SNP Links for Protein (Select 21361699) - SNP

Links from Protein

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Select item 14903126671.

rs1490312667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48629642 (GRCh38)
19:49132899 (GRCh37)
Canonical SPDI:: NC_000019.10:48629641:C:T
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000019.10:g.48629642C>T, NC_000019.9:g.49132899C>T, NG_029867.1:g.15352C>T, NM_020126.5:c.1834C>T, NM_020126.4:c.1834C>T, NM_001204159.3:c.1834C>T, NM_001204159.2:c.1834C>T, NM_001204160.3:c.1726C>T, NM_001204160.2:c.1726C>T, NM_001204158.3:c.1657C>T, NM_001204158.2:c.1657C>T, NM_001243876.2:c.1216C>T, NM_001243876.1:c.1216C>T, XM_017027010.3:c.*870C>T, XM_017027010.2:c.*870C>T, XM_017027010.1:c.*870C>T, XM_017027008.2:c.2020C>T, XM_017027008.1:c.2020C>T, XM_011527133.2:c.1834C>T, XM_011527133.1:c.1834C>T, XM_011527134.2:c.1726C>T, XM_011527134.1:c.1726C>T, XM_006723292.2:c.1726C>T, XM_006723292.1:c.1726C>T, XM_047439107.1:c.*870C>T, XM_047439108.1:c.*870C>T, XM_047439106.1:c.1726C>T, NP_064511.2:p.Pro612Ser, NP_001191088.1:p.Pro612Ser, NP_001191089.1:p.Pro576Ser, NP_001191087.1:p.Pro553Ser, NP_001230805.1:p.Pro406Ser, XP_016882497.1:p.Pro674Ser, XP_011525435.1:p.Pro612Ser, XP_011525436.1:p.Pro576Ser, XP_006723355.1:p.Pro576Ser, XP_047295062.1:p.Pro576Ser

Select item 14891642852.

rs1489164285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48629401 (GRCh38)
19:49132658 (GRCh37)
Canonical SPDI:: NC_000019.10:48629400:G:A
Gene:: SPHK2 (Varview)
Functional Consequence:: stop_gained,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.48629401G>A, NC_000019.9:g.49132658G>A, NG_029867.1:g.15111G>A, NM_020126.5:c.1593G>A, NM_020126.4:c.1593G>A, NM_001204159.3:c.1593G>A, NM_001204159.2:c.1593G>A, NM_001204160.3:c.1485G>A, NM_001204160.2:c.1485G>A, NM_001204158.3:c.1416G>A, NM_001204158.2:c.1416G>A, NM_001243876.2:c.975G>A, NM_001243876.1:c.975G>A, XM_017027010.3:c.*629G>A, XM_017027010.2:c.*629G>A, XM_017027010.1:c.*629G>A, XM_017027008.2:c.1779G>A, XM_017027008.1:c.1779G>A, XM_011527133.2:c.1593G>A, XM_011527133.1:c.1593G>A, XM_011527134.2:c.1485G>A, XM_011527134.1:c.1485G>A, XM_006723292.2:c.1485G>A, XM_006723292.1:c.1485G>A, XM_047439107.1:c.*629G>A, XM_047439108.1:c.*629G>A, XM_047439106.1:c.1485G>A, NP_064511.2:p.Trp531Ter, NP_001191088.1:p.Trp531Ter, NP_001191089.1:p.Trp495Ter, NP_001191087.1:p.Trp472Ter, NP_001230805.1:p.Trp325Ter, XP_016882497.1:p.Trp593Ter, XP_011525435.1:p.Trp531Ter, XP_011525436.1:p.Trp495Ter, XP_006723355.1:p.Trp495Ter, XP_047295062.1:p.Trp495Ter

Select item 14856914643.

rs1485691464 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48626333 (GRCh38)
19:49129590 (GRCh37)
Canonical SPDI:: NC_000019.10:48626332:T:C
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48626333T>C, NC_000019.9:g.49129590T>C, NG_029867.1:g.12043T>C, NM_020126.5:c.482T>C, NM_020126.4:c.482T>C, NM_001204159.3:c.482T>C, NM_001204159.2:c.482T>C, NM_001204160.3:c.374T>C, NM_001204160.2:c.374T>C, NM_001204158.3:c.305T>C, NM_001204158.2:c.305T>C, XM_017027010.3:c.482T>C, XM_017027010.2:c.482T>C, XM_017027010.1:c.482T>C, XM_017027008.2:c.668T>C, XM_017027008.1:c.668T>C, XM_011527133.2:c.482T>C, XM_011527133.1:c.482T>C, XM_011527134.2:c.374T>C, XM_011527134.1:c.374T>C, XM_006723292.2:c.374T>C, XM_006723292.1:c.374T>C, XM_047439107.1:c.482T>C, XM_047439108.1:c.482T>C, XM_047439106.1:c.374T>C, NP_064511.2:p.Leu161Pro, NP_001191088.1:p.Leu161Pro, NP_001191089.1:p.Leu125Pro, NP_001191087.1:p.Leu102Pro, XP_016882499.1:p.Leu161Pro, XP_016882497.1:p.Leu223Pro, XP_011525435.1:p.Leu161Pro, XP_011525436.1:p.Leu125Pro, XP_006723355.1:p.Leu125Pro, XP_047295063.1:p.Leu161Pro, XP_047295064.1:p.Leu161Pro, XP_047295062.1:p.Leu125Pro

Select item 14851964784.

rs1485196478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48629599 (GRCh38)
19:49132856 (GRCh37)
Canonical SPDI:: NC_000019.10:48629598:T:C
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48629599T>C, NC_000019.9:g.49132856T>C, NG_029867.1:g.15309T>C, NM_020126.5:c.1791T>C, NM_020126.4:c.1791T>C, NM_001204159.3:c.1791T>C, NM_001204159.2:c.1791T>C, NM_001204160.3:c.1683T>C, NM_001204160.2:c.1683T>C, NM_001204158.3:c.1614T>C, NM_001204158.2:c.1614T>C, NM_001243876.2:c.1173T>C, NM_001243876.1:c.1173T>C, XM_017027010.3:c.*827T>C, XM_017027010.2:c.*827T>C, XM_017027010.1:c.*827T>C, XM_017027008.2:c.1977T>C, XM_017027008.1:c.1977T>C, XM_011527133.2:c.1791T>C, XM_011527133.1:c.1791T>C, XM_011527134.2:c.1683T>C, XM_011527134.1:c.1683T>C, XM_006723292.2:c.1683T>C, XM_006723292.1:c.1683T>C, XM_047439107.1:c.*827T>C, XM_047439108.1:c.*827T>C, XM_047439106.1:c.1683T>C

Select item 14839001045.

rs1483900104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48629611 (GRCh38)
19:49132868 (GRCh37)
Canonical SPDI:: NC_000019.10:48629610:C:T
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48629611C>T, NC_000019.9:g.49132868C>T, NG_029867.1:g.15321C>T, NM_020126.5:c.1803C>T, NM_020126.4:c.1803C>T, NM_001204159.3:c.1803C>T, NM_001204159.2:c.1803C>T, NM_001204160.3:c.1695C>T, NM_001204160.2:c.1695C>T, NM_001204158.3:c.1626C>T, NM_001204158.2:c.1626C>T, NM_001243876.2:c.1185C>T, NM_001243876.1:c.1185C>T, XM_017027010.3:c.*839C>T, XM_017027010.2:c.*839C>T, XM_017027010.1:c.*839C>T, XM_017027008.2:c.1989C>T, XM_017027008.1:c.1989C>T, XM_011527133.2:c.1803C>T, XM_011527133.1:c.1803C>T, XM_011527134.2:c.1695C>T, XM_011527134.1:c.1695C>T, XM_006723292.2:c.1695C>T, XM_006723292.1:c.1695C>T, XM_047439107.1:c.*839C>T, XM_047439108.1:c.*839C>T, XM_047439106.1:c.1695C>T

Select item 14837169696.

rs1483716969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:48629527 (GRCh38)
19:49132784 (GRCh37)
Canonical SPDI:: NC_000019.10:48629526:C:A,NC_000019.10:48629526:C:G
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.48629527C>A, NC_000019.10:g.48629527C>G, NC_000019.9:g.49132784C>A, NC_000019.9:g.49132784C>G, NG_029867.1:g.15237C>A, NG_029867.1:g.15237C>G, NM_020126.5:c.1719C>A, NM_020126.5:c.1719C>G, NM_020126.4:c.1719C>A, NM_020126.4:c.1719C>G, NM_001204159.3:c.1719C>A, NM_001204159.3:c.1719C>G, NM_001204159.2:c.1719C>A, NM_001204159.2:c.1719C>G, NM_001204160.3:c.1611C>A, NM_001204160.3:c.1611C>G, NM_001204160.2:c.1611C>A, NM_001204160.2:c.1611C>G, NM_001204158.3:c.1542C>A, NM_001204158.3:c.1542C>G, NM_001204158.2:c.1542C>A, NM_001204158.2:c.1542C>G, NM_001243876.2:c.1101C>A, NM_001243876.2:c.1101C>G, NM_001243876.1:c.1101C>A, NM_001243876.1:c.1101C>G, XM_017027010.3:c.*755C>A, XM_017027010.3:c.*755C>G, XM_017027010.2:c.*755C>A, XM_017027010.2:c.*755C>G, XM_017027010.1:c.*755C>A, XM_017027010.1:c.*755C>G, XM_017027008.2:c.1905C>A, XM_017027008.2:c.1905C>G, XM_017027008.1:c.1905C>A, XM_017027008.1:c.1905C>G, XM_011527133.2:c.1719C>A, XM_011527133.2:c.1719C>G, XM_011527133.1:c.1719C>A, XM_011527133.1:c.1719C>G, XM_011527134.2:c.1611C>A, XM_011527134.2:c.1611C>G, XM_011527134.1:c.1611C>A, XM_011527134.1:c.1611C>G, XM_006723292.2:c.1611C>A, XM_006723292.2:c.1611C>G, XM_006723292.1:c.1611C>A, XM_006723292.1:c.1611C>G, XM_047439107.1:c.*755C>A, XM_047439107.1:c.*755C>G, XM_047439108.1:c.*755C>A, XM_047439108.1:c.*755C>G, XM_047439106.1:c.1611C>A, XM_047439106.1:c.1611C>G, NP_064511.2:p.Ser573Arg, NP_064511.2:p.Ser573Arg, NP_001191088.1:p.Ser573Arg, NP_001191088.1:p.Ser573Arg, NP_001191089.1:p.Ser537Arg, NP_001191089.1:p.Ser537Arg, NP_001191087.1:p.Ser514Arg, NP_001191087.1:p.Ser514Arg, NP_001230805.1:p.Ser367Arg, NP_001230805.1:p.Ser367Arg, XP_016882497.1:p.Ser635Arg, XP_016882497.1:p.Ser635Arg, XP_011525435.1:p.Ser573Arg, XP_011525435.1:p.Ser573Arg, XP_011525436.1:p.Ser537Arg, XP_011525436.1:p.Ser537Arg, XP_006723355.1:p.Ser537Arg, XP_006723355.1:p.Ser537Arg, XP_047295062.1:p.Ser537Arg, XP_047295062.1:p.Ser537Arg

Select item 14804966067.

rs1480496606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48629193 (GRCh38)
19:49132450 (GRCh37)
Canonical SPDI:: NC_000019.10:48629192:A:G
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.48629193A>G, NC_000019.9:g.49132450A>G, NG_029867.1:g.14903A>G, NM_020126.5:c.1385A>G, NM_020126.4:c.1385A>G, NM_001204159.3:c.1385A>G, NM_001204159.2:c.1385A>G, NM_001204160.3:c.1277A>G, NM_001204160.2:c.1277A>G, NM_001204158.3:c.1208A>G, NM_001204158.2:c.1208A>G, NM_001243876.2:c.767A>G, NM_001243876.1:c.767A>G, XM_017027010.3:c.*421A>G, XM_017027010.2:c.*421A>G, XM_017027010.1:c.*421A>G, XM_017027008.2:c.1571A>G, XM_017027008.1:c.1571A>G, XM_011527133.2:c.1385A>G, XM_011527133.1:c.1385A>G, XM_011527134.2:c.1277A>G, XM_011527134.1:c.1277A>G, XM_006723292.2:c.1277A>G, XM_006723292.1:c.1277A>G, XM_047439107.1:c.*421A>G, XM_047439108.1:c.*421A>G, XM_047439106.1:c.1277A>G, NP_064511.2:p.Asp462Gly, NP_001191088.1:p.Asp462Gly, NP_001191089.1:p.Asp426Gly, NP_001191087.1:p.Asp403Gly, NP_001230805.1:p.Asp256Gly, XP_016882497.1:p.Asp524Gly, XP_011525435.1:p.Asp462Gly, XP_011525436.1:p.Asp426Gly, XP_006723355.1:p.Asp426Gly, XP_047295062.1:p.Asp426Gly

Select item 14793172598.

rs1479317259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48629367 (GRCh38)
19:49132624 (GRCh37)
Canonical SPDI:: NC_000019.10:48629366:T:C
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48629367T>C, NC_000019.9:g.49132624T>C, NG_029867.1:g.15077T>C, NM_020126.5:c.1559T>C, NM_020126.4:c.1559T>C, NM_001204159.3:c.1559T>C, NM_001204159.2:c.1559T>C, NM_001204160.3:c.1451T>C, NM_001204160.2:c.1451T>C, NM_001204158.3:c.1382T>C, NM_001204158.2:c.1382T>C, NM_001243876.2:c.941T>C, NM_001243876.1:c.941T>C, XM_017027010.3:c.*595T>C, XM_017027010.2:c.*595T>C, XM_017027010.1:c.*595T>C, XM_017027008.2:c.1745T>C, XM_017027008.1:c.1745T>C, XM_011527133.2:c.1559T>C, XM_011527133.1:c.1559T>C, XM_011527134.2:c.1451T>C, XM_011527134.1:c.1451T>C, XM_006723292.2:c.1451T>C, XM_006723292.1:c.1451T>C, XM_047439107.1:c.*595T>C, XM_047439108.1:c.*595T>C, XM_047439106.1:c.1451T>C, NP_064511.2:p.Leu520Pro, NP_001191088.1:p.Leu520Pro, NP_001191089.1:p.Leu484Pro, NP_001191087.1:p.Leu461Pro, NP_001230805.1:p.Leu314Pro, XP_016882497.1:p.Leu582Pro, XP_011525435.1:p.Leu520Pro, XP_011525436.1:p.Leu484Pro, XP_006723355.1:p.Leu484Pro, XP_047295062.1:p.Leu484Pro

Select item 14790418299.

rs1479041829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:48629030 (GRCh38)
19:49132287 (GRCh37)
Canonical SPDI:: NC_000019.10:48629029:G:A,NC_000019.10:48629029:G:C,NC_000019.10:48629029:G:T
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.48629030G>A, NC_000019.10:g.48629030G>C, NC_000019.10:g.48629030G>T, NC_000019.9:g.49132287G>A, NC_000019.9:g.49132287G>C, NC_000019.9:g.49132287G>T, NG_029867.1:g.14740G>A, NG_029867.1:g.14740G>C, NG_029867.1:g.14740G>T, NM_020126.5:c.1222G>A, NM_020126.5:c.1222G>C, NM_020126.5:c.1222G>T, NM_020126.4:c.1222G>A, NM_020126.4:c.1222G>C, NM_020126.4:c.1222G>T, NM_001204159.3:c.1222G>A, NM_001204159.3:c.1222G>C, NM_001204159.3:c.1222G>T, NM_001204159.2:c.1222G>A, NM_001204159.2:c.1222G>C, NM_001204159.2:c.1222G>T, NM_001204160.3:c.1114G>A, NM_001204160.3:c.1114G>C, NM_001204160.3:c.1114G>T, NM_001204160.2:c.1114G>A, NM_001204160.2:c.1114G>C, NM_001204160.2:c.1114G>T, NM_001204158.3:c.1045G>A, NM_001204158.3:c.1045G>C, NM_001204158.3:c.1045G>T, NM_001204158.2:c.1045G>A, NM_001204158.2:c.1045G>C, NM_001204158.2:c.1045G>T, NM_001243876.2:c.604G>A, NM_001243876.2:c.604G>C, NM_001243876.2:c.604G>T, NM_001243876.1:c.604G>A, NM_001243876.1:c.604G>C, NM_001243876.1:c.604G>T, XM_017027010.3:c.*258G>A, XM_017027010.3:c.*258G>C, XM_017027010.3:c.*258G>T, XM_017027010.2:c.*258G>A, XM_017027010.2:c.*258G>C, XM_017027010.2:c.*258G>T, XM_017027010.1:c.*258G>A, XM_017027010.1:c.*258G>C, XM_017027010.1:c.*258G>T, XM_017027008.2:c.1408G>A, XM_017027008.2:c.1408G>C, XM_017027008.2:c.1408G>T, XM_017027008.1:c.1408G>A, XM_017027008.1:c.1408G>C, XM_017027008.1:c.1408G>T, XM_011527133.2:c.1222G>A, XM_011527133.2:c.1222G>C, XM_011527133.2:c.1222G>T, XM_011527133.1:c.1222G>A, XM_011527133.1:c.1222G>C, XM_011527133.1:c.1222G>T, XM_011527134.2:c.1114G>A, XM_011527134.2:c.1114G>C, XM_011527134.2:c.1114G>T, XM_011527134.1:c.1114G>A, XM_011527134.1:c.1114G>C, XM_011527134.1:c.1114G>T, XM_006723292.2:c.1114G>A, XM_006723292.2:c.1114G>C, XM_006723292.2:c.1114G>T, XM_006723292.1:c.1114G>A, XM_006723292.1:c.1114G>C, XM_006723292.1:c.1114G>T, XM_047439107.1:c.*258G>A, XM_047439107.1:c.*258G>C, XM_047439107.1:c.*258G>T, XM_047439108.1:c.*258G>A, XM_047439108.1:c.*258G>C, XM_047439108.1:c.*258G>T, XM_047439106.1:c.1114G>A, XM_047439106.1:c.1114G>C, XM_047439106.1:c.1114G>T, NP_064511.2:p.Ala408Thr, NP_064511.2:p.Ala408Pro, NP_064511.2:p.Ala408Ser, NP_001191088.1:p.Ala408Thr, NP_001191088.1:p.Ala408Pro, NP_001191088.1:p.Ala408Ser, NP_001191089.1:p.Ala372Thr, NP_001191089.1:p.Ala372Pro, NP_001191089.1:p.Ala372Ser, NP_001191087.1:p.Ala349Thr, NP_001191087.1:p.Ala349Pro, NP_001191087.1:p.Ala349Ser, NP_001230805.1:p.Ala202Thr, NP_001230805.1:p.Ala202Pro, NP_001230805.1:p.Ala202Ser, XP_016882497.1:p.Ala470Thr, XP_016882497.1:p.Ala470Pro, XP_016882497.1:p.Ala470Ser, XP_011525435.1:p.Ala408Thr, XP_011525435.1:p.Ala408Pro, XP_011525435.1:p.Ala408Ser, XP_011525436.1:p.Ala372Thr, XP_011525436.1:p.Ala372Pro, XP_011525436.1:p.Ala372Ser, XP_006723355.1:p.Ala372Thr, XP_006723355.1:p.Ala372Pro, XP_006723355.1:p.Ala372Ser, XP_047295062.1:p.Ala372Thr, XP_047295062.1:p.Ala372Pro, XP_047295062.1:p.Ala372Ser

Select item 147893325410.

rs1478933254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:48629312 (GRCh38)
19:49132569 (GRCh37)
Canonical SPDI:: NC_000019.10:48629311:C:G
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48629312C>G, NC_000019.9:g.49132569C>G, NG_029867.1:g.15022C>G, NM_020126.5:c.1504C>G, NM_020126.4:c.1504C>G, NM_001204159.3:c.1504C>G, NM_001204159.2:c.1504C>G, NM_001204160.3:c.1396C>G, NM_001204160.2:c.1396C>G, NM_001204158.3:c.1327C>G, NM_001204158.2:c.1327C>G, NM_001243876.2:c.886C>G, NM_001243876.1:c.886C>G, XM_017027010.3:c.*540C>G, XM_017027010.2:c.*540C>G, XM_017027010.1:c.*540C>G, XM_017027008.2:c.1690C>G, XM_017027008.1:c.1690C>G, XM_011527133.2:c.1504C>G, XM_011527133.1:c.1504C>G, XM_011527134.2:c.1396C>G, XM_011527134.1:c.1396C>G, XM_006723292.2:c.1396C>G, XM_006723292.1:c.1396C>G, XM_047439107.1:c.*540C>G, XM_047439108.1:c.*540C>G, XM_047439106.1:c.1396C>G, NP_064511.2:p.Pro502Ala, NP_001191088.1:p.Pro502Ala, NP_001191089.1:p.Pro466Ala, NP_001191087.1:p.Pro443Ala, NP_001230805.1:p.Pro296Ala, XP_016882497.1:p.Pro564Ala, XP_011525435.1:p.Pro502Ala, XP_011525436.1:p.Pro466Ala, XP_006723355.1:p.Pro466Ala, XP_047295062.1:p.Pro466Ala

Select item 147846913711.

rs1478469137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48626266 (GRCh38)
19:49129523 (GRCh37)
Canonical SPDI:: NC_000019.10:48626265:G:T
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48626266G>T, NC_000019.9:g.49129523G>T, NG_029867.1:g.11976G>T, NM_020126.5:c.415G>T, NM_020126.4:c.415G>T, NM_001204159.3:c.415G>T, NM_001204159.2:c.415G>T, NM_001204160.3:c.307G>T, NM_001204160.2:c.307G>T, NM_001204158.3:c.238G>T, NM_001204158.2:c.238G>T, XM_017027010.3:c.415G>T, XM_017027010.2:c.415G>T, XM_017027010.1:c.415G>T, XM_017027008.2:c.601G>T, XM_017027008.1:c.601G>T, XM_011527133.2:c.415G>T, XM_011527133.1:c.415G>T, XM_011527134.2:c.307G>T, XM_011527134.1:c.307G>T, XM_006723292.2:c.307G>T, XM_006723292.1:c.307G>T, XM_047439107.1:c.415G>T, XM_047439108.1:c.415G>T, XM_047439106.1:c.307G>T, NP_064511.2:p.Gly139Trp, NP_001191088.1:p.Gly139Trp, NP_001191089.1:p.Gly103Trp, NP_001191087.1:p.Gly80Trp, XP_016882499.1:p.Gly139Trp, XP_016882497.1:p.Gly201Trp, XP_011525435.1:p.Gly139Trp, XP_011525436.1:p.Gly103Trp, XP_006723355.1:p.Gly103Trp, XP_047295063.1:p.Gly139Trp, XP_047295064.1:p.Gly139Trp, XP_047295062.1:p.Gly103Trp

Select item 147337892512.

rs1473378925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:48629651 (GRCh38)
19:49132908 (GRCh37)
Canonical SPDI:: NC_000019.10:48629650:C:A,NC_000019.10:48629650:C:T
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.48629651C>A, NC_000019.10:g.48629651C>T, NC_000019.9:g.49132908C>A, NC_000019.9:g.49132908C>T, NG_029867.1:g.15361C>A, NG_029867.1:g.15361C>T, NM_020126.5:c.1843C>A, NM_020126.5:c.1843C>T, NM_020126.4:c.1843C>A, NM_020126.4:c.1843C>T, NM_001204159.3:c.1843C>A, NM_001204159.3:c.1843C>T, NM_001204159.2:c.1843C>A, NM_001204159.2:c.1843C>T, NM_001204160.3:c.1735C>A, NM_001204160.3:c.1735C>T, NM_001204160.2:c.1735C>A, NM_001204160.2:c.1735C>T, NM_001204158.3:c.1666C>A, NM_001204158.3:c.1666C>T, NM_001204158.2:c.1666C>A, NM_001204158.2:c.1666C>T, NM_001243876.2:c.1225C>A, NM_001243876.2:c.1225C>T, NM_001243876.1:c.1225C>A, NM_001243876.1:c.1225C>T, XM_017027010.3:c.*879C>A, XM_017027010.3:c.*879C>T, XM_017027010.2:c.*879C>A, XM_017027010.2:c.*879C>T, XM_017027010.1:c.*879C>A, XM_017027010.1:c.*879C>T, XM_017027008.2:c.2029C>A, XM_017027008.2:c.2029C>T, XM_017027008.1:c.2029C>A, XM_017027008.1:c.2029C>T, XM_011527133.2:c.1843C>A, XM_011527133.2:c.1843C>T, XM_011527133.1:c.1843C>A, XM_011527133.1:c.1843C>T, XM_011527134.2:c.1735C>A, XM_011527134.2:c.1735C>T, XM_011527134.1:c.1735C>A, XM_011527134.1:c.1735C>T, XM_006723292.2:c.1735C>A, XM_006723292.2:c.1735C>T, XM_006723292.1:c.1735C>A, XM_006723292.1:c.1735C>T, XM_047439107.1:c.*879C>A, XM_047439107.1:c.*879C>T, XM_047439108.1:c.*879C>A, XM_047439108.1:c.*879C>T, XM_047439106.1:c.1735C>A, XM_047439106.1:c.1735C>T, NP_064511.2:p.Pro615Thr, NP_064511.2:p.Pro615Ser, NP_001191088.1:p.Pro615Thr, NP_001191088.1:p.Pro615Ser, NP_001191089.1:p.Pro579Thr, NP_001191089.1:p.Pro579Ser, NP_001191087.1:p.Pro556Thr, NP_001191087.1:p.Pro556Ser, NP_001230805.1:p.Pro409Thr, NP_001230805.1:p.Pro409Ser, XP_016882497.1:p.Pro677Thr, XP_016882497.1:p.Pro677Ser, XP_011525435.1:p.Pro615Thr, XP_011525435.1:p.Pro615Ser, XP_011525436.1:p.Pro579Thr, XP_011525436.1:p.Pro579Ser, XP_006723355.1:p.Pro579Thr, XP_006723355.1:p.Pro579Ser, XP_047295062.1:p.Pro579Thr, XP_047295062.1:p.Pro579Ser

Select item 147296880713.

rs1472968807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48629173 (GRCh38)
19:49132430 (GRCh37)
Canonical SPDI:: NC_000019.10:48629172:G:T
Gene:: SPHK2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.48629173G>T, NC_000019.9:g.49132430G>T, NG_029867.1:g.14883G>T, NM_020126.5:c.1365G>T, NM_020126.4:c.1365G>T, NM_001204159.3:c.1365G>T, NM_001204159.2:c.1365G>T, NM_001204160.3:c.1257G>T, NM_001204160.2:c.1257G>T, NM_001204158.3:c.1188G>T, NM_001204158.2:c.1188G>T, NM_001243876.2:c.747G>T, NM_001243876.1:c.747G>T, XM_017027010.3:c.*401G>T, XM_017027010.2:c.*401G>T, XM_017027010.1:c.*401G>T, XM_017027008.2:c.1551G>T, XM_017027008.1:c.1551G>T, XM_011527133.2:c.1365G>T, XM_011527133.1:c.1365G>T, XM_011527134.2:c.1257G>T, XM_011527134.1:c.1257G>T, XM_006723292.2:c.1257G>T, XM_006723292.1:c.1257G>T, XM_047439107.1:c.*401G>T, XM_047439108.1:c.*401G>T, XM_047439106.1:c.1257G>T

Select item 147228375814.

rs1472283758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48628047 (GRCh38)
19:49131304 (GRCh37)
Canonical SPDI:: NC_000019.10:48628046:C:T
Gene:: SPHK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48628047C>T, NC_000019.9:g.49131304C>T, NG_029867.1:g.13757C>T, NM_020126.5:c.734C>T, NM_020126.4:c.734C>T, NM_001204159.3:c.734C>T, NM_001204159.2:c.734C>T, NM_001204160.3:c.626C>T, NM_001204160.2:c.626C>T, NM_001204158.3:c.557C>T, NM_001204158.2:c.557C>T, NM_001243876.2:c.116C>T, NM_001243876.1:c.116C>T, XM_017027010.3:c.734C>T, XM_017027010.2:c.734C>T, XM_017027010.1:c.734C>T, XM_017027008.2:c.920C>T, XM_017027008.1:c.920C>T, XM_011527133.2:c.734C>T, XM_011527133.1:c.734C>T, XM_011527134.2:c.626C>T, XM_011527134.1:c.626C>T, XM_006723292.2:c.626C>T, XM_006723292.1:c.626C>T, XM_047439107.1:c.734C>T, XM_047439108.1:c.734C>T, XM_047439106.1:c.626C>T, NP_064511.2:p.Ser245Leu, NP_001191088.1:p.Ser245Leu, NP_001191089.1:p.Ser209Leu, NP_001191087.1:p.Ser186Leu, NP_001230805.1:p.Ser39Leu, XP_016882499.1:p.Ser245Leu, XP_016882497.1:p.Ser307Leu, XP_011525435.1:p.Ser245Leu, XP_011525436.1:p.Ser209Leu, XP_006723355.1:p.Ser209Leu, XP_047295063.1:p.Ser245Leu, XP_047295064.1:p.Ser245Leu, XP_047295062.1:p.Ser209Leu

Select item 147093661215.

rs1470936612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:48629731 (GRCh38)
19:49132988 (GRCh37)
Canonical SPDI:: NC_000019.10:48629730:A:G,NC_000019.10:48629730:A:T
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48629731A>G, NC_000019.10:g.48629731A>T, NC_000019.9:g.49132988A>G, NC_000019.9:g.49132988A>T, NG_029867.1:g.15441A>G, NG_029867.1:g.15441A>T, NM_020126.5:c.1923A>G, NM_020126.5:c.1923A>T, NM_020126.4:c.1923A>G, NM_020126.4:c.1923A>T, NM_001204159.3:c.1923A>G, NM_001204159.3:c.1923A>T, NM_001204159.2:c.1923A>G, NM_001204159.2:c.1923A>T, NM_001204160.3:c.1815A>G, NM_001204160.3:c.1815A>T, NM_001204160.2:c.1815A>G, NM_001204160.2:c.1815A>T, NM_001204158.3:c.1746A>G, NM_001204158.3:c.1746A>T, NM_001204158.2:c.1746A>G, NM_001204158.2:c.1746A>T, NM_001243876.2:c.1305A>G, NM_001243876.2:c.1305A>T, NM_001243876.1:c.1305A>G, NM_001243876.1:c.1305A>T, XM_017027010.3:c.*959A>G, XM_017027010.3:c.*959A>T, XM_017027010.2:c.*959A>G, XM_017027010.2:c.*959A>T, XM_017027010.1:c.*959A>G, XM_017027010.1:c.*959A>T, XM_017027008.2:c.2109A>G, XM_017027008.2:c.2109A>T, XM_017027008.1:c.2109A>G, XM_017027008.1:c.2109A>T, XM_011527133.2:c.1923A>G, XM_011527133.2:c.1923A>T, XM_011527133.1:c.1923A>G, XM_011527133.1:c.1923A>T, XM_011527134.2:c.1815A>G, XM_011527134.2:c.1815A>T, XM_011527134.1:c.1815A>G, XM_011527134.1:c.1815A>T, XM_006723292.2:c.1815A>G, XM_006723292.2:c.1815A>T, XM_006723292.1:c.1815A>G, XM_006723292.1:c.1815A>T, XM_047439107.1:c.*959A>G, XM_047439107.1:c.*959A>T, XM_047439108.1:c.*959A>G, XM_047439108.1:c.*959A>T, XM_047439106.1:c.1815A>G, XM_047439106.1:c.1815A>T

Select item 147001710516.

rs1470017105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48629562 (GRCh38)
19:49132819 (GRCh37)
Canonical SPDI:: NC_000019.10:48629561:T:C
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48629562T>C, NC_000019.9:g.49132819T>C, NG_029867.1:g.15272T>C, NM_020126.5:c.1754T>C, NM_020126.4:c.1754T>C, NM_001204159.3:c.1754T>C, NM_001204159.2:c.1754T>C, NM_001204160.3:c.1646T>C, NM_001204160.2:c.1646T>C, NM_001204158.3:c.1577T>C, NM_001204158.2:c.1577T>C, NM_001243876.2:c.1136T>C, NM_001243876.1:c.1136T>C, XM_017027010.3:c.*790T>C, XM_017027010.2:c.*790T>C, XM_017027010.1:c.*790T>C, XM_017027008.2:c.1940T>C, XM_017027008.1:c.1940T>C, XM_011527133.2:c.1754T>C, XM_011527133.1:c.1754T>C, XM_011527134.2:c.1646T>C, XM_011527134.1:c.1646T>C, XM_006723292.2:c.1646T>C, XM_006723292.1:c.1646T>C, XM_047439107.1:c.*790T>C, XM_047439108.1:c.*790T>C, XM_047439106.1:c.1646T>C, NP_064511.2:p.Leu585Ser, NP_001191088.1:p.Leu585Ser, NP_001191089.1:p.Leu549Ser, NP_001191087.1:p.Leu526Ser, NP_001230805.1:p.Leu379Ser, XP_016882497.1:p.Leu647Ser, XP_011525435.1:p.Leu585Ser, XP_011525436.1:p.Leu549Ser, XP_006723355.1:p.Leu549Ser, XP_047295062.1:p.Leu549Ser

Select item 146959253017.

rs1469592530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAGAACCGTG [Show Flanks]
Chromosome:: 19:48626280 (GRCh38)
19:49129538 (GRCh37)
Canonical SPDI:: NC_000019.10:48626280:GAAGAGAACCGTG:GAAGAGAACCGTGAAGAGAACCGTG
Gene:: SPHK2 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GAAGAGAACCGTGAAGAGAACCGTG=0./0 (ALFA)
GAAGAGAACCGT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48626282_48626293dup, NC_000019.9:g.49129539_49129550dup, NG_029867.1:g.11992_12003dup, NM_020126.5:c.431_442dup, NM_020126.4:c.431_442dup, NM_001204159.3:c.431_442dup, NM_001204159.2:c.431_442dup, NM_001204160.3:c.323_334dup, NM_001204160.2:c.323_334dup, NM_001204158.3:c.254_265dup, NM_001204158.2:c.254_265dup, XM_017027010.3:c.431_442dup, XM_017027010.2:c.431_442dup, XM_017027010.1:c.431_442dup, XM_017027008.2:c.617_628dup, XM_017027008.1:c.617_628dup, XM_011527133.2:c.431_442dup, XM_011527133.1:c.431_442dup, XM_011527134.2:c.323_334dup, XM_011527134.1:c.323_334dup, XM_006723292.2:c.323_334dup, XM_006723292.1:c.323_334dup, XM_047439107.1:c.431_442dup, XM_047439108.1:c.431_442dup, XM_047439106.1:c.323_334dup, NP_064511.2:p.Glu144_Arg147dup, NP_001191088.1:p.Glu144_Arg147dup, NP_001191089.1:p.Glu108_Arg111dup, NP_001191087.1:p.Glu85_Arg88dup, XP_016882499.1:p.Glu144_Arg147dup, XP_016882497.1:p.Glu206_Arg209dup, XP_011525435.1:p.Glu144_Arg147dup, XP_011525436.1:p.Glu108_Arg111dup, XP_006723355.1:p.Glu108_Arg111dup, XP_047295063.1:p.Glu144_Arg147dup, XP_047295064.1:p.Glu144_Arg147dup, XP_047295062.1:p.Glu108_Arg111dup

Select item 146927492118.

rs1469274921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48629452 (GRCh38)
19:49132709 (GRCh37)
Canonical SPDI:: NC_000019.10:48629451:C:T
Gene:: SPHK2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.48629452C>T, NC_000019.9:g.49132709C>T, NG_029867.1:g.15162C>T, NM_020126.5:c.1644C>T, NM_020126.4:c.1644C>T, NM_001204159.3:c.1644C>T, NM_001204159.2:c.1644C>T, NM_001204160.3:c.1536C>T, NM_001204160.2:c.1536C>T, NM_001204158.3:c.1467C>T, NM_001204158.2:c.1467C>T, NM_001243876.2:c.1026C>T, NM_001243876.1:c.1026C>T, XM_017027010.3:c.*680C>T, XM_017027010.2:c.*680C>T, XM_017027010.1:c.*680C>T, XM_017027008.2:c.1830C>T, XM_017027008.1:c.1830C>T, XM_011527133.2:c.1644C>T, XM_011527133.1:c.1644C>T, XM_011527134.2:c.1536C>T, XM_011527134.1:c.1536C>T, XM_006723292.2:c.1536C>T, XM_006723292.1:c.1536C>T, XM_047439107.1:c.*680C>T, XM_047439108.1:c.*680C>T, XM_047439106.1:c.1536C>T

Select item 146831279119.

rs1468312791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48629191 (GRCh38)
19:49132448 (GRCh37)
Canonical SPDI:: NC_000019.10:48629190:G:A
Gene:: SPHK2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48629191G>A, NC_000019.9:g.49132448G>A, NG_029867.1:g.14901G>A, NM_020126.5:c.1383G>A, NM_020126.4:c.1383G>A, NM_001204159.3:c.1383G>A, NM_001204159.2:c.1383G>A, NM_001204160.3:c.1275G>A, NM_001204160.2:c.1275G>A, NM_001204158.3:c.1206G>A, NM_001204158.2:c.1206G>A, NM_001243876.2:c.765G>A, NM_001243876.1:c.765G>A, XM_017027010.3:c.*419G>A, XM_017027010.2:c.*419G>A, XM_017027010.1:c.*419G>A, XM_017027008.2:c.1569G>A, XM_017027008.1:c.1569G>A, XM_011527133.2:c.1383G>A, XM_011527133.1:c.1383G>A, XM_011527134.2:c.1275G>A, XM_011527134.1:c.1275G>A, XM_006723292.2:c.1275G>A, XM_006723292.1:c.1275G>A, XM_047439107.1:c.*419G>A, XM_047439108.1:c.*419G>A, XM_047439106.1:c.1275G>A

Select item 146823492520.

rs1468234925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48629718 (GRCh38)
19:49132975 (GRCh37)
Canonical SPDI:: NC_000019.10:48629717:C:T
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48629718C>T, NC_000019.9:g.49132975C>T, NG_029867.1:g.15428C>T, NM_020126.5:c.1910C>T, NM_020126.4:c.1910C>T, NM_001204159.3:c.1910C>T, NM_001204159.2:c.1910C>T, NM_001204160.3:c.1802C>T, NM_001204160.2:c.1802C>T, NM_001204158.3:c.1733C>T, NM_001204158.2:c.1733C>T, NM_001243876.2:c.1292C>T, NM_001243876.1:c.1292C>T, XM_017027010.3:c.*946C>T, XM_017027010.2:c.*946C>T, XM_017027010.1:c.*946C>T, XM_017027008.2:c.2096C>T, XM_017027008.1:c.2096C>T, XM_011527133.2:c.1910C>T, XM_011527133.1:c.1910C>T, XM_011527134.2:c.1802C>T, XM_011527134.1:c.1802C>T, XM_006723292.2:c.1802C>T, XM_006723292.1:c.1802C>T, XM_047439107.1:c.*946C>T, XM_047439108.1:c.*946C>T, XM_047439106.1:c.1802C>T, NP_064511.2:p.Pro637Leu, NP_001191088.1:p.Pro637Leu, NP_001191089.1:p.Pro601Leu, NP_001191087.1:p.Pro578Leu, NP_001230805.1:p.Pro431Leu, XP_016882497.1:p.Pro699Leu, XP_011525435.1:p.Pro637Leu, XP_011525436.1:p.Pro601Leu, XP_006723355.1:p.Pro601Leu, XP_047295062.1:p.Pro601Leu

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