SNP Links for Protein (Select 1034634847) - SNP

Links from Protein

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Select item 14874488851.

rs1487448885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:114005835 (GRCh38)
3:113724682 (GRCh37)
Canonical SPDI:: NC_000003.12:114005834:G:A
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.114005835G>A, NC_000003.11:g.113724682G>A, NR_148531.3:n.1420C>T, NR_148531.2:n.1507C>T, NR_148531.1:n.1431C>T, XM_011513054.3:c.1286C>T, XM_011513054.2:c.1286C>T, XM_011513054.1:c.1286C>T, NM_001353766.3:c.1502C>T, NM_001353766.2:c.1502C>T, NM_001353766.1:c.1502C>T, XM_011513052.3:c.1355C>T, XM_011513052.2:c.1355C>T, XM_011513052.1:c.1355C>T, XM_005247681.3:c.578C>T, XM_005247681.2:c.578C>T, XM_005247681.1:c.578C>T, NM_020817.2:c.1541C>T, NM_020817.1:c.1541C>T, NM_001353767.2:c.1475C>T, NM_001353767.1:c.1169C>T, XM_017006959.2:c.341C>T, XM_017006959.1:c.341C>T, XM_047448642.1:c.1286C>T, XM_047448641.1:c.1415C>T, XM_017006957.1:c.1286C>T, XM_047448643.1:c.1286C>T, XP_011511356.1:p.Ala429Val, NP_001340695.1:p.Ala501Val, XP_011511354.1:p.Ala452Val, XP_005247738.1:p.Ala193Val, NP_065868.1:p.Ala514Val, NP_001340696.2:p.Ala492Val, XP_016862448.1:p.Ala114Val, XP_047304598.1:p.Ala429Val, XP_047304597.1:p.Ala472Val, XP_016862446.1:p.Ala429Val, XP_047304599.1:p.Ala429Val

Select item 14857666902.

rs1485766690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:113980701 (GRCh38)
3:113699548 (GRCh37)
Canonical SPDI:: NC_000003.12:113980700:T:A
Gene:: CCDC191 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.113980701T>A, NC_000003.11:g.113699548T>A, NR_148531.3:n.2385A>T, NR_148531.2:n.2472A>T, NR_148531.1:n.2396A>T, XM_011513054.3:c.2001A>T, XM_011513054.2:c.2001A>T, XM_011513054.1:c.2001A>T, NM_001353766.3:c.2217A>T, NM_001353766.2:c.2217A>T, NM_001353766.1:c.2217A>T, XM_011513052.3:c.2070A>T, XM_011513052.2:c.2070A>T, XM_011513052.1:c.2070A>T, XM_005247681.3:c.1293A>T, XM_005247681.2:c.1293A>T, XM_005247681.1:c.1293A>T, NM_020817.2:c.2256A>T, NM_020817.1:c.2256A>T, NM_001353767.2:c.2190A>T, NM_001353767.1:c.1884A>T, XM_017006959.2:c.1056A>T, XM_017006959.1:c.1056A>T, XM_047448642.1:c.2001A>T, XM_047448641.1:c.2130A>T, XM_017006957.1:c.2001A>T, XM_047448643.1:c.2001A>T, XP_011511356.1:p.Lys667Asn, NP_001340695.1:p.Lys739Asn, XP_011511354.1:p.Lys690Asn, XP_005247738.1:p.Lys431Asn, NP_065868.1:p.Lys752Asn, NP_001340696.2:p.Lys730Asn, XP_016862448.1:p.Lys352Asn, XP_047304598.1:p.Lys667Asn, XP_047304597.1:p.Lys710Asn, XP_016862446.1:p.Lys667Asn, XP_047304599.1:p.Lys667Asn

Select item 14827273223.

rs1482727322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113980740 (GRCh38)
3:113699587 (GRCh37)
Canonical SPDI:: NC_000003.12:113980739:T:C
Gene:: CCDC191 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113980740T>C, NC_000003.11:g.113699587T>C, NR_148531.3:n.2346A>G, NR_148531.2:n.2433A>G, NR_148531.1:n.2357A>G, XM_011513054.3:c.1962A>G, XM_011513054.2:c.1962A>G, XM_011513054.1:c.1962A>G, NM_001353766.3:c.2178A>G, NM_001353766.2:c.2178A>G, NM_001353766.1:c.2178A>G, XM_011513052.3:c.2031A>G, XM_011513052.2:c.2031A>G, XM_011513052.1:c.2031A>G, XM_005247681.3:c.1254A>G, XM_005247681.2:c.1254A>G, XM_005247681.1:c.1254A>G, NM_020817.2:c.2217A>G, NM_020817.1:c.2217A>G, NM_001353767.2:c.2151A>G, NM_001353767.1:c.1845A>G, XM_017006959.2:c.1017A>G, XM_017006959.1:c.1017A>G, XM_047448642.1:c.1962A>G, XM_047448641.1:c.2091A>G, XM_017006957.1:c.1962A>G, XM_047448643.1:c.1962A>G, XP_011511356.1:p.Ile654Met, NP_001340695.1:p.Ile726Met, XP_011511354.1:p.Ile677Met, XP_005247738.1:p.Ile418Met, NP_065868.1:p.Ile739Met, NP_001340696.2:p.Ile717Met, XP_016862448.1:p.Ile339Met, XP_047304598.1:p.Ile654Met, XP_047304597.1:p.Ile697Met, XP_016862446.1:p.Ile654Met, XP_047304599.1:p.Ile654Met

Select item 14827236294.

rs1482723629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:114004676 (GRCh38)
3:113723523 (GRCh37)
Canonical SPDI:: NC_000003.12:114004675:T:G
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.114004676T>G, NC_000003.11:g.113723523T>G, NR_148531.3:n.1818A>C, NR_148531.2:n.1905A>C, NR_148531.1:n.1829A>C, XM_011513054.3:c.1684A>C, XM_011513054.2:c.1684A>C, XM_011513054.1:c.1684A>C, NM_001353766.3:c.1900A>C, NM_001353766.2:c.1900A>C, NM_001353766.1:c.1900A>C, XM_011513052.3:c.1753A>C, XM_011513052.2:c.1753A>C, XM_011513052.1:c.1753A>C, XM_005247681.3:c.976A>C, XM_005247681.2:c.976A>C, XM_005247681.1:c.976A>C, NM_020817.2:c.1939A>C, NM_020817.1:c.1939A>C, NM_001353767.2:c.1873A>C, NM_001353767.1:c.1567A>C, XM_017006959.2:c.739A>C, XM_017006959.1:c.739A>C, XM_047448642.1:c.1684A>C, XM_047448641.1:c.1813A>C, XM_017006957.1:c.1684A>C, XM_047448643.1:c.1684A>C, XP_011511356.1:p.Lys562Gln, NP_001340695.1:p.Lys634Gln, XP_011511354.1:p.Lys585Gln, XP_005247738.1:p.Lys326Gln, NP_065868.1:p.Lys647Gln, NP_001340696.2:p.Lys625Gln, XP_016862448.1:p.Lys247Gln, XP_047304598.1:p.Lys562Gln, XP_047304597.1:p.Lys605Gln, XP_016862446.1:p.Lys562Gln, XP_047304599.1:p.Lys562Gln

Select item 14826139045.

rs1482613904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:114005921 (GRCh38)
3:113724768 (GRCh37)
Canonical SPDI:: NC_000003.12:114005920:T:C
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.114005921T>C, NC_000003.11:g.113724768T>C, NR_148531.3:n.1334A>G, NR_148531.2:n.1421A>G, NR_148531.1:n.1345A>G, XM_011513054.3:c.1200A>G, XM_011513054.2:c.1200A>G, XM_011513054.1:c.1200A>G, NM_001353766.3:c.1416A>G, NM_001353766.2:c.1416A>G, NM_001353766.1:c.1416A>G, XM_011513052.3:c.1269A>G, XM_011513052.2:c.1269A>G, XM_011513052.1:c.1269A>G, XM_005247681.3:c.492A>G, XM_005247681.2:c.492A>G, XM_005247681.1:c.492A>G, NM_020817.2:c.1455A>G, NM_020817.1:c.1455A>G, NM_001353767.2:c.1389A>G, NM_001353767.1:c.1083A>G, XM_017006959.2:c.255A>G, XM_017006959.1:c.255A>G, XM_047448642.1:c.1200A>G, XM_047448641.1:c.1329A>G, XM_017006957.1:c.1200A>G, XM_047448643.1:c.1200A>G

Select item 14753171736.

rs1475317173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:114005941 (GRCh38)
3:113724788 (GRCh37)
Canonical SPDI:: NC_000003.12:114005940:A:G
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.114005941A>G, NC_000003.11:g.113724788A>G, NR_148531.3:n.1314T>C, NR_148531.2:n.1401T>C, NR_148531.1:n.1325T>C, XM_011513054.3:c.1180T>C, XM_011513054.2:c.1180T>C, XM_011513054.1:c.1180T>C, NM_001353766.3:c.1396T>C, NM_001353766.2:c.1396T>C, NM_001353766.1:c.1396T>C, XM_011513052.3:c.1249T>C, XM_011513052.2:c.1249T>C, XM_011513052.1:c.1249T>C, XM_005247681.3:c.472T>C, XM_005247681.2:c.472T>C, XM_005247681.1:c.472T>C, NM_020817.2:c.1435T>C, NM_020817.1:c.1435T>C, NM_001353767.2:c.1369T>C, NM_001353767.1:c.1063T>C, XM_017006959.2:c.235T>C, XM_017006959.1:c.235T>C, XM_047448642.1:c.1180T>C, XM_047448641.1:c.1309T>C, XM_017006957.1:c.1180T>C, XM_047448643.1:c.1180T>C, XP_011511356.1:p.Trp394Arg, NP_001340695.1:p.Trp466Arg, XP_011511354.1:p.Trp417Arg, XP_005247738.1:p.Trp158Arg, NP_065868.1:p.Trp479Arg, NP_001340696.2:p.Trp457Arg, XP_016862448.1:p.Trp79Arg, XP_047304598.1:p.Trp394Arg, XP_047304597.1:p.Trp437Arg, XP_016862446.1:p.Trp394Arg, XP_047304599.1:p.Trp394Arg

Select item 14750013507.

rs1475001350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:113980694 (GRCh38)
3:113699541 (GRCh37)
Canonical SPDI:: NC_000003.12:113980693:C:G,NC_000003.12:113980693:C:T
Gene:: CCDC191 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113980694C>G, NC_000003.12:g.113980694C>T, NC_000003.11:g.113699541C>G, NC_000003.11:g.113699541C>T, NR_148531.3:n.2392G>C, NR_148531.3:n.2392G>A, NR_148531.2:n.2479G>C, NR_148531.2:n.2479G>A, NR_148531.1:n.2403G>C, NR_148531.1:n.2403G>A, XM_011513054.3:c.2008G>C, XM_011513054.3:c.2008G>A, XM_011513054.2:c.2008G>C, XM_011513054.2:c.2008G>A, XM_011513054.1:c.2008G>C, XM_011513054.1:c.2008G>A, NM_001353766.3:c.2224G>C, NM_001353766.3:c.2224G>A, NM_001353766.2:c.2224G>C, NM_001353766.2:c.2224G>A, NM_001353766.1:c.2224G>C, NM_001353766.1:c.2224G>A, XM_011513052.3:c.2077G>C, XM_011513052.3:c.2077G>A, XM_011513052.2:c.2077G>C, XM_011513052.2:c.2077G>A, XM_011513052.1:c.2077G>C, XM_011513052.1:c.2077G>A, XM_005247681.3:c.1300G>C, XM_005247681.3:c.1300G>A, XM_005247681.2:c.1300G>C, XM_005247681.2:c.1300G>A, XM_005247681.1:c.1300G>C, XM_005247681.1:c.1300G>A, NM_020817.2:c.2263G>C, NM_020817.2:c.2263G>A, NM_020817.1:c.2263G>C, NM_020817.1:c.2263G>A, NM_001353767.2:c.2197G>C, NM_001353767.2:c.2197G>A, NM_001353767.1:c.1891G>C, NM_001353767.1:c.1891G>A, XM_017006959.2:c.1063G>C, XM_017006959.2:c.1063G>A, XM_017006959.1:c.1063G>C, XM_017006959.1:c.1063G>A, XM_047448642.1:c.2008G>C, XM_047448642.1:c.2008G>A, XM_047448641.1:c.2137G>C, XM_047448641.1:c.2137G>A, XM_017006957.1:c.2008G>C, XM_017006957.1:c.2008G>A, XM_047448643.1:c.2008G>C, XM_047448643.1:c.2008G>A, XP_011511356.1:p.Glu670Gln, XP_011511356.1:p.Glu670Lys, NP_001340695.1:p.Glu742Gln, NP_001340695.1:p.Glu742Lys, XP_011511354.1:p.Glu693Gln, XP_011511354.1:p.Glu693Lys, XP_005247738.1:p.Glu434Gln, XP_005247738.1:p.Glu434Lys, NP_065868.1:p.Glu755Gln, NP_065868.1:p.Glu755Lys, NP_001340696.2:p.Glu733Gln, NP_001340696.2:p.Glu733Lys, XP_016862448.1:p.Glu355Gln, XP_016862448.1:p.Glu355Lys, XP_047304598.1:p.Glu670Gln, XP_047304598.1:p.Glu670Lys, XP_047304597.1:p.Glu713Gln, XP_047304597.1:p.Glu713Lys, XP_016862446.1:p.Glu670Gln, XP_016862446.1:p.Glu670Lys, XP_047304599.1:p.Glu670Gln, XP_047304599.1:p.Glu670Lys

Select item 14722106038.

rs1472210603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113978925 (GRCh38)
3:113697772 (GRCh37)
Canonical SPDI:: NC_000003.12:113978924:T:C
Gene:: CCDC191 (Varview), ZDHHC23 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000003.12:g.113978925T>C, NC_000003.11:g.113697772T>C, XM_006713562.4:c.*547T>C, NR_148531.3:n.2522A>G, NR_148531.2:n.2609A>G, NR_148531.1:n.2533A>G, XM_011513054.3:c.2138A>G, XM_011513054.2:c.2138A>G, XM_011513054.1:c.2138A>G, NM_001353766.3:c.2354A>G, NM_001353766.2:c.2354A>G, NM_001353766.1:c.2354A>G, XM_011513052.3:c.2207A>G, XM_011513052.2:c.2207A>G, XM_011513052.1:c.2207A>G, XM_005247681.3:c.1430A>G, XM_005247681.2:c.1430A>G, XM_005247681.1:c.1430A>G, NM_020817.2:c.2393A>G, NM_020817.1:c.2393A>G, NM_001353767.2:c.2327A>G, NM_001353767.1:c.2021A>G, XM_017006959.2:c.1193A>G, XM_017006959.1:c.1193A>G, XM_047448642.1:c.2138A>G, XM_047448641.1:c.2267A>G, XM_017006957.1:c.2138A>G, XM_047448643.1:c.2138A>G, XM_047447885.1:c.*547T>C, XP_011511356.1:p.Lys713Arg, NP_001340695.1:p.Lys785Arg, XP_011511354.1:p.Lys736Arg, XP_005247738.1:p.Lys477Arg, NP_065868.1:p.Lys798Arg, NP_001340696.2:p.Lys776Arg, XP_016862448.1:p.Lys398Arg, XP_047304598.1:p.Lys713Arg, XP_047304597.1:p.Lys756Arg, XP_016862446.1:p.Lys713Arg, XP_047304599.1:p.Lys713Arg

Select item 14717929139.

rs1471792913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:114005514 (GRCh38)
3:113724361 (GRCh37)
Canonical SPDI:: NC_000003.12:114005513:A:C
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.114005514A>C, NC_000003.11:g.113724361A>C, NR_148531.3:n.1741T>G, NR_148531.2:n.1828T>G, NR_148531.1:n.1752T>G, XM_011513054.3:c.1607T>G, XM_011513054.2:c.1607T>G, XM_011513054.1:c.1607T>G, NM_001353766.3:c.1823T>G, NM_001353766.2:c.1823T>G, NM_001353766.1:c.1823T>G, XM_011513052.3:c.1676T>G, XM_011513052.2:c.1676T>G, XM_011513052.1:c.1676T>G, XM_005247681.3:c.899T>G, XM_005247681.2:c.899T>G, XM_005247681.1:c.899T>G, NM_020817.2:c.1862T>G, NM_020817.1:c.1862T>G, NM_001353767.2:c.1796T>G, NM_001353767.1:c.1490T>G, XM_017006959.2:c.662T>G, XM_017006959.1:c.662T>G, XM_047448642.1:c.1607T>G, XM_047448641.1:c.1736T>G, XM_017006957.1:c.1607T>G, XM_047448643.1:c.1607T>G, XP_011511356.1:p.Leu536Arg, NP_001340695.1:p.Leu608Arg, XP_011511354.1:p.Leu559Arg, XP_005247738.1:p.Leu300Arg, NP_065868.1:p.Leu621Arg, NP_001340696.2:p.Leu599Arg, XP_016862448.1:p.Leu221Arg, XP_047304598.1:p.Leu536Arg, XP_047304597.1:p.Leu579Arg, XP_016862446.1:p.Leu536Arg, XP_047304599.1:p.Leu536Arg

Select item 147041876010.

rs1470418760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:114005729 (GRCh38)
3:113724576 (GRCh37)
Canonical SPDI:: NC_000003.12:114005728:C:T
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.114005729C>T, NC_000003.11:g.113724576C>T, NR_148531.3:n.1526G>A, NR_148531.2:n.1613G>A, NR_148531.1:n.1537G>A, XM_011513054.3:c.1392G>A, XM_011513054.2:c.1392G>A, XM_011513054.1:c.1392G>A, NM_001353766.3:c.1608G>A, NM_001353766.2:c.1608G>A, NM_001353766.1:c.1608G>A, XM_011513052.3:c.1461G>A, XM_011513052.2:c.1461G>A, XM_011513052.1:c.1461G>A, XM_005247681.3:c.684G>A, XM_005247681.2:c.684G>A, XM_005247681.1:c.684G>A, NM_020817.2:c.1647G>A, NM_020817.1:c.1647G>A, NM_001353767.2:c.1581G>A, NM_001353767.1:c.1275G>A, XM_017006959.2:c.447G>A, XM_017006959.1:c.447G>A, XM_047448642.1:c.1392G>A, XM_047448641.1:c.1521G>A, XM_017006957.1:c.1392G>A, XM_047448643.1:c.1392G>A

Select item 146906546011.

rs1469065460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:113980712 (GRCh38)
3:113699559 (GRCh37)
Canonical SPDI:: NC_000003.12:113980711:G:C
Gene:: CCDC191 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113980712G>C, NC_000003.11:g.113699559G>C, NR_148531.3:n.2374C>G, NR_148531.2:n.2461C>G, NR_148531.1:n.2385C>G, XM_011513054.3:c.1990C>G, XM_011513054.2:c.1990C>G, XM_011513054.1:c.1990C>G, NM_001353766.3:c.2206C>G, NM_001353766.2:c.2206C>G, NM_001353766.1:c.2206C>G, XM_011513052.3:c.2059C>G, XM_011513052.2:c.2059C>G, XM_011513052.1:c.2059C>G, XM_005247681.3:c.1282C>G, XM_005247681.2:c.1282C>G, XM_005247681.1:c.1282C>G, NM_020817.2:c.2245C>G, NM_020817.1:c.2245C>G, NM_001353767.2:c.2179C>G, NM_001353767.1:c.1873C>G, XM_017006959.2:c.1045C>G, XM_017006959.1:c.1045C>G, XM_047448642.1:c.1990C>G, XM_047448641.1:c.2119C>G, XM_017006957.1:c.1990C>G, XM_047448643.1:c.1990C>G, XP_011511356.1:p.Leu664Val, NP_001340695.1:p.Leu736Val, XP_011511354.1:p.Leu687Val, XP_005247738.1:p.Leu428Val, NP_065868.1:p.Leu749Val, NP_001340696.2:p.Leu727Val, XP_016862448.1:p.Leu349Val, XP_047304598.1:p.Leu664Val, XP_047304597.1:p.Leu707Val, XP_016862446.1:p.Leu664Val, XP_047304599.1:p.Leu664Val

Select item 146630962012.

rs1466309620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:113965278 (GRCh38)
3:113684125 (GRCh37)
Canonical SPDI:: NC_000003.12:113965277:T:A
Gene:: CCDC191 (Varview), ZDHHC23 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.113965278T>A, NC_000003.11:g.113684125T>A, NR_148531.3:n.2817A>T, NR_148531.2:n.2904A>T, NR_148531.1:n.2828A>T, XM_011513054.3:c.2433A>T, XM_011513054.2:c.2433A>T, XM_011513054.1:c.2433A>T, NM_001353766.3:c.2649A>T, NM_001353766.2:c.2649A>T, NM_001353766.1:c.2649A>T, XM_011513052.3:c.2502A>T, XM_011513052.2:c.2502A>T, XM_011513052.1:c.2502A>T, XM_005247681.3:c.1725A>T, XM_005247681.2:c.1725A>T, XM_005247681.1:c.1725A>T, NM_020817.2:c.2688A>T, NM_020817.1:c.2688A>T, NM_001353767.2:c.2622A>T, NM_001353767.1:c.2316A>T, XM_017006959.2:c.1488A>T, XM_017006959.1:c.1488A>T, XM_047448642.1:c.2433A>T, XM_047448641.1:c.2562A>T, XM_017006957.1:c.2433A>T, XM_047448643.1:c.2433A>T

Select item 146429937913.

rs1464299379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:114005699 (GRCh38)
3:113724546 (GRCh37)
Canonical SPDI:: NC_000003.12:114005698:C:T
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.114005699C>T, NC_000003.11:g.113724546C>T, NR_148531.3:n.1556G>A, NR_148531.2:n.1643G>A, NR_148531.1:n.1567G>A, XM_011513054.3:c.1422G>A, XM_011513054.2:c.1422G>A, XM_011513054.1:c.1422G>A, NM_001353766.3:c.1638G>A, NM_001353766.2:c.1638G>A, NM_001353766.1:c.1638G>A, XM_011513052.3:c.1491G>A, XM_011513052.2:c.1491G>A, XM_011513052.1:c.1491G>A, XM_005247681.3:c.714G>A, XM_005247681.2:c.714G>A, XM_005247681.1:c.714G>A, NM_020817.2:c.1677G>A, NM_020817.1:c.1677G>A, NM_001353767.2:c.1611G>A, NM_001353767.1:c.1305G>A, XM_017006959.2:c.477G>A, XM_017006959.1:c.477G>A, XM_047448642.1:c.1422G>A, XM_047448641.1:c.1551G>A, XM_017006957.1:c.1422G>A, XM_047448643.1:c.1422G>A

Select item 146318416114.

rs1463184161 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTTT [Show Flanks]
Chromosome:: 3:113980717 (GRCh38)
3:113699565 (GRCh37)
Canonical SPDI:: NC_000003.12:113980717::TTTTTTTTT
Gene:: CCDC191 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_indel,coding_sequence_variant
HGVS:: NC_000003.12:g.113980717_113980718insTTTTTTTTT, NC_000003.11:g.113699564_113699565insTTTTTTTTT, NR_148531.3:n.2368_2369insAAAAAAAAA, NR_148531.2:n.2455_2456insAAAAAAAAA, NR_148531.1:n.2379_2380insAAAAAAAAA, XM_011513054.3:c.1984_1985insAAAAAAAAA, XM_011513054.2:c.1984_1985insAAAAAAAAA, XM_011513054.1:c.1984_1985insAAAAAAAAA, NM_001353766.3:c.2200_2201insAAAAAAAAA, NM_001353766.2:c.2200_2201insAAAAAAAAA, NM_001353766.1:c.2200_2201insAAAAAAAAA, XM_011513052.3:c.2053_2054insAAAAAAAAA, XM_011513052.2:c.2053_2054insAAAAAAAAA, XM_011513052.1:c.2053_2054insAAAAAAAAA, XM_005247681.3:c.1276_1277insAAAAAAAAA, XM_005247681.2:c.1276_1277insAAAAAAAAA, XM_005247681.1:c.1276_1277insAAAAAAAAA, NM_020817.2:c.2239_2240insAAAAAAAAA, NM_020817.1:c.2239_2240insAAAAAAAAA, NM_001353767.2:c.2173_2174insAAAAAAAAA, NM_001353767.1:c.1867_1868insAAAAAAAAA, XM_017006959.2:c.1039_1040insAAAAAAAAA, XM_017006959.1:c.1039_1040insAAAAAAAAA, XM_047448642.1:c.1984_1985insAAAAAAAAA, XM_047448641.1:c.2113_2114insAAAAAAAAA, XM_017006957.1:c.1984_1985insAAAAAAAAA, XM_047448643.1:c.1984_1985insAAAAAAAAA, XP_011511356.1:p.Val662delinsGluLysLysIle, NP_001340695.1:p.Val734delinsGluLysLysIle, XP_011511354.1:p.Val685delinsGluLysLysIle, XP_005247738.1:p.Val426delinsGluLysLysIle, NP_065868.1:p.Val747delinsGluLysLysIle, NP_001340696.2:p.Val725delinsGluLysLysIle, XP_016862448.1:p.Val347delinsGluLysLysIle, XP_047304598.1:p.Val662delinsGluLysLysIle, XP_047304597.1:p.Val705delinsGluLysLysIle, XP_016862446.1:p.Val662delinsGluLysLysIle, XP_047304599.1:p.Val662delinsGluLysLysIle

Select item 146168071315.

rs1461680713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:113965356 (GRCh38)
3:113684203 (GRCh37)
Canonical SPDI:: NC_000003.12:113965355:C:A
Gene:: CCDC191 (Varview), ZDHHC23 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.113965356C>A, NC_000003.11:g.113684203C>A, NR_148531.3:n.2739G>T, NR_148531.2:n.2826G>T, NR_148531.1:n.2750G>T, XM_011513054.3:c.2355G>T, XM_011513054.2:c.2355G>T, XM_011513054.1:c.2355G>T, NM_001353766.3:c.2571G>T, NM_001353766.2:c.2571G>T, NM_001353766.1:c.2571G>T, XM_011513052.3:c.2424G>T, XM_011513052.2:c.2424G>T, XM_011513052.1:c.2424G>T, XM_005247681.3:c.1647G>T, XM_005247681.2:c.1647G>T, XM_005247681.1:c.1647G>T, NM_020817.2:c.2610G>T, NM_020817.1:c.2610G>T, NM_001353767.2:c.2544G>T, NM_001353767.1:c.2238G>T, XM_017006959.2:c.1410G>T, XM_017006959.1:c.1410G>T, XM_047448642.1:c.2355G>T, XM_047448641.1:c.2484G>T, XM_017006957.1:c.2355G>T, XM_047448643.1:c.2355G>T, XP_011511356.1:p.Arg785Ser, NP_001340695.1:p.Arg857Ser, XP_011511354.1:p.Arg808Ser, XP_005247738.1:p.Arg549Ser, NP_065868.1:p.Arg870Ser, NP_001340696.2:p.Arg848Ser, XP_016862448.1:p.Arg470Ser, XP_047304598.1:p.Arg785Ser, XP_047304597.1:p.Arg828Ser, XP_016862446.1:p.Arg785Ser, XP_047304599.1:p.Arg785Ser

Select item 145818123516.

rs1458181235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113978288 (GRCh38)
3:113697135 (GRCh37)
Canonical SPDI:: NC_000003.12:113978287:T:C
Gene:: CCDC191 (Varview), ZDHHC23 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000142/2 (TOMMO)
HGVS:: NC_000003.12:g.113978288T>C, NC_000003.11:g.113697135T>C, NR_148531.3:n.2633A>G, NR_148531.2:n.2720A>G, NR_148531.1:n.2644A>G, XM_011513054.3:c.2249A>G, XM_011513054.2:c.2249A>G, XM_011513054.1:c.2249A>G, NM_001353766.3:c.2465A>G, NM_001353766.2:c.2465A>G, NM_001353766.1:c.2465A>G, XM_011513052.3:c.2318A>G, XM_011513052.2:c.2318A>G, XM_011513052.1:c.2318A>G, XM_005247681.3:c.1541A>G, XM_005247681.2:c.1541A>G, XM_005247681.1:c.1541A>G, NM_020817.2:c.2504A>G, NM_020817.1:c.2504A>G, NM_001353767.2:c.2438A>G, NM_001353767.1:c.2132A>G, XM_017006959.2:c.1304A>G, XM_017006959.1:c.1304A>G, XM_047448642.1:c.2249A>G, XM_047448641.1:c.2378A>G, XM_017006957.1:c.2249A>G, XM_047448643.1:c.2249A>G, XP_011511356.1:p.His750Arg, NP_001340695.1:p.His822Arg, XP_011511354.1:p.His773Arg, XP_005247738.1:p.His514Arg, NP_065868.1:p.His835Arg, NP_001340696.2:p.His813Arg, XP_016862448.1:p.His435Arg, XP_047304598.1:p.His750Arg, XP_047304597.1:p.His793Arg, XP_016862446.1:p.His750Arg, XP_047304599.1:p.His750Arg

Select item 145404884317.

rs1454048843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:114005602 (GRCh38)
3:113724449 (GRCh37)
Canonical SPDI:: NC_000003.12:114005601:C:T
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.114005602C>T, NC_000003.11:g.113724449C>T, NR_148531.3:n.1653G>A, NR_148531.2:n.1740G>A, NR_148531.1:n.1664G>A, XM_011513054.3:c.1519G>A, XM_011513054.2:c.1519G>A, XM_011513054.1:c.1519G>A, NM_001353766.3:c.1735G>A, NM_001353766.2:c.1735G>A, NM_001353766.1:c.1735G>A, XM_011513052.3:c.1588G>A, XM_011513052.2:c.1588G>A, XM_011513052.1:c.1588G>A, XM_005247681.3:c.811G>A, XM_005247681.2:c.811G>A, XM_005247681.1:c.811G>A, NM_020817.2:c.1774G>A, NM_020817.1:c.1774G>A, NM_001353767.2:c.1708G>A, NM_001353767.1:c.1402G>A, XM_017006959.2:c.574G>A, XM_017006959.1:c.574G>A, XM_047448642.1:c.1519G>A, XM_047448641.1:c.1648G>A, XM_017006957.1:c.1519G>A, XM_047448643.1:c.1519G>A, XP_011511356.1:p.Ala507Thr, NP_001340695.1:p.Ala579Thr, XP_011511354.1:p.Ala530Thr, XP_005247738.1:p.Ala271Thr, NP_065868.1:p.Ala592Thr, NP_001340696.2:p.Ala570Thr, XP_016862448.1:p.Ala192Thr, XP_047304598.1:p.Ala507Thr, XP_047304597.1:p.Ala550Thr, XP_016862446.1:p.Ala507Thr, XP_047304599.1:p.Ala507Thr

Select item 145315574818.

rs1453155748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:114005851 (GRCh38)
3:113724698 (GRCh37)
Canonical SPDI:: NC_000003.12:114005850:T:A
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.114005851T>A, NC_000003.11:g.113724698T>A, NR_148531.3:n.1404A>T, NR_148531.2:n.1491A>T, NR_148531.1:n.1415A>T, XM_011513054.3:c.1270A>T, XM_011513054.2:c.1270A>T, XM_011513054.1:c.1270A>T, NM_001353766.3:c.1486A>T, NM_001353766.2:c.1486A>T, NM_001353766.1:c.1486A>T, XM_011513052.3:c.1339A>T, XM_011513052.2:c.1339A>T, XM_011513052.1:c.1339A>T, XM_005247681.3:c.562A>T, XM_005247681.2:c.562A>T, XM_005247681.1:c.562A>T, NM_020817.2:c.1525A>T, NM_020817.1:c.1525A>T, NM_001353767.2:c.1459A>T, NM_001353767.1:c.1153A>T, XM_017006959.2:c.325A>T, XM_017006959.1:c.325A>T, XM_047448642.1:c.1270A>T, XM_047448641.1:c.1399A>T, XM_017006957.1:c.1270A>T, XM_047448643.1:c.1270A>T, XP_011511356.1:p.Asn424Tyr, NP_001340695.1:p.Asn496Tyr, XP_011511354.1:p.Asn447Tyr, XP_005247738.1:p.Asn188Tyr, NP_065868.1:p.Asn509Tyr, NP_001340696.2:p.Asn487Tyr, XP_016862448.1:p.Asn109Tyr, XP_047304598.1:p.Asn424Tyr, XP_047304597.1:p.Asn467Tyr, XP_016862446.1:p.Asn424Tyr, XP_047304599.1:p.Asn424Tyr

Select item 145281377419.

rs1452813774 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTTA>- [Show Flanks]
Chromosome:: 3:113978250 (GRCh38)
3:113697097 (GRCh37)
Canonical SPDI:: NC_000003.12:113978248:ATGTTA:A
Gene:: CCDC191 (Varview), ZDHHC23 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.113978250_113978254del, NC_000003.11:g.113697097_113697101del, NR_148531.3:n.2668_2672del, NR_148531.2:n.2755_2759del, NR_148531.1:n.2679_2683del, XM_011513054.3:c.2284_2288del, XM_011513054.2:c.2284_2288del, XM_011513054.1:c.2284_2288del, NM_001353766.3:c.2500_2504del, NM_001353766.2:c.2500_2504del, NM_001353766.1:c.2500_2504del, XM_011513052.3:c.2353_2357del, XM_011513052.2:c.2353_2357del, XM_011513052.1:c.2353_2357del, XM_005247681.3:c.1576_1580del, XM_005247681.2:c.1576_1580del, XM_005247681.1:c.1576_1580del, NM_020817.2:c.2539_2543del, NM_020817.1:c.2539_2543del, NM_001353767.2:c.2473_2477del, NM_001353767.1:c.2167_2171del, XM_017006959.2:c.1339_1343del, XM_017006959.1:c.1339_1343del, XM_047448642.1:c.2284_2288del, XM_047448641.1:c.2413_2417del, XM_017006957.1:c.2284_2288del, XM_047448643.1:c.2284_2288del, XP_011511356.1:p.Asn762fs, NP_001340695.1:p.Asn834fs, XP_011511354.1:p.Asn785fs, XP_005247738.1:p.Asn526fs, NP_065868.1:p.Asn847fs, NP_001340696.2:p.Asn825fs, XP_016862448.1:p.Asn447fs, XP_047304598.1:p.Asn762fs, XP_047304597.1:p.Asn805fs, XP_016862446.1:p.Asn762fs, XP_047304599.1:p.Asn762fs

Select item 145133744120.

rs1451337441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:114005525 (GRCh38)
3:113724372 (GRCh37)
Canonical SPDI:: NC_000003.12:114005524:G:A
Gene:: CCDC191 (Varview), LOC105374048 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.114005525G>A, NC_000003.11:g.113724372G>A, NR_148531.3:n.1730C>T, NR_148531.2:n.1817C>T, NR_148531.1:n.1741C>T, XM_011513054.3:c.1596C>T, XM_011513054.2:c.1596C>T, XM_011513054.1:c.1596C>T, NM_001353766.3:c.1812C>T, NM_001353766.2:c.1812C>T, NM_001353766.1:c.1812C>T, XM_011513052.3:c.1665C>T, XM_011513052.2:c.1665C>T, XM_011513052.1:c.1665C>T, XM_005247681.3:c.888C>T, XM_005247681.2:c.888C>T, XM_005247681.1:c.888C>T, NM_020817.2:c.1851C>T, NM_020817.1:c.1851C>T, NM_001353767.2:c.1785C>T, NM_001353767.1:c.1479C>T, XM_017006959.2:c.651C>T, XM_017006959.1:c.651C>T, XM_047448642.1:c.1596C>T, XM_047448641.1:c.1725C>T, XM_017006957.1:c.1596C>T, XM_047448643.1:c.1596C>T

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