SNP Links for Nucleotide (Select 284172363) - SNP

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Select item 14915871911.

rs1491587191 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:44318598 (GRCh38)
2:44545737 (GRCh37)
Canonical SPDI:: NC_000002.12:44318595:ATAT:AT
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.004968/92 (ALFA)
-=0.000004/1 (TOPMED)
-=0.021429/96 (Estonian)
HGVS:: NC_000002.12:g.44318596AT[1], NC_000002.11:g.44545735AT[1], NG_008233.1:g.48139AT[1], NG_016429.1:g.48264AT[1], NM_006036.4:c.*2757AT[1], NM_001171606.2:c.*2757AT[1], NM_001171606.1:c.*2757AT[1], NM_001171613.2:c.*2757AT[1], NM_001171613.1:c.*2757AT[1], NM_001042385.2:c.*2757AT[1], NM_001042386.2:c.*2757AT[1], NM_001171603.1:c.*2757AT[1], NM_001374276.1:c.*2757AT[1], NM_001171617.1:c.*2757AT[1], NM_001374275.1:c.*2757AT[1], NM_001374277.1:c.*2757AT[1], XM_011533047.4:c.*401AT[1], XM_011533047.3:c.*401AT[1], XM_011533047.2:c.*401AT[1], XM_011533047.1:c.*401AT[1], XM_017005385.2:c.*2757AT[1], XM_047446441.1:c.*2830AT[1], XM_047446444.1:c.*2830AT[1], XM_047446442.1:c.*2830AT[1], XM_047446443.1:c.*2830AT[1], XM_047446445.1:c.*2757AT[1], XM_047446446.1:c.*2830AT[1]

Select item 14910947762.

rs1491094776 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCA [Show Flanks]
Chromosome:: 2:44320023 (GRCh38)
2:44547163 (GRCh37)
Canonical SPDI:: NC_000002.12:44320023:ATCA:ATCAATCA
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCAATCA=0./0 (ALFA)
ATCA=0.000004/1 (TOPMED)
ATCA=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44320024_44320027dup, NC_000002.11:g.44547163_44547166dup, NG_008233.1:g.49567_49570dup, NG_016429.1:g.46836_46839dup, NM_006036.4:c.*1329_*1332dup, NM_001171606.2:c.*1329_*1332dup, NM_001171606.1:c.*1329_*1332dup, NM_001171613.2:c.*1329_*1332dup, NM_001171613.1:c.*1329_*1332dup, NM_001042385.2:c.*1329_*1332dup, NM_001042386.2:c.*1329_*1332dup, NM_001171603.1:c.*1329_*1332dup, NM_001374276.1:c.*1329_*1332dup, NM_001171617.1:c.*1329_*1332dup, NM_001374275.1:c.*1329_*1332dup, NM_001374277.1:c.*1329_*1332dup, XM_011533047.4:c.*1829_*1832dup, XM_011533047.3:c.*1829_*1832dup, XM_017005385.2:c.*1329_*1332dup, XM_017005385.1:c.*1329_*1332dup, XM_047446441.1:c.*1402_*1405dup, XM_047446444.1:c.*1402_*1405dup, XM_047446442.1:c.*1402_*1405dup, XM_047446443.1:c.*1402_*1405dup, XM_047446445.1:c.*1329_*1332dup, XM_047446446.1:c.*1402_*1405dup

Select item 14905738053.

rs1490573805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:44339289 (GRCh38)
2:44566428 (GRCh37)
Canonical SPDI:: NC_000002.12:44339288:T:G
Gene:: PREPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44339289T>G, NC_000002.11:g.44566428T>G, NG_016429.1:g.27574A>C, NM_006036.4:c.827A>C, NM_001171606.2:c.827A>C, NM_001171606.1:c.827A>C, NM_001171613.2:c.560A>C, NM_001171613.1:c.560A>C, NM_001042385.2:c.827A>C, NM_001042386.2:c.827A>C, NM_001171603.1:c.827A>C, NM_001374276.1:c.827A>C, NM_001171617.1:c.560A>C, NM_001374275.1:c.827A>C, NM_001374277.1:c.560A>C, XM_017005385.2:c.827A>C, XM_017005385.1:c.827A>C, XM_047446441.1:c.827A>C, XM_047446444.1:c.827A>C, XM_047446442.1:c.827A>C, XM_047446443.1:c.827A>C, XM_047446445.1:c.560A>C, XM_047446446.1:c.560A>C, NP_006027.2:p.Glu276Ala, NP_001165077.1:p.Glu276Ala, NP_001165084.1:p.Glu187Ala, NP_001035844.1:p.Glu276Ala, NP_001035845.1:p.Glu276Ala, NP_001165074.1:p.Glu276Ala, NP_001361205.1:p.Glu276Ala, NP_001165088.1:p.Glu187Ala, NP_001361204.1:p.Glu276Ala, NP_001361206.1:p.Glu187Ala, XP_016860874.1:p.Glu276Ala, XP_047302397.1:p.Glu276Ala, XP_047302400.1:p.Glu276Ala, XP_047302398.1:p.Glu276Ala, XP_047302399.1:p.Glu276Ala, XP_047302401.1:p.Glu187Ala, XP_047302402.1:p.Glu187Ala

Select item 14904636384.

rs1490463638 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:44323373 (GRCh38)
2:44550513 (GRCh37)
Canonical SPDI:: NC_000002.12:44323373::T
Gene:: PREPL (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.44323373_44323374insT, NC_000002.11:g.44550512_44550513insT, NG_016429.1:g.43489_43490insA, NM_006036.4:c.1784_1785insA, NM_001171606.2:c.1784_1785insA, NM_001171606.1:c.1784_1785insA, NM_001171613.2:c.1517_1518insA, NM_001171613.1:c.1517_1518insA, NM_001042385.2:c.1598_1599insA, NM_001042386.2:c.1586_1587insA, NM_001171603.1:c.1784_1785insA, NM_001374276.1:c.1784_1785insA, NM_001171617.1:c.1517_1518insA, NM_001374275.1:c.1784_1785insA, NM_001374277.1:c.1517_1518insA, XM_017005385.2:c.1784_1785insA, XM_017005385.1:c.1784_1785insA, XM_047446441.1:c.1784_1785insA, XM_047446444.1:c.1784_1785insA, XM_047446442.1:c.1784_1785insA, XM_047446443.1:c.1784_1785insA, XM_047446445.1:c.1517_1518insA, XM_047446446.1:c.1517_1518insA, NP_006027.2:p.Thr596fs, NP_001165077.1:p.Thr596fs, NP_001165084.1:p.Thr507fs, NP_001035844.1:p.Thr534fs, NP_001035845.1:p.Thr530fs, NP_001165074.1:p.Thr596fs, NP_001361205.1:p.Thr596fs, NP_001165088.1:p.Thr507fs, NP_001361204.1:p.Thr596fs, NP_001361206.1:p.Thr507fs, XP_016860874.1:p.Thr596fs, XP_047302397.1:p.Thr596fs, XP_047302400.1:p.Thr596fs, XP_047302398.1:p.Thr596fs, XP_047302399.1:p.Thr596fs, XP_047302401.1:p.Thr507fs, XP_047302402.1:p.Thr507fs

Select item 14900621035.

rs1490062103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:44342450 (GRCh38)
2:44569589 (GRCh37)
Canonical SPDI:: NC_000002.12:44342449:C:T
Gene:: PREPL (Varview)
Functional Consequence:: missense_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)
T=0.000008/1 (ExAC)
T=0.000012/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.44342450C>T, NC_000002.11:g.44569589C>T, NG_016429.1:g.24413G>A, NM_006036.4:c.719G>A, NM_001171606.2:c.719G>A, NM_001171606.1:c.719G>A, NM_001171613.2:c.452G>A, NM_001171613.1:c.452G>A, NM_001042385.2:c.719G>A, NM_001042386.2:c.719G>A, NM_001171603.1:c.719G>A, NM_001374276.1:c.719G>A, NM_001171617.1:c.452G>A, NM_001374275.1:c.719G>A, NM_001374277.1:c.452G>A, XM_017005385.2:c.719G>A, XM_017005385.1:c.719G>A, XM_047446441.1:c.719G>A, XM_047446444.1:c.719G>A, XM_047446442.1:c.719G>A, XM_047446443.1:c.719G>A, XM_047446445.1:c.452G>A, XM_047446446.1:c.452G>A, NP_006027.2:p.Arg240His, NP_001165077.1:p.Arg240His, NP_001165084.1:p.Arg151His, NP_001035844.1:p.Arg240His, NP_001035845.1:p.Arg240His, NP_001165074.1:p.Arg240His, NP_001361205.1:p.Arg240His, NP_001165088.1:p.Arg151His, NP_001361204.1:p.Arg240His, NP_001361206.1:p.Arg151His, XP_016860874.1:p.Arg240His, XP_047302397.1:p.Arg240His, XP_047302400.1:p.Arg240His, XP_047302398.1:p.Arg240His, XP_047302399.1:p.Arg240His, XP_047302401.1:p.Arg151His, XP_047302402.1:p.Arg151His

Select item 14892278196.

rs1489227819 [Homo sapiens]

Variant type:: DEL
Alleles:: GTGCCTATGCAAA>- [Show Flanks]
Chromosome:: 2:44318615 (GRCh38)
2:44545754 (GRCh37)
Canonical SPDI:: NC_000002.12:44318614:GTGCCTATGCAAA:
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.0005/6 (GnomAD)
HGVS:: NC_000002.12:g.44318615_44318627del, NC_000002.11:g.44545754_44545766del, NG_008233.1:g.48158_48170del, NG_016429.1:g.48236_48248del, NM_006036.4:c.*2729_*2741del, NM_001171606.2:c.*2729_*2741del, NM_001171606.1:c.*2729_*2741del, NM_001171613.2:c.*2729_*2741del, NM_001171613.1:c.*2729_*2741del, NM_001042385.2:c.*2729_*2741del, NM_001042386.2:c.*2729_*2741del, NM_001171603.1:c.*2729_*2741del, NM_001374276.1:c.*2729_*2741del, NM_001171617.1:c.*2729_*2741del, NM_001374275.1:c.*2729_*2741del, NM_001374277.1:c.*2729_*2741del, XM_011533047.4:c.*420_*432del, XM_011533047.3:c.*420_*432del, XM_011533047.2:c.*420_*432del, XM_011533047.1:c.*420_*432del, XM_017005385.2:c.*2729_*2741del, XM_047446441.1:c.*2802_*2814del, XM_047446444.1:c.*2802_*2814del, XM_047446442.1:c.*2802_*2814del, XM_047446443.1:c.*2802_*2814del, XM_047446445.1:c.*2729_*2741del, XM_047446446.1:c.*2802_*2814del

Select item 14877294347.

rs1487729434 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTCAAA>- [Show Flanks]
Chromosome:: 2:44317710 (GRCh38)
2:44544849 (GRCh37)
Canonical SPDI:: NC_000002.12:44317699:AATTTTCAAATTTTCAAA:AATTTTCAAA
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATTTTCAAA=0.000108/2 (ALFA)
-=0.000083/22 (TOPMED)
-=0.000143/20 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.44317702TTTTCAAA[1], NC_000002.11:g.44544841TTTTCAAA[1], NG_008233.1:g.47245TTTTCAAA[1], NG_016429.1:g.49148TGAAAATT[1], NM_006036.4:c.*3641TGAAAATT[1], NM_001171606.2:c.*3641TGAAAATT[1], NM_001171606.1:c.*3641TGAAAATT[1], NM_001171613.2:c.*3641TGAAAATT[1], NM_001171613.1:c.*3641TGAAAATT[1], NM_001042385.2:c.*3641TGAAAATT[1], NM_001042386.2:c.*3641TGAAAATT[1], NM_001171603.1:c.*3641TGAAAATT[1], NM_001374276.1:c.*3641TGAAAATT[1], NM_001171617.1:c.*3641TGAAAATT[1], NM_001374275.1:c.*3641TGAAAATT[1], NM_001374277.1:c.*3641TGAAAATT[1], XM_017005385.2:c.*3641TGAAAATT[1], XM_047446441.1:c.*3714TGAAAATT[1], XM_047446444.1:c.*3714TGAAAATT[1], XM_047446442.1:c.*3714TGAAAATT[1], XM_047446443.1:c.*3714TGAAAATT[1], XM_047446445.1:c.*3641TGAAAATT[1], XM_047446446.1:c.*3714TGAAAATT[1]

Select item 14876163888.

rs1487616388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:44343865 (GRCh38)
2:44571004 (GRCh37)
Canonical SPDI:: NC_000002.12:44343864:C:G
Gene:: PREPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.44343865C>G, NC_000002.11:g.44571004C>G, NG_016429.1:g.22998G>C, NM_006036.4:c.496G>C, NM_001171606.2:c.496G>C, NM_001171606.1:c.496G>C, NM_001171613.2:c.229G>C, NM_001171613.1:c.229G>C, NM_001042385.2:c.496G>C, NM_001042386.2:c.496G>C, NM_001171603.1:c.496G>C, NM_001374276.1:c.496G>C, NM_001171617.1:c.229G>C, NM_001374275.1:c.496G>C, NM_001374277.1:c.229G>C, XM_017005385.2:c.496G>C, XM_017005385.1:c.496G>C, XM_047446441.1:c.496G>C, XM_047446444.1:c.496G>C, XM_047446442.1:c.496G>C, XM_047446443.1:c.496G>C, XM_047446445.1:c.229G>C, XM_047446446.1:c.229G>C, NP_006027.2:p.Asp166His, NP_001165077.1:p.Asp166His, NP_001165084.1:p.Asp77His, NP_001035844.1:p.Asp166His, NP_001035845.1:p.Asp166His, NP_001165074.1:p.Asp166His, NP_001361205.1:p.Asp166His, NP_001165088.1:p.Asp77His, NP_001361204.1:p.Asp166His, NP_001361206.1:p.Asp77His, XP_016860874.1:p.Asp166His, XP_047302397.1:p.Asp166His, XP_047302400.1:p.Asp166His, XP_047302398.1:p.Asp166His, XP_047302399.1:p.Asp166His, XP_047302401.1:p.Asp77His, XP_047302402.1:p.Asp77His

Select item 14874033899.

rs1487403389 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAATT [Show Flanks]
Chromosome:: 2:44317933 (GRCh38)
2:44545073 (GRCh37)
Canonical SPDI:: NC_000002.12:44317933:GAATT:GAATTGAATT
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAATTGAATT=0./0 (ALFA)
GAATT=0.000004/1 (TOPMED)
GAATT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44317934_44317938dup, NC_000002.11:g.44545073_44545077dup, NG_008233.1:g.47477_47481dup, NG_016429.1:g.48925_48929dup, NM_006036.4:c.*3418_*3422dup, NM_001171606.2:c.*3418_*3422dup, NM_001171606.1:c.*3418_*3422dup, NM_001171613.2:c.*3418_*3422dup, NM_001171613.1:c.*3418_*3422dup, NM_001042385.2:c.*3418_*3422dup, NM_001042386.2:c.*3418_*3422dup, NM_001171603.1:c.*3418_*3422dup, NM_001374276.1:c.*3418_*3422dup, NM_001171617.1:c.*3418_*3422dup, NM_001374275.1:c.*3418_*3422dup, NM_001374277.1:c.*3418_*3422dup, XM_017005385.2:c.*3418_*3422dup, XM_047446441.1:c.*3491_*3495dup, XM_047446444.1:c.*3491_*3495dup, XM_047446442.1:c.*3491_*3495dup, XM_047446443.1:c.*3491_*3495dup, XM_047446445.1:c.*3418_*3422dup, XM_047446446.1:c.*3491_*3495dup

Select item 148689722210.

rs1486897222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:44317621 (GRCh38)
2:44544760 (GRCh37)
Canonical SPDI:: NC_000002.12:44317620:T:A
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.44317621T>A, NC_000002.11:g.44544760T>A, NG_008233.1:g.47164T>A, NG_016429.1:g.49242A>T, NM_006036.4:c.*3735A>T, NM_001171606.2:c.*3735A>T, NM_001171606.1:c.*3735A>T, NM_001171613.2:c.*3735A>T, NM_001171613.1:c.*3735A>T, NM_001042385.2:c.*3735A>T, NM_001042386.2:c.*3735A>T, NM_001171603.1:c.*3735A>T, NM_001374276.1:c.*3735A>T, NM_001171617.1:c.*3735A>T, NM_001374275.1:c.*3735A>T, NM_001374277.1:c.*3735A>T, XM_017005385.2:c.*3735A>T, XM_047446441.1:c.*3808A>T, XM_047446444.1:c.*3808A>T, XM_047446442.1:c.*3808A>T, XM_047446443.1:c.*3808A>T, XM_047446445.1:c.*3735A>T, XM_047446446.1:c.*3808A>T

Select item 148636288811.

rs1486362888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:44359714 (GRCh38)
2:44586853 (GRCh37)
Canonical SPDI:: NC_000002.12:44359713:A:T
Gene:: PREPL (Varview)
Functional Consequence:: intron_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.44359714A>T, NC_000002.11:g.44586853A>T, NG_032944.1:g.2811A>T, NG_016429.1:g.7149T>A, NM_006036.4:c.2T>A, NM_001171606.2:c.2T>A, NM_001171606.1:c.2T>A, NM_001042385.2:c.2T>A, NM_001042386.2:c.2T>A, NM_001171603.1:c.2T>A, NM_001374276.1:c.2T>A, NM_001374275.1:c.2T>A, XM_017005385.2:c.2T>A, XM_017005385.1:c.2T>A, XM_047446441.1:c.2T>A, XM_047446444.1:c.2T>A, XM_047446442.1:c.2T>A, XM_047446443.1:c.2T>A, NP_006027.2:p.Met1Lys, NP_001165077.1:p.Met1Lys, NP_001035844.1:p.Met1Lys, NP_001035845.1:p.Met1Lys, NP_001165074.1:p.Met1Lys, NP_001361205.1:p.Met1Lys, NP_001361204.1:p.Met1Lys, XP_016860874.1:p.Met1Lys, XP_047302397.1:p.Met1Lys, XP_047302400.1:p.Met1Lys, XP_047302398.1:p.Met1Lys, XP_047302399.1:p.Met1Lys

Select item 148612215812.

rs1486122158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:44318162 (GRCh38)
2:44545301 (GRCh37)
Canonical SPDI:: NC_000002.12:44318161:C:T
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,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=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.44318162C>T, NC_000002.11:g.44545301C>T, NG_008233.1:g.47705C>T, NG_016429.1:g.48701G>A, NM_006036.4:c.*3194G>A, NM_001171606.2:c.*3194G>A, NM_001171606.1:c.*3194G>A, NM_001171613.2:c.*3194G>A, NM_001171613.1:c.*3194G>A, NM_001042385.2:c.*3194G>A, NM_001042386.2:c.*3194G>A, NM_001171603.1:c.*3194G>A, NM_001374276.1:c.*3194G>A, NM_001171617.1:c.*3194G>A, NM_001374275.1:c.*3194G>A, NM_001374277.1:c.*3194G>A, XM_011533047.4:c.1662C>T, XM_011533047.3:c.1662C>T, XM_011533047.2:c.1662C>T, XM_011533047.1:c.1662C>T, XM_017005385.2:c.*3194G>A, XM_047446441.1:c.*3267G>A, XM_047446444.1:c.*3267G>A, XM_047446442.1:c.*3267G>A, XM_047446443.1:c.*3267G>A, XM_047446445.1:c.*3194G>A, XM_047446446.1:c.*3267G>A

Select item 148586215313.

rs1485862153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:44317651 (GRCh38)
2:44544790 (GRCh37)
Canonical SPDI:: NC_000002.12:44317650:A:G
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.44317651A>G, NC_000002.11:g.44544790A>G, NG_008233.1:g.47194A>G, NG_016429.1:g.49212T>C, NM_006036.4:c.*3705T>C, NM_001171606.2:c.*3705T>C, NM_001171606.1:c.*3705T>C, NM_001171613.2:c.*3705T>C, NM_001171613.1:c.*3705T>C, NM_001042385.2:c.*3705T>C, NM_001042386.2:c.*3705T>C, NM_001171603.1:c.*3705T>C, NM_001374276.1:c.*3705T>C, NM_001171617.1:c.*3705T>C, NM_001374275.1:c.*3705T>C, NM_001374277.1:c.*3705T>C, XM_017005385.2:c.*3705T>C, XM_047446441.1:c.*3778T>C, XM_047446444.1:c.*3778T>C, XM_047446442.1:c.*3778T>C, XM_047446443.1:c.*3778T>C, XM_047446445.1:c.*3705T>C, XM_047446446.1:c.*3778T>C

Select item 148553582914.

rs1485535829 has merged into rs1281563108 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 2:44317900 (GRCh38)
2:44545039 (GRCh37)
Canonical SPDI:: NC_000002.12:44317896:AAAAA:AAA,NC_000002.12:44317896:AAAAA:AAAAAA
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.44317900_44317901del, NC_000002.12:g.44317901dup, NC_000002.11:g.44545039_44545040del, NC_000002.11:g.44545040dup, NG_008233.1:g.47443_47444del, NG_008233.1:g.47444dup, NG_016429.1:g.48965_48966del, NG_016429.1:g.48966dup, NM_006036.4:c.*3458_*3459del, NM_006036.4:c.*3459dup, NM_001171606.2:c.*3458_*3459del, NM_001171606.2:c.*3459dup, NM_001171606.1:c.*3458_*3459del, NM_001171606.1:c.*3459dup, NM_001171613.2:c.*3458_*3459del, NM_001171613.2:c.*3459dup, NM_001171613.1:c.*3458_*3459del, NM_001171613.1:c.*3459dup, NM_001042385.2:c.*3458_*3459del, NM_001042385.2:c.*3459dup, NM_001042386.2:c.*3458_*3459del, NM_001042386.2:c.*3459dup, NM_001171603.1:c.*3458_*3459del, NM_001171603.1:c.*3459dup, NM_001374276.1:c.*3458_*3459del, NM_001374276.1:c.*3459dup, NM_001171617.1:c.*3458_*3459del, NM_001171617.1:c.*3459dup, NM_001374275.1:c.*3458_*3459del, NM_001374275.1:c.*3459dup, NM_001374277.1:c.*3458_*3459del, NM_001374277.1:c.*3459dup, XM_017005385.2:c.*3458_*3459del, XM_017005385.2:c.*3459dup, XM_047446441.1:c.*3531_*3532del, XM_047446441.1:c.*3532dup, XM_047446444.1:c.*3531_*3532del, XM_047446444.1:c.*3532dup, XM_047446442.1:c.*3531_*3532del, XM_047446442.1:c.*3532dup, XM_047446443.1:c.*3531_*3532del, XM_047446443.1:c.*3532dup, XM_047446445.1:c.*3458_*3459del, XM_047446445.1:c.*3459dup, XM_047446446.1:c.*3531_*3532del, XM_047446446.1:c.*3532dup

Select item 148544419415.

rs1485444194 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGAAATGATACATT>- [Show Flanks]
Chromosome:: 2:44318598 (GRCh38)
2:44545737 (GRCh37)
Canonical SPDI:: NC_000002.12:44318596:TATGAAATGATACATT:T
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
HGVS:: NC_000002.12:g.44318598_44318612del, NC_000002.11:g.44545737_44545751del, NG_008233.1:g.48141_48155del, NG_016429.1:g.48252_48266del, NM_006036.4:c.*2745_*2759del, NM_001171606.2:c.*2745_*2759del, NM_001171606.1:c.*2745_*2759del, NM_001171613.2:c.*2745_*2759del, NM_001171613.1:c.*2745_*2759del, NM_001042385.2:c.*2745_*2759del, NM_001042386.2:c.*2745_*2759del, NM_001171603.1:c.*2745_*2759del, NM_001374276.1:c.*2745_*2759del, NM_001171617.1:c.*2745_*2759del, NM_001374275.1:c.*2745_*2759del, NM_001374277.1:c.*2745_*2759del, XM_011533047.4:c.*403_*417del, XM_011533047.3:c.*403_*417del, XM_011533047.2:c.*403_*417del, XM_011533047.1:c.*403_*417del, XM_017005385.2:c.*2745_*2759del, XM_047446441.1:c.*2818_*2832del, XM_047446444.1:c.*2818_*2832del, XM_047446442.1:c.*2818_*2832del, XM_047446443.1:c.*2818_*2832del, XM_047446445.1:c.*2745_*2759del, XM_047446446.1:c.*2818_*2832del

Select item 148521101916.

rs1485211019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:44320753 (GRCh38)
2:44547892 (GRCh37)
Canonical SPDI:: NC_000002.12:44320752:T:C
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44320753T>C, NC_000002.11:g.44547892T>C, NG_008233.1:g.50296T>C, NM_000341.4:c.*114T>C, NM_000341.3:c.*114T>C, NG_016429.1:g.46110A>G, NM_006036.4:c.*603A>G, NM_001171606.2:c.*603A>G, NM_001171606.1:c.*603A>G, NM_001171613.2:c.*603A>G, NM_001171613.1:c.*603A>G, NM_001042385.2:c.*603A>G, NM_001042386.2:c.*603A>G, NM_001171603.1:c.*603A>G, NM_001374276.1:c.*603A>G, NM_001171617.1:c.*603A>G, NM_001374275.1:c.*603A>G, NM_001374277.1:c.*603A>G, XM_011533047.4:c.*2558T>C, XM_011533047.3:c.*2558T>C, XM_017005385.2:c.*603A>G, XM_017005385.1:c.*603A>G, XM_047446441.1:c.*676A>G, XM_047446444.1:c.*676A>G, XM_047446442.1:c.*676A>G, XM_047446443.1:c.*676A>G, XM_047446445.1:c.*603A>G, XM_047446446.1:c.*676A>G

Select item 148457970917.

rs1484579709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:44320526 (GRCh38)
2:44547665 (GRCh37)
Canonical SPDI:: NC_000002.12:44320525:G:C
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000038/10 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.44320526G>C, NC_000002.11:g.44547665G>C, NG_008233.1:g.50069G>C, NM_000341.4:c.1945G>C, NM_000341.3:c.1945G>C, NG_016429.1:g.46337C>G, NM_006036.4:c.*830C>G, NM_001171606.2:c.*830C>G, NM_001171606.1:c.*830C>G, NM_001171613.2:c.*830C>G, NM_001171613.1:c.*830C>G, NM_001042385.2:c.*830C>G, NM_001042386.2:c.*830C>G, NM_001171603.1:c.*830C>G, NM_001374276.1:c.*830C>G, NM_001171617.1:c.*830C>G, NM_001374275.1:c.*830C>G, NM_001374277.1:c.*830C>G, XM_011533047.4:c.*2331G>C, XM_011533047.3:c.*2331G>C, XM_017005385.2:c.*830C>G, XM_017005385.1:c.*830C>G, XM_047446441.1:c.*903C>G, XM_047446444.1:c.*903C>G, XM_047446442.1:c.*903C>G, XM_047446443.1:c.*903C>G, XM_047446445.1:c.*830C>G, XM_047446446.1:c.*903C>G, NP_000332.2:p.Glu649Gln

Select item 148456488918.

rs1484564889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:44343921 (GRCh38)
2:44571060 (GRCh37)
Canonical SPDI:: NC_000002.12:44343920:T:C
Gene:: PREPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.44343921T>C, NC_000002.11:g.44571060T>C, NG_016429.1:g.22942A>G, NM_006036.4:c.440A>G, NM_001171606.2:c.440A>G, NM_001171606.1:c.440A>G, NM_001171613.2:c.173A>G, NM_001171613.1:c.173A>G, NM_001042385.2:c.440A>G, NM_001042386.2:c.440A>G, NM_001171603.1:c.440A>G, NM_001374276.1:c.440A>G, NM_001171617.1:c.173A>G, NM_001374275.1:c.440A>G, NM_001374277.1:c.173A>G, XM_017005385.2:c.440A>G, XM_017005385.1:c.440A>G, XM_047446441.1:c.440A>G, XM_047446444.1:c.440A>G, XM_047446442.1:c.440A>G, XM_047446443.1:c.440A>G, XM_047446445.1:c.173A>G, XM_047446446.1:c.173A>G, NP_006027.2:p.Asn147Ser, NP_001165077.1:p.Asn147Ser, NP_001165084.1:p.Asn58Ser, NP_001035844.1:p.Asn147Ser, NP_001035845.1:p.Asn147Ser, NP_001165074.1:p.Asn147Ser, NP_001361205.1:p.Asn147Ser, NP_001165088.1:p.Asn58Ser, NP_001361204.1:p.Asn147Ser, NP_001361206.1:p.Asn58Ser, XP_016860874.1:p.Asn147Ser, XP_047302397.1:p.Asn147Ser, XP_047302400.1:p.Asn147Ser, XP_047302398.1:p.Asn147Ser, XP_047302399.1:p.Asn147Ser, XP_047302401.1:p.Asn58Ser, XP_047302402.1:p.Asn58Ser

Select item 148363030519.

rs1483630305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:44318925 (GRCh38)
2:44546064 (GRCh37)
Canonical SPDI:: NC_000002.12:44318924:C:A
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44318925C>A, NC_000002.11:g.44546064C>A, NG_008233.1:g.48468C>A, NG_016429.1:g.47938G>T, NM_006036.4:c.*2431G>T, NM_001171606.2:c.*2431G>T, NM_001171606.1:c.*2431G>T, NM_001171613.2:c.*2431G>T, NM_001171613.1:c.*2431G>T, NM_001042385.2:c.*2431G>T, NM_001042386.2:c.*2431G>T, NM_001171603.1:c.*2431G>T, NM_001374276.1:c.*2431G>T, NM_001171617.1:c.*2431G>T, NM_001374275.1:c.*2431G>T, NM_001374277.1:c.*2431G>T, XM_011533047.4:c.*730C>A, XM_011533047.3:c.*730C>A, XM_011533047.1:c.*730C>A, XM_017005385.2:c.*2431G>T, XM_017005385.1:c.*2431G>T, XM_047446441.1:c.*2504G>T, XM_047446444.1:c.*2504G>T, XM_047446442.1:c.*2504G>T, XM_047446443.1:c.*2504G>T, XM_047446445.1:c.*2431G>T, XM_047446446.1:c.*2504G>T

Select item 148360676020.

rs1483606760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:44319141 (GRCh38)
2:44546280 (GRCh37)
Canonical SPDI:: NC_000002.12:44319140:T:C,NC_000002.12:44319140:T:G
Gene:: SLC3A1 (Varview), PREPL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44319141T>C, NC_000002.12:g.44319141T>G, NC_000002.11:g.44546280T>C, NC_000002.11:g.44546280T>G, NG_008233.1:g.48684T>C, NG_008233.1:g.48684T>G, NG_016429.1:g.47722A>G, NG_016429.1:g.47722A>C, NM_006036.4:c.*2215A>G, NM_006036.4:c.*2215A>C, NM_001171606.2:c.*2215A>G, NM_001171606.2:c.*2215A>C, NM_001171606.1:c.*2215A>G, NM_001171606.1:c.*2215A>C, NM_001171613.2:c.*2215A>G, NM_001171613.2:c.*2215A>C, NM_001171613.1:c.*2215A>G, NM_001171613.1:c.*2215A>C, NM_001042385.2:c.*2215A>G, NM_001042385.2:c.*2215A>C, NM_001042386.2:c.*2215A>G, NM_001042386.2:c.*2215A>C, NM_001171603.1:c.*2215A>G, NM_001171603.1:c.*2215A>C, NM_001374276.1:c.*2215A>G, NM_001374276.1:c.*2215A>C, NM_001171617.1:c.*2215A>G, NM_001171617.1:c.*2215A>C, NM_001374275.1:c.*2215A>G, NM_001374275.1:c.*2215A>C, NM_001374277.1:c.*2215A>G, NM_001374277.1:c.*2215A>C, XM_011533047.4:c.*946T>C, XM_011533047.4:c.*946T>G, XM_011533047.3:c.*946T>C, XM_011533047.3:c.*946T>G, XM_011533047.1:c.*946T>C, XM_011533047.1:c.*946T>G, XM_017005385.2:c.*2215A>G, XM_017005385.2:c.*2215A>C, XM_017005385.1:c.*2215A>G, XM_017005385.1:c.*2215A>C, XM_047446441.1:c.*2288A>G, XM_047446441.1:c.*2288A>C, XM_047446444.1:c.*2288A>G, XM_047446444.1:c.*2288A>C, XM_047446442.1:c.*2288A>G, XM_047446442.1:c.*2288A>C, XM_047446443.1:c.*2288A>G, XM_047446443.1:c.*2288A>C, XM_047446445.1:c.*2215A>G, XM_047446445.1:c.*2215A>C, XM_047446446.1:c.*2288A>G, XM_047446446.1:c.*2288A>C

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