SNP Links for Protein (Select 1189690202) - SNP

Links from Protein

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Select item 14905272401.

rs1490527240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6462064 (GRCh38)
12:6571230 (GRCh37)
Canonical SPDI:: NC_000012.12:6462063:A:G
Gene:: VAMP1 (Varview), TAPBPL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6462064A>G, NC_000012.11:g.6571230A>G, NG_042188.2:g.13836T>C, NM_018009.5:c.1322A>G, NM_018009.4:c.1322A>G, XR_001748777.3:n.1529A>G, XR_001748777.2:n.1499A>G, XR_001748777.1:n.1560A>G, XR_001748778.3:n.1529A>G, XR_001748778.2:n.1499A>G, XR_001748778.1:n.1560A>G, NR_147129.2:n.1796A>G, NR_147129.1:n.1827A>G, NR_147128.2:n.1761A>G, NR_147128.1:n.1792A>G, NR_147127.2:n.1636A>G, NR_147127.1:n.1667A>G, NR_147126.2:n.1626A>G, NR_147126.1:n.1601A>G, NM_001351355.2:c.932A>G, NM_001351355.1:c.932A>G, NP_060479.3:p.Glu441Gly, NP_001338284.1:p.Glu311Gly

Select item 14896180622.

rs1489618062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6458870 (GRCh38)
12:6568036 (GRCh37)
Canonical SPDI:: NC_000012.12:6458869:G:A
Gene:: TAPBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6458870G>A, NC_000012.11:g.6568036G>A, NM_018009.5:c.1130G>A, NM_018009.4:c.1130G>A, XR_001748777.3:n.1337G>A, XR_001748777.2:n.1307G>A, XR_001748777.1:n.1368G>A, XR_001748778.3:n.1337G>A, XR_001748778.2:n.1307G>A, XR_001748778.1:n.1368G>A, NR_147129.2:n.1337G>A, NR_147129.1:n.1368G>A, NR_147128.2:n.1337G>A, NR_147128.1:n.1368G>A, NR_147127.2:n.1212G>A, NR_147127.1:n.1243G>A, NR_147126.2:n.1202G>A, NR_147126.1:n.1177G>A, NM_001351355.2:c.740G>A, NM_001351355.1:c.740G>A, NP_060479.3:p.Gly377Asp, NP_001338284.1:p.Gly247Asp

Select item 14852193233.

rs1485219323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:6453561 (GRCh38)
12:6562727 (GRCh37)
Canonical SPDI:: NC_000012.12:6453560:A:T
Gene:: TAPBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6453561A>T, NC_000012.11:g.6562727A>T, NG_031995.1:g.13677A>T, NM_018009.5:c.410A>T, NM_018009.4:c.410A>T, XR_001748777.3:n.617A>T, XR_001748777.2:n.587A>T, XR_001748777.1:n.648A>T, XR_001748778.3:n.617A>T, XR_001748778.2:n.587A>T, XR_001748778.1:n.648A>T, NR_147129.2:n.617A>T, NR_147129.1:n.648A>T, NR_147128.2:n.617A>T, NR_147128.1:n.648A>T, NR_147127.2:n.617A>T, NR_147127.1:n.648A>T, NR_147126.2:n.482A>T, NR_147126.1:n.457A>T, NM_001351355.2:c.20A>T, NM_001351355.1:c.20A>T, NP_060479.3:p.Lys137Met, NP_001338284.1:p.Lys7Met

Select item 14837451234.

rs1483745123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6453637 (GRCh38)
12:6562803 (GRCh37)
Canonical SPDI:: NC_000012.12:6453636:C:T
Gene:: TAPBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6453637C>T, NC_000012.11:g.6562803C>T, NG_031995.1:g.13753C>T, NM_018009.5:c.486C>T, NM_018009.4:c.486C>T, XR_001748777.3:n.693C>T, XR_001748777.2:n.663C>T, XR_001748777.1:n.724C>T, XR_001748778.3:n.693C>T, XR_001748778.2:n.663C>T, XR_001748778.1:n.724C>T, NR_147129.2:n.693C>T, NR_147129.1:n.724C>T, NR_147128.2:n.693C>T, NR_147128.1:n.724C>T, NR_147127.2:n.693C>T, NR_147127.1:n.724C>T, NR_147126.2:n.558C>T, NR_147126.1:n.533C>T, NM_001351355.2:c.96C>T, NM_001351355.1:c.96C>T

Select item 14830366765.

rs1483036676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6458818 (GRCh38)
12:6567984 (GRCh37)
Canonical SPDI:: NC_000012.12:6458817:G:A
Gene:: TAPBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6458818G>A, NC_000012.11:g.6567984G>A, NM_018009.5:c.1078G>A, NM_018009.4:c.1078G>A, XR_001748777.3:n.1285G>A, XR_001748777.2:n.1255G>A, XR_001748777.1:n.1316G>A, XR_001748778.3:n.1285G>A, XR_001748778.2:n.1255G>A, XR_001748778.1:n.1316G>A, NR_147129.2:n.1285G>A, NR_147129.1:n.1316G>A, NR_147128.2:n.1285G>A, NR_147128.1:n.1316G>A, NR_147127.2:n.1160G>A, NR_147127.1:n.1191G>A, NR_147126.2:n.1150G>A, NR_147126.1:n.1125G>A, NM_001351355.2:c.688G>A, NM_001351355.1:c.688G>A, NP_060479.3:p.Ala360Thr, NP_001338284.1:p.Ala230Thr

Select item 14794617946.

rs1479461794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6453714 (GRCh38)
12:6562880 (GRCh37)
Canonical SPDI:: NC_000012.12:6453713:C:T
Gene:: TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.6453714C>T, NC_000012.11:g.6562880C>T, NG_031995.1:g.13830C>T, NM_018009.5:c.563C>T, NM_018009.4:c.563C>T, XR_001748777.3:n.770C>T, XR_001748777.2:n.740C>T, XR_001748777.1:n.801C>T, XR_001748778.3:n.770C>T, XR_001748778.2:n.740C>T, XR_001748778.1:n.801C>T, NR_147129.2:n.770C>T, NR_147129.1:n.801C>T, NR_147128.2:n.770C>T, NR_147128.1:n.801C>T, NR_147127.2:n.770C>T, NR_147127.1:n.801C>T, NR_147126.2:n.635C>T, NR_147126.1:n.610C>T, NM_001351355.2:c.173C>T, NM_001351355.1:c.173C>T, NP_060479.3:p.Ala188Val, NP_001338284.1:p.Ala58Val

Select item 14770978597.

rs1477097859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6458825 (GRCh38)
12:6567991 (GRCh37)
Canonical SPDI:: NC_000012.12:6458824:C:T
Gene:: TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6458825C>T, NC_000012.11:g.6567991C>T, NM_018009.5:c.1085C>T, NM_018009.4:c.1085C>T, XR_001748777.3:n.1292C>T, XR_001748777.2:n.1262C>T, XR_001748777.1:n.1323C>T, XR_001748778.3:n.1292C>T, XR_001748778.2:n.1262C>T, XR_001748778.1:n.1323C>T, NR_147129.2:n.1292C>T, NR_147129.1:n.1323C>T, NR_147128.2:n.1292C>T, NR_147128.1:n.1323C>T, NR_147127.2:n.1167C>T, NR_147127.1:n.1198C>T, NR_147126.2:n.1157C>T, NR_147126.1:n.1132C>T, NM_001351355.2:c.695C>T, NM_001351355.1:c.695C>T, NP_060479.3:p.Thr362Ile, NP_001338284.1:p.Thr232Ile

Select item 14731647108.

rs1473164710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6457446 (GRCh38)
12:6566612 (GRCh37)
Canonical SPDI:: NC_000012.12:6457445:C:T
Gene:: TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002461/11 (ALFA)
T=0.000029/4 (GnomAD)
T=0.002455/11 (Estonian)
HGVS:: NC_000012.12:g.6457446C>T, NC_000012.11:g.6566612C>T, NM_018009.5:c.606C>T, NM_018009.4:c.606C>T, XR_001748777.3:n.813C>T, XR_001748777.2:n.783C>T, XR_001748777.1:n.844C>T, XR_001748778.3:n.813C>T, XR_001748778.2:n.783C>T, XR_001748778.1:n.844C>T, NR_147129.2:n.813C>T, NR_147129.1:n.844C>T, NR_147128.2:n.813C>T, NR_147128.1:n.844C>T, NR_147127.2:n.813C>T, NR_147127.1:n.844C>T, NR_147126.2:n.678C>T, NR_147126.1:n.653C>T, NM_001351355.2:c.216C>T, NM_001351355.1:c.216C>T

Select item 14715567709.

rs1471556770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:6458919 (GRCh38)
12:6568085 (GRCh37)
Canonical SPDI:: NC_000012.12:6458918:T:A,NC_000012.12:6458918:T:G
Gene:: TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6458919T>A, NC_000012.12:g.6458919T>G, NC_000012.11:g.6568085T>A, NC_000012.11:g.6568085T>G, NM_018009.5:c.1179T>A, NM_018009.5:c.1179T>G, NM_018009.4:c.1179T>A, NM_018009.4:c.1179T>G, XR_001748777.3:n.1386T>A, XR_001748777.3:n.1386T>G, XR_001748777.2:n.1356T>A, XR_001748777.2:n.1356T>G, XR_001748777.1:n.1417T>A, XR_001748777.1:n.1417T>G, XR_001748778.3:n.1386T>A, XR_001748778.3:n.1386T>G, XR_001748778.2:n.1356T>A, XR_001748778.2:n.1356T>G, XR_001748778.1:n.1417T>A, XR_001748778.1:n.1417T>G, NR_147129.2:n.1386T>A, NR_147129.2:n.1386T>G, NR_147129.1:n.1417T>A, NR_147129.1:n.1417T>G, NR_147128.2:n.1386T>A, NR_147128.2:n.1386T>G, NR_147128.1:n.1417T>A, NR_147128.1:n.1417T>G, NR_147127.2:n.1261T>A, NR_147127.2:n.1261T>G, NR_147127.1:n.1292T>A, NR_147127.1:n.1292T>G, NR_147126.2:n.1251T>A, NR_147126.2:n.1251T>G, NR_147126.1:n.1226T>A, NR_147126.1:n.1226T>G, NM_001351355.2:c.789T>A, NM_001351355.2:c.789T>G, NM_001351355.1:c.789T>A, NM_001351355.1:c.789T>G

Select item 146858661710.

rs1468586617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6457583 (GRCh38)
12:6566749 (GRCh37)
Canonical SPDI:: NC_000012.12:6457582:C:T
Gene:: TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6457583C>T, NC_000012.11:g.6566749C>T, NM_018009.5:c.743C>T, NM_018009.4:c.743C>T, XR_001748777.3:n.950C>T, XR_001748777.2:n.920C>T, XR_001748777.1:n.981C>T, XR_001748778.3:n.950C>T, XR_001748778.2:n.920C>T, XR_001748778.1:n.981C>T, NR_147129.2:n.950C>T, NR_147129.1:n.981C>T, NR_147128.2:n.950C>T, NR_147128.1:n.981C>T, NR_147126.2:n.815C>T, NR_147126.1:n.790C>T, NM_001351355.2:c.353C>T, NM_001351355.1:c.353C>T, NP_060479.3:p.Ala248Val, NP_001338284.1:p.Ala118Val

Select item 146652281711.

rs1466522817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6458666 (GRCh38)
12:6567832 (GRCh37)
Canonical SPDI:: NC_000012.12:6458665:G:C
Gene:: TAPBPL (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=0.000029/4 (GnomAD)
C=0.000036/9 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6458666G>C, NC_000012.11:g.6567832G>C, NM_018009.5:c.926G>C, NM_018009.4:c.926G>C, XR_001748777.3:n.1133G>C, XR_001748777.2:n.1103G>C, XR_001748777.1:n.1164G>C, XR_001748778.3:n.1133G>C, XR_001748778.2:n.1103G>C, XR_001748778.1:n.1164G>C, NR_147129.2:n.1133G>C, NR_147129.1:n.1164G>C, NR_147128.2:n.1133G>C, NR_147128.1:n.1164G>C, NR_147127.2:n.1008G>C, NR_147127.1:n.1039G>C, NR_147126.2:n.998G>C, NR_147126.1:n.973G>C, NM_001351355.2:c.536G>C, NM_001351355.1:c.536G>C, NP_060479.3:p.Ser309Thr, NP_001338284.1:p.Ser179Thr

Select item 146427402612.

rs1464274026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:6457662 (GRCh38)
12:6566828 (GRCh37)
Canonical SPDI:: NC_000012.12:6457661:T:A
Gene:: TAPBPL (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6457662T>A, NC_000012.11:g.6566828T>A, NM_018009.5:c.822T>A, NM_018009.4:c.822T>A, XR_001748777.3:n.1029T>A, XR_001748777.2:n.999T>A, XR_001748777.1:n.1060T>A, XR_001748778.3:n.1029T>A, XR_001748778.2:n.999T>A, XR_001748778.1:n.1060T>A, NR_147129.2:n.1029T>A, NR_147129.1:n.1060T>A, NR_147128.2:n.1029T>A, NR_147128.1:n.1060T>A, NR_147126.2:n.894T>A, NR_147126.1:n.869T>A, NM_001351355.2:c.432T>A, NM_001351355.1:c.432T>A

Select item 146381181613.

rs1463811816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:6462076 (GRCh38)
12:6571242 (GRCh37)
Canonical SPDI:: NC_000012.12:6462075:C:A,NC_000012.12:6462075:C:T
Gene:: VAMP1 (Varview), TAPBPL (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6462076C>A, NC_000012.12:g.6462076C>T, NC_000012.11:g.6571242C>A, NC_000012.11:g.6571242C>T, NG_042188.2:g.13824G>T, NG_042188.2:g.13824G>A, NM_018009.5:c.1334C>A, NM_018009.5:c.1334C>T, NM_018009.4:c.1334C>A, NM_018009.4:c.1334C>T, XR_001748777.3:n.1541C>A, XR_001748777.3:n.1541C>T, XR_001748777.2:n.1511C>A, XR_001748777.2:n.1511C>T, XR_001748777.1:n.1572C>A, XR_001748777.1:n.1572C>T, XR_001748778.3:n.1541C>A, XR_001748778.3:n.1541C>T, XR_001748778.2:n.1511C>A, XR_001748778.2:n.1511C>T, XR_001748778.1:n.1572C>A, XR_001748778.1:n.1572C>T, NR_147129.2:n.1808C>A, NR_147129.2:n.1808C>T, NR_147129.1:n.1839C>A, NR_147129.1:n.1839C>T, NR_147128.2:n.1773C>A, NR_147128.2:n.1773C>T, NR_147128.1:n.1804C>A, NR_147128.1:n.1804C>T, NR_147127.2:n.1648C>A, NR_147127.2:n.1648C>T, NR_147127.1:n.1679C>A, NR_147127.1:n.1679C>T, NR_147126.2:n.1638C>A, NR_147126.2:n.1638C>T, NR_147126.1:n.1613C>A, NR_147126.1:n.1613C>T, NM_001351355.2:c.944C>A, NM_001351355.2:c.944C>T, NM_001351355.1:c.944C>A, NM_001351355.1:c.944C>T, NP_060479.3:p.Thr445Asn, NP_060479.3:p.Thr445Ile, NP_001338284.1:p.Thr315Asn, NP_001338284.1:p.Thr315Ile

Select item 145961388514.

rs1459613885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6453618 (GRCh38)
12:6562784 (GRCh37)
Canonical SPDI:: NC_000012.12:6453617:C:T
Gene:: TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6453618C>T, NC_000012.11:g.6562784C>T, NG_031995.1:g.13734C>T, NM_018009.5:c.467C>T, NM_018009.4:c.467C>T, XR_001748777.3:n.674C>T, XR_001748777.2:n.644C>T, XR_001748777.1:n.705C>T, XR_001748778.3:n.674C>T, XR_001748778.2:n.644C>T, XR_001748778.1:n.705C>T, NR_147129.2:n.674C>T, NR_147129.1:n.705C>T, NR_147128.2:n.674C>T, NR_147128.1:n.705C>T, NR_147127.2:n.674C>T, NR_147127.1:n.705C>T, NR_147126.2:n.539C>T, NR_147126.1:n.514C>T, NM_001351355.2:c.77C>T, NM_001351355.1:c.77C>T, NP_060479.3:p.Ser156Phe, NP_001338284.1:p.Ser26Phe

Select item 145930195415.

rs1459301954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6460896 (GRCh38)
12:6570062 (GRCh37)
Canonical SPDI:: NC_000012.12:6460895:T:C
Gene:: TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6460896T>C, NC_000012.11:g.6570062T>C, NG_042188.2:g.15004A>G, NM_018009.5:c.1249T>C, NM_018009.4:c.1249T>C, XR_001748777.3:n.1456T>C, XR_001748777.2:n.1426T>C, XR_001748777.1:n.1487T>C, XR_001748778.3:n.1456T>C, XR_001748778.2:n.1426T>C, XR_001748778.1:n.1487T>C, NR_147129.2:n.1456T>C, NR_147129.1:n.1487T>C, NR_147128.2:n.1456T>C, NR_147128.1:n.1487T>C, NR_147127.2:n.1331T>C, NR_147127.1:n.1362T>C, NR_147126.2:n.1321T>C, NR_147126.1:n.1296T>C, NM_001351355.2:c.859T>C, NM_001351355.1:c.859T>C, NP_060479.3:p.Phe417Leu, NP_001338284.1:p.Phe287Leu

Select item 145648273116.

rs1456482731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6462105 (GRCh38)
12:6571271 (GRCh37)
Canonical SPDI:: NC_000012.12:6462104:C:T
Gene:: VAMP1 (Varview), TAPBPL (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.6462105C>T, NC_000012.11:g.6571271C>T, NG_042188.2:g.13795G>A, NM_018009.5:c.1363C>T, NM_018009.4:c.1363C>T, XR_001748777.3:n.1570C>T, XR_001748777.2:n.1540C>T, XR_001748777.1:n.1601C>T, XR_001748778.3:n.1570C>T, XR_001748778.2:n.1540C>T, XR_001748778.1:n.1601C>T, NR_147129.2:n.1837C>T, NR_147129.1:n.1868C>T, NR_147128.2:n.1802C>T, NR_147128.1:n.1833C>T, NR_147127.2:n.1677C>T, NR_147127.1:n.1708C>T, NR_147126.2:n.1667C>T, NR_147126.1:n.1642C>T, NM_001351355.2:c.973C>T, NM_001351355.1:c.973C>T, NP_060479.3:p.His455Tyr, NP_001338284.1:p.His325Tyr

Select item 144993433117.

rs1449934331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:6453668 (GRCh38)
12:6562834 (GRCh37)
Canonical SPDI:: NC_000012.12:6453667:C:A,NC_000012.12:6453667:C:G
Gene:: TAPBPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6453668C>A, NC_000012.12:g.6453668C>G, NC_000012.11:g.6562834C>A, NC_000012.11:g.6562834C>G, NG_031995.1:g.13784C>A, NG_031995.1:g.13784C>G, NM_018009.5:c.517C>A, NM_018009.5:c.517C>G, NM_018009.4:c.517C>A, NM_018009.4:c.517C>G, XR_001748777.3:n.724C>A, XR_001748777.3:n.724C>G, XR_001748777.2:n.694C>A, XR_001748777.2:n.694C>G, XR_001748777.1:n.755C>A, XR_001748777.1:n.755C>G, XR_001748778.3:n.724C>A, XR_001748778.3:n.724C>G, XR_001748778.2:n.694C>A, XR_001748778.2:n.694C>G, XR_001748778.1:n.755C>A, XR_001748778.1:n.755C>G, NR_147129.2:n.724C>A, NR_147129.2:n.724C>G, NR_147129.1:n.755C>A, NR_147129.1:n.755C>G, NR_147128.2:n.724C>A, NR_147128.2:n.724C>G, NR_147128.1:n.755C>A, NR_147128.1:n.755C>G, NR_147127.2:n.724C>A, NR_147127.2:n.724C>G, NR_147127.1:n.755C>A, NR_147127.1:n.755C>G, NR_147126.2:n.589C>A, NR_147126.2:n.589C>G, NR_147126.1:n.564C>A, NR_147126.1:n.564C>G, NM_001351355.2:c.127C>A, NM_001351355.2:c.127C>G, NM_001351355.1:c.127C>A, NM_001351355.1:c.127C>G, NP_060479.3:p.Pro173Thr, NP_060479.3:p.Pro173Ala, NP_001338284.1:p.Pro43Thr, NP_001338284.1:p.Pro43Ala

Select item 144992983518.

rs1449929835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6458861 (GRCh38)
12:6568027 (GRCh37)
Canonical SPDI:: NC_000012.12:6458860:G:A
Gene:: TAPBPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.6458861G>A, NC_000012.11:g.6568027G>A, NM_018009.5:c.1121G>A, NM_018009.4:c.1121G>A, XR_001748777.3:n.1328G>A, XR_001748777.2:n.1298G>A, XR_001748777.1:n.1359G>A, XR_001748778.3:n.1328G>A, XR_001748778.2:n.1298G>A, XR_001748778.1:n.1359G>A, NR_147129.2:n.1328G>A, NR_147129.1:n.1359G>A, NR_147128.2:n.1328G>A, NR_147128.1:n.1359G>A, NR_147127.2:n.1203G>A, NR_147127.1:n.1234G>A, NR_147126.2:n.1193G>A, NR_147126.1:n.1168G>A, NM_001351355.2:c.731G>A, NM_001351355.1:c.731G>A, NP_060479.3:p.Gly374Asp, NP_001338284.1:p.Gly244Asp

Select item 144802774019.

rs1448027740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6457728 (GRCh38)
12:6566894 (GRCh37)
Canonical SPDI:: NC_000012.12:6457727:C:G
Gene:: TAPBPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000684/2 (KOREAN)
HGVS:: NC_000012.12:g.6457728C>G, NC_000012.11:g.6566894C>G, NM_018009.5:c.888C>G, NM_018009.4:c.888C>G, XR_001748777.3:n.1095C>G, XR_001748777.2:n.1065C>G, XR_001748777.1:n.1126C>G, XR_001748778.3:n.1095C>G, XR_001748778.2:n.1065C>G, XR_001748778.1:n.1126C>G, NR_147129.2:n.1095C>G, NR_147129.1:n.1126C>G, NR_147128.2:n.1095C>G, NR_147128.1:n.1126C>G, NR_147127.2:n.970C>G, NR_147127.1:n.1001C>G, NR_147126.2:n.960C>G, NR_147126.1:n.935C>G, NM_001351355.2:c.498C>G, NM_001351355.1:c.498C>G, NP_060479.3:p.Ile296Met, NP_001338284.1:p.Ile166Met

Select item 144680866120.

rs1446808661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6462034 (GRCh38)
12:6571200 (GRCh37)
Canonical SPDI:: NC_000012.12:6462033:C:T
Gene:: VAMP1 (Varview), TAPBPL (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6462034C>T, NC_000012.11:g.6571200C>T, NG_042188.2:g.13866G>A, NM_018009.5:c.1292C>T, NM_018009.4:c.1292C>T, XR_001748777.3:n.1499C>T, XR_001748777.2:n.1469C>T, XR_001748777.1:n.1530C>T, XR_001748778.3:n.1499C>T, XR_001748778.2:n.1469C>T, XR_001748778.1:n.1530C>T, NR_147129.2:n.1766C>T, NR_147129.1:n.1797C>T, NR_147128.2:n.1731C>T, NR_147128.1:n.1762C>T, NR_147127.2:n.1606C>T, NR_147127.1:n.1637C>T, NR_147126.2:n.1596C>T, NR_147126.1:n.1571C>T, NM_001351355.2:c.902C>T, NM_001351355.1:c.902C>T, NP_060479.3:p.Ala431Val, NP_001338284.1:p.Ala301Val

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