SNP Links for Protein (Select 38176287) - SNP

Links from Protein

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Select item 14908457981.

rs1490845798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:24849931 (GRCh38)
12:25002865 (GRCh37)
Canonical SPDI:: NC_000012.12:24849930:T:C
Gene:: BCAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.24849931T>C, NC_000012.11:g.25002865T>C, NG_008170.2:g.104444A>G, NM_005504.7:c.529A>G, NM_005504.6:c.529A>G, NM_001178094.2:c.526A>G, NM_001178094.1:c.526A>G, NM_001178093.2:c.565A>G, NM_001178093.1:c.565A>G, NM_001178091.2:c.418A>G, NM_001178091.1:c.418A>G, NM_001178092.2:c.346A>G, NM_001178092.1:c.346A>G, XM_017019768.3:c.454A>G, XM_017019768.2:c.631A>G, XM_017019768.1:c.631A>G, XR_001748835.3:n.644A>G, XR_001748835.2:n.3581A>G, XR_001748835.1:n.767A>G, XM_047429279.1:c.526A>G, XM_047429280.1:c.415A>G, XR_007063109.1:n.783A>G, XR_007063108.1:n.698A>G, XR_007063110.1:n.587A>G, XM_047429278.1:c.529A>G, XM_047429277.1:c.565A>G, NP_005495.2:p.Lys177Glu, NP_001171565.1:p.Lys176Glu, NP_001171564.1:p.Lys189Glu, NP_001171562.1:p.Lys140Glu, NP_001171563.1:p.Lys116Glu, XP_016875257.2:p.Lys152Glu, XP_047285235.1:p.Lys176Glu, XP_047285236.1:p.Lys139Glu, XP_047285234.1:p.Lys177Glu, XP_047285233.1:p.Lys189Glu

Select item 14880137232.

rs1488013723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:24894376 (GRCh38)
12:25047310 (GRCh37)
Canonical SPDI:: NC_000012.12:24894375:C:T
Gene:: BCAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.24894376C>T, NC_000012.11:g.25047310C>T, NG_008170.2:g.59999G>A, NM_005504.7:c.178G>A, NM_005504.6:c.178G>A, NM_001178094.2:c.175G>A, NM_001178094.1:c.175G>A, NM_001178093.2:c.214G>A, NM_001178093.1:c.214G>A, NM_001178091.2:c.178G>A, NM_001178091.1:c.178G>A, NM_001178092.2:c.106G>A, NM_001178092.1:c.106G>A, XM_017019768.3:c.214G>A, XM_017019768.2:c.391G>A, XM_017019768.1:c.391G>A, XR_001748835.3:n.293G>A, XR_001748835.2:n.3230G>A, XR_001748835.1:n.416G>A, XM_047429279.1:c.175G>A, XM_047429280.1:c.175G>A, XR_007063109.1:n.432G>A, XR_007063108.1:n.347G>A, XR_007063110.1:n.347G>A, XM_047429278.1:c.178G>A, XM_047429277.1:c.214G>A, NP_005495.2:p.Val60Met, NP_001171565.1:p.Val59Met, NP_001171564.1:p.Val72Met, NP_001171562.1:p.Val60Met, NP_001171563.1:p.Val36Met, XP_016875257.2:p.Val72Met, XP_047285235.1:p.Val59Met, XP_047285236.1:p.Val59Met, XP_047285234.1:p.Val60Met, XP_047285233.1:p.Val72Met

Select item 14818503093.

rs1481850309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:24881394 (GRCh38)
12:25034328 (GRCh37)
Canonical SPDI:: NC_000012.12:24881393:C:G,NC_000012.12:24881393:C:T
Gene:: BCAT1 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.24881394C>G, NC_000012.12:g.24881394C>T, NC_000012.11:g.25034328C>G, NC_000012.11:g.25034328C>T, NG_008170.2:g.72981G>C, NG_008170.2:g.72981G>A, NM_005504.7:c.297G>C, NM_005504.7:c.297G>A, NM_005504.6:c.297G>C, NM_005504.6:c.297G>A, NM_001178094.2:c.294G>C, NM_001178094.2:c.294G>A, NM_001178094.1:c.294G>C, NM_001178094.1:c.294G>A, NM_001178093.2:c.333G>C, NM_001178093.2:c.333G>A, NM_001178093.1:c.333G>C, NM_001178093.1:c.333G>A, XR_001748835.3:n.412G>C, XR_001748835.3:n.412G>A, XR_001748835.2:n.3349G>C, XR_001748835.2:n.3349G>A, XR_001748835.1:n.535G>C, XR_001748835.1:n.535G>A, XM_047429279.1:c.294G>C, XM_047429279.1:c.294G>A, XR_007063109.1:n.551G>C, XR_007063109.1:n.551G>A, XR_007063108.1:n.466G>C, XR_007063108.1:n.466G>A, XM_047429278.1:c.297G>C, XM_047429278.1:c.297G>A, XM_047429277.1:c.333G>C, XM_047429277.1:c.333G>A, NP_005495.2:p.Lys99Asn, NP_001171565.1:p.Lys98Asn, NP_001171564.1:p.Lys111Asn, XP_047285235.1:p.Lys98Asn, XP_047285234.1:p.Lys99Asn, XP_047285233.1:p.Lys111Asn

Select item 14815463254.

rs1481546325 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:24849862 (GRCh38)
12:25002797 (GRCh37)
Canonical SPDI:: NC_000012.12:24849862:AAA:AAAA
Gene:: BCAT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.24849865dup, NC_000012.11:g.25002799dup, NG_008170.2:g.104512dup, NM_005504.7:c.597dup, NM_005504.6:c.597dup, NM_001178094.2:c.594dup, NM_001178094.1:c.594dup, NM_001178093.2:c.633dup, NM_001178093.1:c.633dup, NM_001178091.2:c.486dup, NM_001178091.1:c.486dup, NM_001178092.2:c.414dup, NM_001178092.1:c.414dup, XM_017019768.3:c.522dup, XM_017019768.2:c.699dup, XM_017019768.1:c.699dup, XR_001748835.3:n.712dup, XR_001748835.2:n.3649dup, XR_001748835.1:n.835dup, XM_047429279.1:c.594dup, XM_047429280.1:c.483dup, XR_007063109.1:n.851dup, XR_007063108.1:n.766dup, XR_007063110.1:n.655dup, XM_047429278.1:c.597dup, XM_047429277.1:c.633dup, NP_005495.2:p.Asn200Ter, NP_001171565.1:p.Asn199Ter, NP_001171564.1:p.Asn212Ter, NP_001171562.1:p.Asn163Ter, NP_001171563.1:p.Asn139Ter, XP_016875257.2:p.Asn175Ter, XP_047285235.1:p.Asn199Ter, XP_047285236.1:p.Asn162Ter, XP_047285234.1:p.Asn200Ter, XP_047285233.1:p.Asn212Ter

Select item 14786554615.

rs1478655461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:24901824 (GRCh38)
12:25054758 (GRCh37)
Canonical SPDI:: NC_000012.12:24901823:C:A,NC_000012.12:24901823:C:T
Gene:: BCAT1 (Varview), LOC124902898 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.24901824C>A, NC_000012.12:g.24901824C>T, NC_000012.11:g.25054758C>A, NC_000012.11:g.25054758C>T, NG_008170.2:g.52551G>T, NG_008170.2:g.52551G>A, NM_005504.7:c.68G>T, NM_005504.7:c.68G>A, NM_005504.6:c.68G>T, NM_005504.6:c.68G>A, NM_001178094.2:c.65G>T, NM_001178094.2:c.65G>A, NM_001178094.1:c.65G>T, NM_001178094.1:c.65G>A, NM_001178093.2:c.104G>T, NM_001178093.2:c.104G>A, NM_001178093.1:c.104G>T, NM_001178093.1:c.104G>A, NM_001178091.2:c.68G>T, NM_001178091.2:c.68G>A, NM_001178091.1:c.68G>T, NM_001178091.1:c.68G>A, XM_017019768.3:c.104G>T, XM_017019768.3:c.104G>A, XM_017019768.2:c.281G>T, XM_017019768.2:c.281G>A, XM_017019768.1:c.281G>T, XM_017019768.1:c.281G>A, XR_001748835.3:n.183G>T, XR_001748835.3:n.183G>A, XR_001748835.2:n.3120G>T, XR_001748835.2:n.3120G>A, XR_001748835.1:n.306G>T, XR_001748835.1:n.306G>A, XM_047429279.1:c.65G>T, XM_047429279.1:c.65G>A, XM_047429280.1:c.65G>T, XM_047429280.1:c.65G>A, XR_007063109.1:n.322G>T, XR_007063109.1:n.322G>A, XR_007063108.1:n.237G>T, XR_007063108.1:n.237G>A, XR_007063110.1:n.237G>T, XR_007063110.1:n.237G>A, XM_047429278.1:c.68G>T, XM_047429278.1:c.68G>A, XM_047429277.1:c.104G>T, XM_047429277.1:c.104G>A, NP_005495.2:p.Gly23Val, NP_005495.2:p.Gly23Glu, NP_001171565.1:p.Gly22Val, NP_001171565.1:p.Gly22Glu, NP_001171564.1:p.Gly35Val, NP_001171564.1:p.Gly35Glu, NP_001171562.1:p.Gly23Val, NP_001171562.1:p.Gly23Glu, XP_016875257.2:p.Gly35Val, XP_016875257.2:p.Gly35Glu, XP_047285235.1:p.Gly22Val, XP_047285235.1:p.Gly22Glu, XP_047285236.1:p.Gly22Val, XP_047285236.1:p.Gly22Glu, XP_047285234.1:p.Gly23Val, XP_047285234.1:p.Gly23Glu, XP_047285233.1:p.Gly35Val, XP_047285233.1:p.Gly35Glu

Select item 14767491966.

rs1476749196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:24894289 (GRCh38)
12:25047223 (GRCh37)
Canonical SPDI:: NC_000012.12:24894288:G:A
Gene:: BCAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000012.12:g.24894289G>A, NC_000012.11:g.25047223G>A, NG_008170.2:g.60086C>T, NM_005504.7:c.265C>T, NM_005504.6:c.265C>T, NM_001178094.2:c.262C>T, NM_001178094.1:c.262C>T, NM_001178093.2:c.301C>T, NM_001178093.1:c.301C>T, NM_001178091.2:c.265C>T, NM_001178091.1:c.265C>T, NM_001178092.2:c.193C>T, NM_001178092.1:c.193C>T, XM_017019768.3:c.301C>T, XM_017019768.2:c.478C>T, XM_017019768.1:c.478C>T, XR_001748835.3:n.380C>T, XR_001748835.2:n.3317C>T, XR_001748835.1:n.503C>T, XM_047429279.1:c.262C>T, XM_047429280.1:c.262C>T, XR_007063109.1:n.519C>T, XR_007063108.1:n.434C>T, XR_007063110.1:n.434C>T, XM_047429278.1:c.265C>T, XM_047429277.1:c.301C>T, NP_005495.2:p.His89Tyr, NP_001171565.1:p.His88Tyr, NP_001171564.1:p.His101Tyr, NP_001171562.1:p.His89Tyr, NP_001171563.1:p.His65Tyr, XP_016875257.2:p.His101Tyr, XP_047285235.1:p.His88Tyr, XP_047285236.1:p.His88Tyr, XP_047285234.1:p.His89Tyr, XP_047285233.1:p.His101Tyr

Select item 14760271587.

rs1476027158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:24832815 (GRCh38)
12:24985749 (GRCh37)
Canonical SPDI:: NC_000012.12:24832814:T:C
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_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=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.24832815T>C, NC_000012.11:g.24985749T>C, NG_008170.2:g.121560A>G, NM_005504.7:c.952A>G, NM_005504.6:c.952A>G, NM_001178094.2:c.949A>G, NM_001178094.1:c.949A>G, NM_001178093.2:c.988A>G, NM_001178093.1:c.988A>G, NM_001178091.2:c.841A>G, NM_001178091.1:c.841A>G, NM_001178092.2:c.769A>G, NM_001178092.1:c.769A>G, XM_017019768.3:c.877A>G, XM_017019768.2:c.1054A>G, XM_017019768.1:c.1054A>G, XR_001748835.3:n.1067A>G, XR_001748835.2:n.4004A>G, XR_001748835.1:n.1190A>G, XM_047429279.1:c.949A>G, XM_047429280.1:c.838A>G, XR_007063109.1:n.1206A>G, XR_007063108.1:n.1121A>G, XR_007063110.1:n.1010A>G, XM_047429278.1:c.952A>G, XM_047429277.1:c.988A>G, NP_005495.2:p.Thr318Ala, NP_001171565.1:p.Thr317Ala, NP_001171564.1:p.Thr330Ala, NP_001171562.1:p.Thr281Ala, NP_001171563.1:p.Thr257Ala, XP_016875257.2:p.Thr293Ala, XP_047285235.1:p.Thr317Ala, XP_047285236.1:p.Thr280Ala, XP_047285234.1:p.Thr318Ala, XP_047285233.1:p.Thr330Ala

Select item 14747668188.

rs1474766818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:24836573 (GRCh38)
12:24989507 (GRCh37)
Canonical SPDI:: NC_000012.12:24836572:G:A
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.24836573G>A, NC_000012.11:g.24989507G>A, NG_008170.2:g.117802C>T, NM_005504.7:c.841C>T, NM_005504.6:c.841C>T, NM_001178094.2:c.838C>T, NM_001178094.1:c.838C>T, NM_001178093.2:c.877C>T, NM_001178093.1:c.877C>T, NM_001178091.2:c.730C>T, NM_001178091.1:c.730C>T, NM_001178092.2:c.658C>T, NM_001178092.1:c.658C>T, XM_017019768.3:c.766C>T, XM_017019768.2:c.943C>T, XM_017019768.1:c.943C>T, XR_001748835.3:n.956C>T, XR_001748835.2:n.3893C>T, XR_001748835.1:n.1079C>T, XM_047429279.1:c.838C>T, XM_047429280.1:c.727C>T, XR_007063109.1:n.1095C>T, XR_007063108.1:n.1010C>T, XR_007063110.1:n.899C>T, XM_047429278.1:c.841C>T, XM_047429277.1:c.877C>T

Select item 14733671869.

rs1473367186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:24829873 (GRCh38)
12:24982807 (GRCh37)
Canonical SPDI:: NC_000012.12:24829872:T:C
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.24829873T>C, NC_000012.11:g.24982807T>C, NG_008170.2:g.124502A>G, NM_005504.7:c.1069A>G, NM_005504.6:c.1069A>G, NM_001178094.2:c.1066A>G, NM_001178094.1:c.1066A>G, NM_001178093.2:c.1105A>G, NM_001178093.1:c.1105A>G, NM_001178091.2:c.958A>G, NM_001178091.1:c.958A>G, NM_001178092.2:c.886A>G, NM_001178092.1:c.886A>G, XM_017019768.3:c.994A>G, XM_017019768.2:c.1171A>G, XM_017019768.1:c.1171A>G, XR_001748835.3:n.1184A>G, XR_001748835.2:n.4121A>G, XR_001748835.1:n.1307A>G, XM_047429279.1:c.1066A>G, XM_047429280.1:c.955A>G, XR_007063109.1:n.1323A>G, XR_007063108.1:n.1238A>G, XR_007063110.1:n.1127A>G, XM_047429278.1:c.1069A>G, XM_047429277.1:c.1105A>G, NP_005495.2:p.Asn357Asp, NP_001171565.1:p.Asn356Asp, NP_001171564.1:p.Asn369Asp, NP_001171562.1:p.Asn320Asp, NP_001171563.1:p.Asn296Asp, XP_016875257.2:p.Asn332Asp, XP_047285235.1:p.Asn356Asp, XP_047285236.1:p.Asn319Asp, XP_047285234.1:p.Asn357Asp, XP_047285233.1:p.Asn369Asp

Select item 147226179810.

rs1472261798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:24901838 (GRCh38)
12:25054772 (GRCh37)
Canonical SPDI:: NC_000012.12:24901837:T:A
Gene:: BCAT1 (Varview), LOC124902898 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_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.24901838T>A, NC_000012.11:g.25054772T>A, NG_008170.2:g.52537A>T, NM_005504.7:c.54A>T, NM_005504.6:c.54A>T, NM_001178094.2:c.51A>T, NM_001178094.1:c.51A>T, NM_001178093.2:c.90A>T, NM_001178093.1:c.90A>T, NM_001178091.2:c.54A>T, NM_001178091.1:c.54A>T, XM_017019768.3:c.90A>T, XM_017019768.2:c.267A>T, XM_017019768.1:c.267A>T, XR_001748835.3:n.169A>T, XR_001748835.2:n.3106A>T, XR_001748835.1:n.292A>T, XM_047429279.1:c.51A>T, XM_047429280.1:c.51A>T, XR_007063109.1:n.308A>T, XR_007063108.1:n.223A>T, XR_007063110.1:n.223A>T, XM_047429278.1:c.54A>T, XM_047429277.1:c.90A>T

Select item 147149858311.

rs1471498583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:24878583 (GRCh38)
12:25031517 (GRCh37)
Canonical SPDI:: NC_000012.12:24878582:G:A
Gene:: BCAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.24878583G>A, NC_000012.11:g.25031517G>A, NG_008170.2:g.75792C>T, NM_005504.7:c.457C>T, NM_005504.6:c.457C>T, NM_001178094.2:c.454C>T, NM_001178094.1:c.454C>T, NM_001178093.2:c.493C>T, NM_001178093.1:c.493C>T, NM_001178091.2:c.346C>T, NM_001178091.1:c.346C>T, NM_001178092.2:c.274C>T, NM_001178092.1:c.274C>T, XM_017019768.3:c.382C>T, XM_017019768.2:c.559C>T, XM_017019768.1:c.559C>T, XR_001748835.3:n.572C>T, XR_001748835.2:n.3509C>T, XR_001748835.1:n.695C>T, XM_047429279.1:c.454C>T, XM_047429280.1:c.343C>T, XR_007063109.1:n.711C>T, XR_007063108.1:n.626C>T, XR_007063110.1:n.515C>T, XM_047429278.1:c.457C>T, XM_047429277.1:c.493C>T, NP_005495.2:p.Pro153Ser, NP_001171565.1:p.Pro152Ser, NP_001171564.1:p.Pro165Ser, NP_001171562.1:p.Pro116Ser, NP_001171563.1:p.Pro92Ser, XP_016875257.2:p.Pro128Ser, XP_047285235.1:p.Pro152Ser, XP_047285236.1:p.Pro115Ser, XP_047285234.1:p.Pro153Ser, XP_047285233.1:p.Pro165Ser

Select item 146780856612.

rs1467808566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:24836558 (GRCh38)
12:24989492 (GRCh37)
Canonical SPDI:: NC_000012.12:24836557:G:A
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.24836558G>A, NC_000012.11:g.24989492G>A, NG_008170.2:g.117817C>T, NM_005504.7:c.856C>T, NM_005504.6:c.856C>T, NM_001178094.2:c.853C>T, NM_001178094.1:c.853C>T, NM_001178093.2:c.892C>T, NM_001178093.1:c.892C>T, NM_001178091.2:c.745C>T, NM_001178091.1:c.745C>T, NM_001178092.2:c.673C>T, NM_001178092.1:c.673C>T, XM_017019768.3:c.781C>T, XM_017019768.2:c.958C>T, XM_017019768.1:c.958C>T, XR_001748835.3:n.971C>T, XR_001748835.2:n.3908C>T, XR_001748835.1:n.1094C>T, XM_047429279.1:c.853C>T, XM_047429280.1:c.742C>T, XR_007063109.1:n.1110C>T, XR_007063108.1:n.1025C>T, XR_007063110.1:n.914C>T, XM_047429278.1:c.856C>T, XM_047429277.1:c.892C>T, NP_005495.2:p.Leu286Phe, NP_001171565.1:p.Leu285Phe, NP_001171564.1:p.Leu298Phe, NP_001171562.1:p.Leu249Phe, NP_001171563.1:p.Leu225Phe, XP_016875257.2:p.Leu261Phe, XP_047285235.1:p.Leu285Phe, XP_047285236.1:p.Leu248Phe, XP_047285234.1:p.Leu286Phe, XP_047285233.1:p.Leu298Phe

Select item 146778277913.

rs1467782779 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 12:24832760 (GRCh38)
12:24985694 (GRCh37)
Canonical SPDI:: NC_000012.12:24832755:AACAACA:AACA
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.24832757ACA[1], NC_000012.11:g.24985691ACA[1], NG_008170.2:g.121614GTT[1], NM_005504.7:c.1006GTT[1], NM_005504.6:c.1006GTT[1], NM_001178094.2:c.1003GTT[1], NM_001178094.1:c.1003GTT[1], NM_001178093.2:c.1042GTT[1], NM_001178093.1:c.1042GTT[1], NM_001178091.2:c.895GTT[1], NM_001178091.1:c.895GTT[1], NM_001178092.2:c.823GTT[1], NM_001178092.1:c.823GTT[1], XM_017019768.3:c.931GTT[1], XM_017019768.2:c.1108GTT[1], XM_017019768.1:c.1108GTT[1], XR_001748835.3:n.1121GTT[1], XR_001748835.2:n.4058GTT[1], XR_001748835.1:n.1244GTT[1], XM_047429279.1:c.1003GTT[1], XM_047429280.1:c.892GTT[1], XR_007063109.1:n.1260GTT[1], XR_007063108.1:n.1175GTT[1], XR_007063110.1:n.1064GTT[1], XM_047429278.1:c.1006GTT[1], XM_047429277.1:c.1042GTT[1], NP_005495.2:p.Val337del, NP_001171565.1:p.Val336del, NP_001171564.1:p.Val349del, NP_001171562.1:p.Val300del, NP_001171563.1:p.Val276del, XP_016875257.2:p.Val312del, XP_047285235.1:p.Val336del, XP_047285236.1:p.Val299del, XP_047285234.1:p.Val337del, XP_047285233.1:p.Val349del

Select item 146548423214.

rs1465484232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:24878593 (GRCh38)
12:25031527 (GRCh37)
Canonical SPDI:: NC_000012.12:24878592:T:C
Gene:: BCAT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.24878593T>C, NC_000012.11:g.25031527T>C, NG_008170.2:g.75782A>G, NM_005504.7:c.447A>G, NM_005504.6:c.447A>G, NM_001178094.2:c.444A>G, NM_001178094.1:c.444A>G, NM_001178093.2:c.483A>G, NM_001178093.1:c.483A>G, NM_001178091.2:c.336A>G, NM_001178091.1:c.336A>G, NM_001178092.2:c.264A>G, NM_001178092.1:c.264A>G, XM_017019768.3:c.372A>G, XM_017019768.2:c.549A>G, XM_017019768.1:c.549A>G, XR_001748835.3:n.562A>G, XR_001748835.2:n.3499A>G, XR_001748835.1:n.685A>G, XM_047429279.1:c.444A>G, XM_047429280.1:c.333A>G, XR_007063109.1:n.701A>G, XR_007063108.1:n.616A>G, XR_007063110.1:n.505A>G, XM_047429278.1:c.447A>G, XM_047429277.1:c.483A>G

Select item 146053390015.

rs1460533900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:24842155 (GRCh38)
12:24995089 (GRCh37)
Canonical SPDI:: NC_000012.12:24842154:G:C
Gene:: BCAT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.24842155G>C, NC_000012.11:g.24995089G>C, NG_008170.2:g.112220C>G, NM_005504.7:c.744C>G, NM_005504.6:c.744C>G, NM_001178094.2:c.741C>G, NM_001178094.1:c.741C>G, NM_001178093.2:c.780C>G, NM_001178093.1:c.780C>G, NM_001178091.2:c.633C>G, NM_001178091.1:c.633C>G, NM_001178092.2:c.561C>G, NM_001178092.1:c.561C>G, XM_017019768.3:c.669C>G, XM_017019768.2:c.846C>G, XM_017019768.1:c.846C>G, XR_001748835.3:n.859C>G, XR_001748835.2:n.3796C>G, XR_001748835.1:n.982C>G, XM_047429279.1:c.741C>G, XM_047429280.1:c.630C>G, XR_007063109.1:n.998C>G, XR_007063108.1:n.913C>G, XR_007063110.1:n.802C>G, XM_047429278.1:c.744C>G, XM_047429277.1:c.780C>G

Select item 145760421216.

rs1457604212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:24881354 (GRCh38)
12:25034288 (GRCh37)
Canonical SPDI:: NC_000012.12:24881353:G:T
Gene:: BCAT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.24881354G>T, NC_000012.11:g.25034288G>T, NG_008170.2:g.73021C>A, NM_005504.7:c.337C>A, NM_005504.6:c.337C>A, NM_001178094.2:c.334C>A, NM_001178094.1:c.334C>A, NM_001178093.2:c.373C>A, NM_001178093.1:c.373C>A, XR_001748835.3:n.452C>A, XR_001748835.2:n.3389C>A, XR_001748835.1:n.575C>A, XM_047429279.1:c.334C>A, XR_007063109.1:n.591C>A, XR_007063108.1:n.506C>A, XM_047429278.1:c.337C>A, XM_047429277.1:c.373C>A, NP_005495.2:p.Pro113Thr, NP_001171565.1:p.Pro112Thr, NP_001171564.1:p.Pro125Thr, XP_047285235.1:p.Pro112Thr, XP_047285234.1:p.Pro113Thr, XP_047285233.1:p.Pro125Thr

Select item 145682600017.

rs1456826000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:24881399 (GRCh38)
12:25034333 (GRCh37)
Canonical SPDI:: NC_000012.12:24881398:A:G,NC_000012.12:24881398:A:T
Gene:: BCAT1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.24881399A>G, NC_000012.12:g.24881399A>T, NC_000012.11:g.25034333A>G, NC_000012.11:g.25034333A>T, NG_008170.2:g.72976T>C, NG_008170.2:g.72976T>A, NM_005504.7:c.292T>C, NM_005504.7:c.292T>A, NM_005504.6:c.292T>C, NM_005504.6:c.292T>A, NM_001178094.2:c.289T>C, NM_001178094.2:c.289T>A, NM_001178094.1:c.289T>C, NM_001178094.1:c.289T>A, NM_001178093.2:c.328T>C, NM_001178093.2:c.328T>A, NM_001178093.1:c.328T>C, NM_001178093.1:c.328T>A, XR_001748835.3:n.407T>C, XR_001748835.3:n.407T>A, XR_001748835.2:n.3344T>C, XR_001748835.2:n.3344T>A, XR_001748835.1:n.530T>C, XR_001748835.1:n.530T>A, XM_047429279.1:c.289T>C, XM_047429279.1:c.289T>A, XR_007063109.1:n.546T>C, XR_007063109.1:n.546T>A, XR_007063108.1:n.461T>C, XR_007063108.1:n.461T>A, XM_047429278.1:c.292T>C, XM_047429278.1:c.292T>A, XM_047429277.1:c.328T>C, XM_047429277.1:c.328T>A, NP_005495.2:p.Leu98Met, NP_001171565.1:p.Leu97Met, NP_001171564.1:p.Leu110Met, XP_047285235.1:p.Leu97Met, XP_047285234.1:p.Leu98Met, XP_047285233.1:p.Leu110Met

Select item 145405974718.

rs1454059747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:24818027 (GRCh38)
12:24970961 (GRCh37)
Canonical SPDI:: NC_000012.12:24818026:C:T
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.24818027C>T, NC_000012.11:g.24970961C>T, NG_008170.2:g.136348G>A, NM_005504.7:c.1142G>A, NM_005504.6:c.1142G>A, NM_001178094.2:c.1139G>A, NM_001178094.1:c.1139G>A, NM_001178093.2:c.1178G>A, NM_001178093.1:c.1178G>A, NM_001178091.2:c.1031G>A, NM_001178091.1:c.1031G>A, NM_001178092.2:c.959G>A, NM_001178092.1:c.959G>A, XM_017019768.3:c.1067G>A, XM_017019768.2:c.1244G>A, XM_017019768.1:c.1244G>A, XR_001748835.3:n.1257G>A, XR_001748835.2:n.4194G>A, XR_001748835.1:n.1380G>A, XM_047429279.1:c.1139G>A, XM_047429280.1:c.1028G>A, XR_007063109.1:n.1396G>A, XR_007063108.1:n.1311G>A, XR_007063110.1:n.1200G>A, XM_047429278.1:c.1142G>A, XM_047429277.1:c.1178G>A, NP_005495.2:p.Trp381Ter, NP_001171565.1:p.Trp380Ter, NP_001171564.1:p.Trp393Ter, NP_001171562.1:p.Trp344Ter, NP_001171563.1:p.Trp320Ter, XP_016875257.2:p.Trp356Ter, XP_047285235.1:p.Trp380Ter, XP_047285236.1:p.Trp343Ter, XP_047285234.1:p.Trp381Ter, XP_047285233.1:p.Trp393Ter

Select item 145378019919.

rs1453780199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:24836525 (GRCh38)
12:24989459 (GRCh37)
Canonical SPDI:: NC_000012.12:24836524:G:C
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.24836525G>C, NC_000012.11:g.24989459G>C, NG_008170.2:g.117850C>G, NM_005504.7:c.889C>G, NM_005504.6:c.889C>G, NM_001178094.2:c.886C>G, NM_001178094.1:c.886C>G, NM_001178093.2:c.925C>G, NM_001178093.1:c.925C>G, NM_001178091.2:c.778C>G, NM_001178091.1:c.778C>G, NM_001178092.2:c.706C>G, NM_001178092.1:c.706C>G, XM_017019768.3:c.814C>G, XM_017019768.2:c.991C>G, XM_017019768.1:c.991C>G, XR_001748835.3:n.1004C>G, XR_001748835.2:n.3941C>G, XR_001748835.1:n.1127C>G, XM_047429279.1:c.886C>G, XM_047429280.1:c.775C>G, XR_007063109.1:n.1143C>G, XR_007063108.1:n.1058C>G, XR_007063110.1:n.947C>G, XM_047429278.1:c.889C>G, XM_047429277.1:c.925C>G, XR_007063243.1:n.481G>C, XR_007063245.1:n.388G>C, NP_005495.2:p.Leu297Val, NP_001171565.1:p.Leu296Val, NP_001171564.1:p.Leu309Val, NP_001171562.1:p.Leu260Val, NP_001171563.1:p.Leu236Val, XP_016875257.2:p.Leu272Val, XP_047285235.1:p.Leu296Val, XP_047285236.1:p.Leu259Val, XP_047285234.1:p.Leu297Val, XP_047285233.1:p.Leu309Val

Select item 144788677620.

rs1447886776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:24832860 (GRCh38)
12:24985794 (GRCh37)
Canonical SPDI:: NC_000012.12:24832859:C:T
Gene:: BCAT1 (Varview), LOC105369699 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000045/12 (TOPMED)
HGVS:: NC_000012.12:g.24832860C>T, NC_000012.11:g.24985794C>T, NG_008170.2:g.121515G>A, NM_005504.7:c.907G>A, NM_005504.6:c.907G>A, NM_001178094.2:c.904G>A, NM_001178094.1:c.904G>A, NM_001178093.2:c.943G>A, NM_001178093.1:c.943G>A, NM_001178091.2:c.796G>A, NM_001178091.1:c.796G>A, NM_001178092.2:c.724G>A, NM_001178092.1:c.724G>A, XM_017019768.3:c.832G>A, XM_017019768.2:c.1009G>A, XM_017019768.1:c.1009G>A, XR_001748835.3:n.1022G>A, XR_001748835.2:n.3959G>A, XR_001748835.1:n.1145G>A, XM_047429279.1:c.904G>A, XM_047429280.1:c.793G>A, XR_007063109.1:n.1161G>A, XR_007063108.1:n.1076G>A, XR_007063110.1:n.965G>A, XM_047429278.1:c.907G>A, XM_047429277.1:c.943G>A, NP_005495.2:p.Glu303Lys, NP_001171565.1:p.Glu302Lys, NP_001171564.1:p.Glu315Lys, NP_001171562.1:p.Glu266Lys, NP_001171563.1:p.Glu242Lys, XP_016875257.2:p.Glu278Lys, XP_047285235.1:p.Glu302Lys, XP_047285236.1:p.Glu265Lys, XP_047285234.1:p.Glu303Lys, XP_047285233.1:p.Glu315Lys

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