Canonical Allele Identifier: CA388026801

Gene: ATP7B

Linked Data

• dbSNP Id: rs1801249
• gnomAD v3: 13-51941218-A-T
• gnomAD v4: 13-51941218-A-T
• MyVariant Identifiers: chr13:g.52515354A>T (hg19) ; chr13:g.51941218A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941218A>T , CM000675.2:g.51941218A>T	GRCh38
NC_000013.10:g.52515354A>T , CM000675.1:g.52515354A>T	GRCh37
NC_000013.9:g.51413355A>T	NCBI36
NG_008806.1:g.75277T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1069T>A	ENSP00000489512.2:n.*1069T>A
ENST00000673864.2:c.*2163T>A	ENSP00000501045.2:n.*2163T>A
ENST00000674147.2:c.2798T>A	ENSP00000500964.2:p.Val933Asp
ENST00000242839.10:c.3419T>A MANE Select	ENSP00000242839.5:p.Val1140Asp
ENST00000344297.9:c.2798T>A	ENSP00000342559.5:p.Val933Asp
ENST00000400366.6:c.3086T>A	ENSP00000383217.3:p.Val1029Asp
ENST00000448424.7:c.3167T>A	ENSP00000416738.3:p.Val1056Asp
ENST00000673772.1:c.3185T>A	ENSP00000501168.1:p.Val1062Asp
ENST00000673867.1:n.3558T>A
ENST00000674126.1:n.3782T>A
ENST00000674147.1:c.2354T>A	ENSP00000500964.1:p.Val785Asp
ENST00000242839.8:c.3419T>A	ENSP00000242839.4:p.Val1140Asp
ENST00000344297.8:c.2798T>A	ENSP00000342559.5:p.Val933Asp
ENST00000400366.5:c.3086T>A	ENSP00000383217.3:p.Val1029Asp
ENST00000400370.8:c.2129T>A	ENSP00000383221.3:p.Val710Asp
ENST00000418097.7:c.3224T>A	ENSP00000393343.2:p.Val1075Asp
ENST00000448424.6:c.3185T>A	ENSP00000416738.2:p.Val1062Asp
ENST00000634296.1:c.1197T>A
ENST00000634308.1:c.*520T>A	ENSP00000489234.1:n.*520T>A
ENST00000634620.1:n.4163T>A
ENST00000634810.1:n.2764T>A
ENST00000634844.1:c.3275T>A	ENSP00000489398.1:p.Val1092Asp
NM_000053.3:c.3419T>A	NP_000044.2:p.Val1140Asp
NM_001005918.2:c.2798T>A	NP_001005918.1:p.Val933Asp
NM_001243182.1:c.3086T>A	NP_001230111.1:p.Val1029Asp
XM_005266423.2:c.3323T>A	XP_005266480.1:p.Val1108Asp
XM_005266424.3:c.3323T>A	XP_005266481.1:p.Val1108Asp
XM_005266427.2:c.3185T>A	XP_005266484.1:p.Val1062Asp
XM_005266428.1:c.3167T>A	XP_005266485.1:p.Val1056Asp
XM_005266430.3:c.3419T>A	XP_005266487.1:p.Val1140Asp
XM_005266431.2:c.3383T>A	XP_005266488.1:p.Val1128Asp
XM_005266432.2:c.2933T>A	XP_005266489.1:p.Val978Asp
XM_006719837.2:c.3323T>A	XP_006719900.1:p.Val1108Asp
XM_006719838.1:c.1235T>A	XP_006719901.1:p.Val412Asp
XM_006719839.1:c.1052T>A	XP_006719902.1:p.Val351Asp
XM_011535117.1:c.3323T>A	XP_011533419.1:p.Val1108Asp
XM_011535118.1:c.3284T>A	XP_011533420.1:p.Val1095Asp
XM_011535119.1:c.3236T>A	XP_011533421.1:p.Val1079Asp
XM_011535120.1:c.3005T>A	XP_011533422.1:p.Val1002Asp
XM_011535121.1:c.2906T>A	XP_011533423.1:p.Val969Asp
XM_011535122.1:c.2087T>A	XP_011533424.1:p.Val696Asp
XR_941601.1:n.3638T>A
XR_941602.1:n.3638T>A
XR_941603.1:n.3638T>A
XR_941604.1:n.3638T>A
NM_001330578.1:c.3185T>A	NP_001317507.1:p.Val1062Asp
NM_001330579.1:c.3167T>A	NP_001317508.1:p.Val1056Asp
XM_005266424.4:c.3323T>A	XP_005266481.1:p.Val1108Asp
XM_005266430.4:c.3419T>A	XP_005266487.1:p.Val1140Asp
XM_005266431.4:c.3383T>A	XP_005266488.1:p.Val1128Asp
XM_006719837.3:c.3323T>A	XP_006719900.1:p.Val1108Asp
XM_011535117.3:c.3323T>A	XP_011533419.1:p.Val1108Asp
XM_017020627.1:c.3323T>A	XP_016876116.1:p.Val1108Asp
NM_000053.4:c.3419T>A MANE Select	NP_000044.2:p.Val1140Asp
NM_001005918.3:c.2798T>A	NP_001005918.1:p.Val933Asp
NM_001330579.2:c.3167T>A	NP_001317508.1:p.Val1056Asp
NM_001243182.2:c.3086T>A	NP_001230111.1:p.Val1029Asp
NM_001330578.2:c.3185T>A	NP_001317507.1:p.Val1062Asp