Canonical Allele Identifier: CA6988691

Gene: ATP7B

Linked Data

• dbSNP Id: rs199924281
• ExAC: 13:52515357 G / T
• gnomAD v2: 13-52515357-G-T
• gnomAD v4: 13-51941221-G-T
• MyVariant Identifiers: chr13:g.52515357G>T (hg19) ; chr13:g.51941221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941221G>T , CM000675.2:g.51941221G>T	GRCh38
NC_000013.10:g.52515357G>T , CM000675.1:g.52515357G>T	GRCh37
NC_000013.9:g.51413358G>T	NCBI36
NG_008806.1:g.75274C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1066C>A	ENSP00000489512.2:n.*1066C>A
ENST00000673864.2:c.*2160C>A	ENSP00000501045.2:n.*2160C>A
ENST00000674147.2:c.2795C>A	ENSP00000500964.2:p.Ala932Glu
ENST00000242839.10:c.3416C>A MANE Select	ENSP00000242839.5:p.Ala1139Glu
ENST00000344297.9:c.2795C>A	ENSP00000342559.5:p.Ala932Glu
ENST00000400366.6:c.3083C>A	ENSP00000383217.3:p.Ala1028Glu
ENST00000448424.7:c.3164C>A	ENSP00000416738.3:p.Ala1055Glu
ENST00000673772.1:c.3182C>A	ENSP00000501168.1:p.Ala1061Glu
ENST00000673867.1:n.3555C>A
ENST00000674126.1:n.3779C>A
ENST00000674147.1:c.2351C>A	ENSP00000500964.1:p.Ala784Glu
ENST00000242839.8:c.3416C>A	ENSP00000242839.4:p.Ala1139Glu
ENST00000344297.8:c.2795C>A	ENSP00000342559.5:p.Ala932Glu
ENST00000400366.5:c.3083C>A	ENSP00000383217.3:p.Ala1028Glu
ENST00000400370.8:c.2126C>A	ENSP00000383221.3:p.Ala709Glu
ENST00000418097.7:c.3221C>A	ENSP00000393343.2:p.Ala1074Glu
ENST00000448424.6:c.3182C>A	ENSP00000416738.2:p.Ala1061Glu
ENST00000634296.1:c.1194C>A
ENST00000634308.1:c.*517C>A	ENSP00000489234.1:n.*517C>A
ENST00000634620.1:n.4160C>A
ENST00000634810.1:n.2761C>A
ENST00000634844.1:c.3272C>A	ENSP00000489398.1:p.Ala1091Glu
NM_000053.3:c.3416C>A	NP_000044.2:p.Ala1139Glu
NM_001005918.2:c.2795C>A	NP_001005918.1:p.Ala932Glu
NM_001243182.1:c.3083C>A	NP_001230111.1:p.Ala1028Glu
XM_005266423.2:c.3320C>A	XP_005266480.1:p.Ala1107Glu
XM_005266424.3:c.3320C>A	XP_005266481.1:p.Ala1107Glu
XM_005266427.2:c.3182C>A	XP_005266484.1:p.Ala1061Glu
XM_005266428.1:c.3164C>A	XP_005266485.1:p.Ala1055Glu
XM_005266430.3:c.3416C>A	XP_005266487.1:p.Ala1139Glu
XM_005266431.2:c.3380C>A	XP_005266488.1:p.Ala1127Glu
XM_005266432.2:c.2930C>A	XP_005266489.1:p.Ala977Glu
XM_006719837.2:c.3320C>A	XP_006719900.1:p.Ala1107Glu
XM_006719838.1:c.1232C>A	XP_006719901.1:p.Ala411Glu
XM_006719839.1:c.1049C>A	XP_006719902.1:p.Ala350Glu
XM_011535117.1:c.3320C>A	XP_011533419.1:p.Ala1107Glu
XM_011535118.1:c.3281C>A	XP_011533420.1:p.Ala1094Glu
XM_011535119.1:c.3233C>A	XP_011533421.1:p.Ala1078Glu
XM_011535120.1:c.3002C>A	XP_011533422.1:p.Ala1001Glu
XM_011535121.1:c.2903C>A	XP_011533423.1:p.Ala968Glu
XM_011535122.1:c.2084C>A	XP_011533424.1:p.Ala695Glu
XR_941601.1:n.3635C>A
XR_941602.1:n.3635C>A
XR_941603.1:n.3635C>A
XR_941604.1:n.3635C>A
NM_001330578.1:c.3182C>A	NP_001317507.1:p.Ala1061Glu
NM_001330579.1:c.3164C>A	NP_001317508.1:p.Ala1055Glu
XM_005266424.4:c.3320C>A	XP_005266481.1:p.Ala1107Glu
XM_005266430.4:c.3416C>A	XP_005266487.1:p.Ala1139Glu
XM_005266431.4:c.3380C>A	XP_005266488.1:p.Ala1127Glu
XM_006719837.3:c.3320C>A	XP_006719900.1:p.Ala1107Glu
XM_011535117.3:c.3320C>A	XP_011533419.1:p.Ala1107Glu
XM_017020627.1:c.3320C>A	XP_016876116.1:p.Ala1107Glu
NM_000053.4:c.3416C>A MANE Select	NP_000044.2:p.Ala1139Glu
NM_001005918.3:c.2795C>A	NP_001005918.1:p.Ala932Glu
NM_001330579.2:c.3164C>A	NP_001317508.1:p.Ala1055Glu
NM_001243182.2:c.3083C>A	NP_001230111.1:p.Ala1028Glu
NM_001330578.2:c.3182C>A	NP_001317507.1:p.Ala1061Glu