Canonical Allele Identifier: CA6988686

Gene: ATP7B

Linked Data

• dbSNP Id: rs747255077
• ExAC: 13:52515349 G / A
• gnomAD v2: 13-52515349-G-A
• gnomAD v4: 13-51941213-G-A
• MyVariant Identifiers: chr13:g.52515349G>A (hg19) ; chr13:g.51941213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941213G>A , CM000675.2:g.51941213G>A	GRCh38
NC_000013.10:g.52515349G>A , CM000675.1:g.52515349G>A	GRCh37
NC_000013.9:g.51413350G>A	NCBI36
NG_008806.1:g.75282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1074C>T	ENSP00000489512.2:n.*1074C>T
ENST00000673864.2:c.*2168C>T	ENSP00000501045.2:n.*2168C>T
ENST00000674147.2:c.2803C>T	ENSP00000500964.2:p.Gln935Ter
ENST00000242839.10:c.3424C>T MANE Select	ENSP00000242839.5:p.Gln1142Ter
ENST00000344297.9:c.2803C>T	ENSP00000342559.5:p.Gln935Ter
ENST00000400366.6:c.3091C>T	ENSP00000383217.3:p.Gln1031Ter
ENST00000448424.7:c.3172C>T	ENSP00000416738.3:p.Gln1058Ter
ENST00000673772.1:c.3190C>T	ENSP00000501168.1:p.Gln1064Ter
ENST00000673867.1:n.3563C>T
ENST00000674126.1:n.3787C>T
ENST00000674147.1:c.2359C>T	ENSP00000500964.1:p.Gln787Ter
ENST00000242839.8:c.3424C>T	ENSP00000242839.4:p.Gln1142Ter
ENST00000344297.8:c.2803C>T	ENSP00000342559.5:p.Gln935Ter
ENST00000400366.5:c.3091C>T	ENSP00000383217.3:p.Gln1031Ter
ENST00000400370.8:c.2134C>T	ENSP00000383221.3:p.Gln712Ter
ENST00000418097.7:c.3229C>T	ENSP00000393343.2:p.Gln1077Ter
ENST00000448424.6:c.3190C>T	ENSP00000416738.2:p.Gln1064Ter
ENST00000634296.1:c.1202C>T
ENST00000634308.1:c.*525C>T	ENSP00000489234.1:n.*525C>T
ENST00000634620.1:n.4168C>T
ENST00000634810.1:n.2769C>T
ENST00000634844.1:c.3280C>T	ENSP00000489398.1:p.Gln1094Ter
NM_000053.3:c.3424C>T	NP_000044.2:p.Gln1142Ter
NM_001005918.2:c.2803C>T	NP_001005918.1:p.Gln935Ter
NM_001243182.1:c.3091C>T	NP_001230111.1:p.Gln1031Ter
XM_005266423.2:c.3328C>T	XP_005266480.1:p.Gln1110Ter
XM_005266424.3:c.3328C>T	XP_005266481.1:p.Gln1110Ter
XM_005266427.2:c.3190C>T	XP_005266484.1:p.Gln1064Ter
XM_005266428.1:c.3172C>T	XP_005266485.1:p.Gln1058Ter
XM_005266430.3:c.3424C>T	XP_005266487.1:p.Gln1142Ter
XM_005266431.2:c.3388C>T	XP_005266488.1:p.Gln1130Ter
XM_005266432.2:c.2938C>T	XP_005266489.1:p.Gln980Ter
XM_006719837.2:c.3328C>T	XP_006719900.1:p.Gln1110Ter
XM_006719838.1:c.1240C>T	XP_006719901.1:p.Gln414Ter
XM_006719839.1:c.1057C>T	XP_006719902.1:p.Gln353Ter
XM_011535117.1:c.3328C>T	XP_011533419.1:p.Gln1110Ter
XM_011535118.1:c.3289C>T	XP_011533420.1:p.Gln1097Ter
XM_011535119.1:c.3241C>T	XP_011533421.1:p.Gln1081Ter
XM_011535120.1:c.3010C>T	XP_011533422.1:p.Gln1004Ter
XM_011535121.1:c.2911C>T	XP_011533423.1:p.Gln971Ter
XM_011535122.1:c.2092C>T	XP_011533424.1:p.Gln698Ter
XR_941601.1:n.3643C>T
XR_941602.1:n.3643C>T
XR_941603.1:n.3643C>T
XR_941604.1:n.3643C>T
NM_001330578.1:c.3190C>T	NP_001317507.1:p.Gln1064Ter
NM_001330579.1:c.3172C>T	NP_001317508.1:p.Gln1058Ter
XM_005266424.4:c.3328C>T	XP_005266481.1:p.Gln1110Ter
XM_005266430.4:c.3424C>T	XP_005266487.1:p.Gln1142Ter
XM_005266431.4:c.3388C>T	XP_005266488.1:p.Gln1130Ter
XM_006719837.3:c.3328C>T	XP_006719900.1:p.Gln1110Ter
XM_011535117.3:c.3328C>T	XP_011533419.1:p.Gln1110Ter
XM_017020627.1:c.3328C>T	XP_016876116.1:p.Gln1110Ter
NM_000053.4:c.3424C>T MANE Select	NP_000044.2:p.Gln1142Ter
NM_001005918.3:c.2803C>T	NP_001005918.1:p.Gln935Ter
NM_001330579.2:c.3172C>T	NP_001317508.1:p.Gln1058Ter
NM_001243182.2:c.3091C>T	NP_001230111.1:p.Gln1031Ter
NM_001330578.2:c.3190C>T	NP_001317507.1:p.Gln1064Ter