Canonical Allele Identifier: CA483895026

Gene: ATP7B

Linked Data

• dbSNP Id: rs1182144320
• gnomAD v2: 13-52520597-G-A
• gnomAD v4: 13-51946461-G-A
• MyVariant Identifiers: chr13:g.52520597G>A (hg19) ; chr13:g.51946461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946461G>A , CM000675.2:g.51946461G>A	GRCh38
NC_000013.10:g.52520597G>A , CM000675.1:g.52520597G>A	GRCh37
NC_000013.9:g.51418598G>A	NCBI36
NG_008806.1:g.70034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*716C>T	ENSP00000489512.2:n.*716C>T
ENST00000673864.2:c.*1627C>T	ENSP00000501045.2:n.*1627C>T
ENST00000674147.2:c.2262C>T	ENSP00000500964.2:p.Ile754=
ENST00000242839.10:c.2883C>T MANE Select	ENSP00000242839.5:p.Ile961=
ENST00000344297.9:c.2262C>T	ENSP00000342559.5:p.Ile754=
ENST00000400366.6:c.2550C>T	ENSP00000383217.3:p.Ile850=
ENST00000448424.7:c.2631C>T	ENSP00000416738.3:p.Ile877=
ENST00000673772.1:c.2649C>T	ENSP00000501168.1:p.Ile883=
ENST00000673867.1:n.1030C>T
ENST00000674126.1:n.3246C>T
ENST00000674147.1:c.1818C>T	ENSP00000500964.1:p.Ile606=
ENST00000242839.8:c.2883C>T	ENSP00000242839.4:p.Ile961=
ENST00000344297.8:c.2262C>T	ENSP00000342559.5:p.Ile754=
ENST00000400366.5:c.2550C>T	ENSP00000383217.3:p.Ile850=
ENST00000400370.8:c.1593C>T	ENSP00000383221.3:p.Ile531=
ENST00000418097.7:c.2866-2170C>T	ENSP00000393343.2:n.2866-2170C>T
ENST00000448424.6:c.2649C>T	ENSP00000416738.2:p.Ile883=
ENST00000466629.1:n.103C>T
ENST00000634296.1:c.844C>T
ENST00000634308.1:c.2669C>T	ENSP00000489234.1:p.Ser890Phe
ENST00000634620.1:n.3627C>T
ENST00000634810.1:n.2228C>T
ENST00000634844.1:c.2739C>T	ENSP00000489398.1:p.Ile913=
ENST00000635406.1:n.229C>T
NM_000053.3:c.2883C>T	NP_000044.2:p.Ile961=
NM_001005918.2:c.2262C>T	NP_001005918.1:p.Ile754=
NM_001243182.1:c.2550C>T	NP_001230111.1:p.Ile850=
XM_005266423.2:c.2787C>T	XP_005266480.1:p.Ile929=
XM_005266424.3:c.2787C>T	XP_005266481.1:p.Ile929=
XM_005266427.2:c.2649C>T	XP_005266484.1:p.Ile883=
XM_005266428.1:c.2631C>T	XP_005266485.1:p.Ile877=
XM_005266430.3:c.2883C>T	XP_005266487.1:p.Ile961=
XM_005266431.2:c.2847C>T	XP_005266488.1:p.Ile949=
XM_005266432.2:c.2397C>T	XP_005266489.1:p.Ile799=
XM_006719837.2:c.2787C>T	XP_006719900.1:p.Ile929=
XM_006719838.1:c.699C>T	XP_006719901.1:p.Ile233=
XM_006719839.1:c.699C>T	XP_006719902.1:p.Ile233=
XM_011535117.1:c.2787C>T	XP_011533419.1:p.Ile929=
XM_011535118.1:c.2748C>T	XP_011533420.1:p.Ile916=
XM_011535119.1:c.2883C>T	XP_011533421.1:p.Ile961=
XM_011535120.1:c.2469C>T	XP_011533422.1:p.Ile823=
XM_011535121.1:c.2730+3546C>T	XP_011533423.1:n.2730+3546C>T
XM_011535122.1:c.1551C>T	XP_011533424.1:p.Ile517=
XR_941601.1:n.3102C>T
XR_941602.1:n.3102C>T
XR_941603.1:n.3102C>T
XR_941604.1:n.3102C>T
NM_001330578.1:c.2649C>T	NP_001317507.1:p.Ile883=
NM_001330579.1:c.2631C>T	NP_001317508.1:p.Ile877=
XM_005266424.4:c.2787C>T	XP_005266481.1:p.Ile929=
XM_005266430.4:c.2883C>T	XP_005266487.1:p.Ile961=
XM_005266431.4:c.2847C>T	XP_005266488.1:p.Ile949=
XM_006719837.3:c.2787C>T	XP_006719900.1:p.Ile929=
XM_011535117.3:c.2787C>T	XP_011533419.1:p.Ile929=
XM_017020627.1:c.2787C>T	XP_016876116.1:p.Ile929=
NM_000053.4:c.2883C>T MANE Select	NP_000044.2:p.Ile961=
NM_001005918.3:c.2262C>T	NP_001005918.1:p.Ile754=
NM_001330579.2:c.2631C>T	NP_001317508.1:p.Ile877=
NM_001243182.2:c.2550C>T	NP_001230111.1:p.Ile850=
NM_001330578.2:c.2649C>T	NP_001317507.1:p.Ile883=