Canonical Allele Identifier: CA388026065

Gene: ATP7B

Linked Data

• dbSNP Id: rs1318758433
• gnomAD v2: 13-52515246-C-T
• gnomAD v4: 13-51941110-C-T
• MyVariant Identifiers: chr13:g.52515246C>T (hg19) ; chr13:g.51941110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941110C>T , CM000675.2:g.51941110C>T	GRCh38
NC_000013.10:g.52515246C>T , CM000675.1:g.52515246C>T	GRCh37
NC_000013.9:g.51413247C>T	NCBI36
NG_008806.1:g.75385G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1177G>A	ENSP00000489512.2:n.*1177G>A
ENST00000673864.2:c.*2271G>A	ENSP00000501045.2:n.*2271G>A
ENST00000674147.2:c.2906G>A	ENSP00000500964.2:p.Gly969Glu
ENST00000242839.10:c.3527G>A MANE Select	ENSP00000242839.5:p.Gly1176Glu
ENST00000344297.9:c.2906G>A	ENSP00000342559.5:p.Gly969Glu
ENST00000400366.6:c.3194G>A	ENSP00000383217.3:p.Gly1065Glu
ENST00000448424.7:c.3275G>A	ENSP00000416738.3:p.Gly1092Glu
ENST00000673772.1:c.3293G>A	ENSP00000501168.1:p.Gly1098Glu
ENST00000673867.1:n.3666G>A
ENST00000674126.1:n.3890G>A
ENST00000674147.1:c.2462G>A	ENSP00000500964.1:p.Gly821Glu
ENST00000242839.8:c.3527G>A	ENSP00000242839.4:p.Gly1176Glu
ENST00000344297.8:c.2906G>A	ENSP00000342559.5:p.Gly969Glu
ENST00000400366.5:c.3194G>A	ENSP00000383217.3:p.Gly1065Glu
ENST00000400370.8:c.2237G>A	ENSP00000383221.3:p.Gly746Glu
ENST00000418097.7:c.3332G>A	ENSP00000393343.2:p.Gly1111Glu
ENST00000448424.6:c.3293G>A	ENSP00000416738.2:p.Gly1098Glu
ENST00000634296.1:c.1305G>A
ENST00000634308.1:c.*628G>A	ENSP00000489234.1:n.*628G>A
ENST00000634620.1:n.4271G>A
ENST00000634810.1:n.2872G>A
ENST00000634844.1:c.3383G>A	ENSP00000489398.1:p.Gly1128Glu
NM_000053.3:c.3527G>A	NP_000044.2:p.Gly1176Glu
NM_001005918.2:c.2906G>A	NP_001005918.1:p.Gly969Glu
NM_001243182.1:c.3194G>A	NP_001230111.1:p.Gly1065Glu
XM_005266423.2:c.3431G>A	XP_005266480.1:p.Gly1144Glu
XM_005266424.3:c.3431G>A	XP_005266481.1:p.Gly1144Glu
XM_005266427.2:c.3293G>A	XP_005266484.1:p.Gly1098Glu
XM_005266428.1:c.3275G>A	XP_005266485.1:p.Gly1092Glu
XM_005266430.3:c.3527G>A	XP_005266487.1:p.Gly1176Glu
XM_005266431.2:c.3491G>A	XP_005266488.1:p.Gly1164Glu
XM_005266432.2:c.3041G>A	XP_005266489.1:p.Gly1014Glu
XM_006719837.2:c.3431G>A	XP_006719900.1:p.Gly1144Glu
XM_006719838.1:c.1343G>A	XP_006719901.1:p.Gly448Glu
XM_006719839.1:c.1160G>A	XP_006719902.1:p.Gly387Glu
XM_011535117.1:c.3431G>A	XP_011533419.1:p.Gly1144Glu
XM_011535118.1:c.3392G>A	XP_011533420.1:p.Gly1131Glu
XM_011535119.1:c.3344G>A	XP_011533421.1:p.Gly1115Glu
XM_011535120.1:c.3113G>A	XP_011533422.1:p.Gly1038Glu
XM_011535121.1:c.3014G>A	XP_011533423.1:p.Gly1005Glu
XM_011535122.1:c.2195G>A	XP_011533424.1:p.Gly732Glu
XR_941601.1:n.3746G>A
XR_941602.1:n.3746G>A
XR_941603.1:n.3746G>A
XR_941604.1:n.3746G>A
NM_001330578.1:c.3293G>A	NP_001317507.1:p.Gly1098Glu
NM_001330579.1:c.3275G>A	NP_001317508.1:p.Gly1092Glu
XM_005266424.4:c.3431G>A	XP_005266481.1:p.Gly1144Glu
XM_005266430.4:c.3527G>A	XP_005266487.1:p.Gly1176Glu
XM_005266431.4:c.3491G>A	XP_005266488.1:p.Gly1164Glu
XM_006719837.3:c.3431G>A	XP_006719900.1:p.Gly1144Glu
XM_011535117.3:c.3431G>A	XP_011533419.1:p.Gly1144Glu
XM_017020627.1:c.3431G>A	XP_016876116.1:p.Gly1144Glu
NM_000053.4:c.3527G>A MANE Select	NP_000044.2:p.Gly1176Glu
NM_001005918.3:c.2906G>A	NP_001005918.1:p.Gly969Glu
NM_001330579.2:c.3275G>A	NP_001317508.1:p.Gly1092Glu
NM_001243182.2:c.3194G>A	NP_001230111.1:p.Gly1065Glu
NM_001330578.2:c.3293G>A	NP_001317507.1:p.Gly1098Glu