Canonical Allele Identifier: CA250077293

Gene: ATP7B

Linked Data

• dbSNP Id: rs778749563
• gnomAD v3: 13-51941211-C-A
• gnomAD v4: 13-51941211-C-A
• MyVariant Identifiers: chr13:g.52515347C>A (hg19) ; chr13:g.51941211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941211C>A , CM000675.2:g.51941211C>A	GRCh38
NC_000013.10:g.52515347C>A , CM000675.1:g.52515347C>A	GRCh37
NC_000013.9:g.51413348C>A	NCBI36
NG_008806.1:g.75284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1076G>T	ENSP00000489512.2:n.*1076G>T
ENST00000673864.2:c.*2170G>T	ENSP00000501045.2:n.*2170G>T
ENST00000674147.2:c.2805G>T	ENSP00000500964.2:p.Gln935His
ENST00000242839.10:c.3426G>T MANE Select	ENSP00000242839.5:p.Gln1142His
ENST00000344297.9:c.2805G>T	ENSP00000342559.5:p.Gln935His
ENST00000400366.6:c.3093G>T	ENSP00000383217.3:p.Gln1031His
ENST00000448424.7:c.3174G>T	ENSP00000416738.3:p.Gln1058His
ENST00000673772.1:c.3192G>T	ENSP00000501168.1:p.Gln1064His
ENST00000673867.1:n.3565G>T
ENST00000674126.1:n.3789G>T
ENST00000674147.1:c.2361G>T	ENSP00000500964.1:p.Gln787His
ENST00000242839.8:c.3426G>T	ENSP00000242839.4:p.Gln1142His
ENST00000344297.8:c.2805G>T	ENSP00000342559.5:p.Gln935His
ENST00000400366.5:c.3093G>T	ENSP00000383217.3:p.Gln1031His
ENST00000400370.8:c.2136G>T	ENSP00000383221.3:p.Gln712His
ENST00000418097.7:c.3231G>T	ENSP00000393343.2:p.Gln1077His
ENST00000448424.6:c.3192G>T	ENSP00000416738.2:p.Gln1064His
ENST00000634296.1:c.1204G>T
ENST00000634308.1:c.*527G>T	ENSP00000489234.1:n.*527G>T
ENST00000634620.1:n.4170G>T
ENST00000634810.1:n.2771G>T
ENST00000634844.1:c.3282G>T	ENSP00000489398.1:p.Gln1094His
NM_000053.3:c.3426G>T	NP_000044.2:p.Gln1142His
NM_001005918.2:c.2805G>T	NP_001005918.1:p.Gln935His
NM_001243182.1:c.3093G>T	NP_001230111.1:p.Gln1031His
XM_005266423.2:c.3330G>T	XP_005266480.1:p.Gln1110His
XM_005266424.3:c.3330G>T	XP_005266481.1:p.Gln1110His
XM_005266427.2:c.3192G>T	XP_005266484.1:p.Gln1064His
XM_005266428.1:c.3174G>T	XP_005266485.1:p.Gln1058His
XM_005266430.3:c.3426G>T	XP_005266487.1:p.Gln1142His
XM_005266431.2:c.3390G>T	XP_005266488.1:p.Gln1130His
XM_005266432.2:c.2940G>T	XP_005266489.1:p.Gln980His
XM_006719837.2:c.3330G>T	XP_006719900.1:p.Gln1110His
XM_006719838.1:c.1242G>T	XP_006719901.1:p.Gln414His
XM_006719839.1:c.1059G>T	XP_006719902.1:p.Gln353His
XM_011535117.1:c.3330G>T	XP_011533419.1:p.Gln1110His
XM_011535118.1:c.3291G>T	XP_011533420.1:p.Gln1097His
XM_011535119.1:c.3243G>T	XP_011533421.1:p.Gln1081His
XM_011535120.1:c.3012G>T	XP_011533422.1:p.Gln1004His
XM_011535121.1:c.2913G>T	XP_011533423.1:p.Gln971His
XM_011535122.1:c.2094G>T	XP_011533424.1:p.Gln698His
XR_941601.1:n.3645G>T
XR_941602.1:n.3645G>T
XR_941603.1:n.3645G>T
XR_941604.1:n.3645G>T
NM_001330578.1:c.3192G>T	NP_001317507.1:p.Gln1064His
NM_001330579.1:c.3174G>T	NP_001317508.1:p.Gln1058His
XM_005266424.4:c.3330G>T	XP_005266481.1:p.Gln1110His
XM_005266430.4:c.3426G>T	XP_005266487.1:p.Gln1142His
XM_005266431.4:c.3390G>T	XP_005266488.1:p.Gln1130His
XM_006719837.3:c.3330G>T	XP_006719900.1:p.Gln1110His
XM_011535117.3:c.3330G>T	XP_011533419.1:p.Gln1110His
XM_017020627.1:c.3330G>T	XP_016876116.1:p.Gln1110His
NM_000053.4:c.3426G>T MANE Select	NP_000044.2:p.Gln1142His
NM_001005918.3:c.2805G>T	NP_001005918.1:p.Gln935His
NM_001330579.2:c.3174G>T	NP_001317508.1:p.Gln1058His
NM_001243182.2:c.3093G>T	NP_001230111.1:p.Gln1031His
NM_001330578.2:c.3192G>T	NP_001317507.1:p.Gln1064His