Canonical Allele Identifier: CA483893789

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513277G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939141G>T , CM000675.2:g.51939141G>T	GRCh38
NC_000013.10:g.52513277G>T , CM000675.1:g.52513277G>T	GRCh37
NC_000013.9:g.51411278G>T	NCBI36
NG_008806.1:g.77354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1259C>A	ENSP00000489512.2:n.*1259C>A
ENST00000673864.2:c.*2353C>A	ENSP00000501045.2:n.*2353C>A
ENST00000674147.2:c.2988C>A	ENSP00000500964.2:p.Ala996=
ENST00000242839.10:c.3609C>A MANE Select	ENSP00000242839.5:p.Ala1203=
ENST00000344297.9:c.2988C>A	ENSP00000342559.5:p.Ala996=
ENST00000400366.6:c.3276C>A	ENSP00000383217.3:p.Ala1092=
ENST00000448424.7:c.3357C>A	ENSP00000416738.3:p.Ala1119=
ENST00000673696.1:n.850C>A
ENST00000673772.1:c.3375C>A	ENSP00000501168.1:p.Ala1125=
ENST00000673867.1:n.3748C>A
ENST00000673923.1:n.475C>A
ENST00000674147.1:c.2544C>A	ENSP00000500964.1:p.Ala848=
ENST00000242839.8:c.3609C>A	ENSP00000242839.4:p.Ala1203=
ENST00000344297.8:c.2988C>A	ENSP00000342559.5:p.Ala996=
ENST00000400366.5:c.3276C>A	ENSP00000383217.3:p.Ala1092=
ENST00000400370.8:c.2319C>A	ENSP00000383221.3:p.Ala773=
ENST00000418097.7:c.3414C>A	ENSP00000393343.2:p.Ala1138=
ENST00000448424.6:c.3375C>A	ENSP00000416738.2:p.Ala1125=
ENST00000634296.1:c.1387C>A
ENST00000634308.1:c.*710C>A	ENSP00000489234.1:n.*710C>A
ENST00000634620.1:n.4353C>A
ENST00000634810.1:n.2954C>A
ENST00000634844.1:c.3465C>A	ENSP00000489398.1:p.Ala1155=
NM_000053.3:c.3609C>A	NP_000044.2:p.Ala1203=
NM_001005918.2:c.2988C>A	NP_001005918.1:p.Ala996=
NM_001243182.1:c.3276C>A	NP_001230111.1:p.Ala1092=
XM_005266423.2:c.3513C>A	XP_005266480.1:p.Ala1171=
XM_005266424.3:c.3513C>A	XP_005266481.1:p.Ala1171=
XM_005266427.2:c.3375C>A	XP_005266484.1:p.Ala1125=
XM_005266428.1:c.3357C>A	XP_005266485.1:p.Ala1119=
XM_005266430.3:c.3609C>A	XP_005266487.1:p.Ala1203=
XM_005266431.2:c.3573C>A	XP_005266488.1:p.Ala1191=
XM_005266432.2:c.3123C>A	XP_005266489.1:p.Ala1041=
XM_006719837.2:c.3513C>A	XP_006719900.1:p.Ala1171=
XM_006719838.1:c.1425C>A	XP_006719901.1:p.Ala475=
XM_006719839.1:c.1242C>A	XP_006719902.1:p.Ala414=
XM_011535117.1:c.3513C>A	XP_011533419.1:p.Ala1171=
XM_011535118.1:c.3474C>A	XP_011533420.1:p.Ala1158=
XM_011535119.1:c.3426C>A	XP_011533421.1:p.Ala1142=
XM_011535120.1:c.3195C>A	XP_011533422.1:p.Ala1065=
XM_011535121.1:c.3096C>A	XP_011533423.1:p.Ala1032=
XM_011535122.1:c.2277C>A	XP_011533424.1:p.Ala759=
XR_941601.1:n.3828C>A
XR_941602.1:n.3828C>A
XR_941603.1:n.3828C>A
XR_941604.1:n.3828C>A
NM_001330578.1:c.3375C>A	NP_001317507.1:p.Ala1125=
NM_001330579.1:c.3357C>A	NP_001317508.1:p.Ala1119=
XM_005266424.4:c.3513C>A	XP_005266481.1:p.Ala1171=
XM_005266430.4:c.3609C>A	XP_005266487.1:p.Ala1203=
XM_005266431.4:c.3573C>A	XP_005266488.1:p.Ala1191=
XM_006719837.3:c.3513C>A	XP_006719900.1:p.Ala1171=
XM_011535117.3:c.3513C>A	XP_011533419.1:p.Ala1171=
XM_017020627.1:c.3513C>A	XP_016876116.1:p.Ala1171=
NM_000053.4:c.3609C>A MANE Select	NP_000044.2:p.Ala1203=
NM_001005918.3:c.2988C>A	NP_001005918.1:p.Ala996=
NM_001330579.2:c.3357C>A	NP_001317508.1:p.Ala1119=
NM_001243182.2:c.3276C>A	NP_001230111.1:p.Ala1092=
NM_001330578.2:c.3375C>A	NP_001317507.1:p.Ala1125=