Canonical Allele Identifier: CA483893481

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511452C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937316C>A , CM000675.2:g.51937316C>A	GRCh38
NC_000013.10:g.52511452C>A , CM000675.1:g.52511452C>A	GRCh37
NC_000013.9:g.51409453C>A	NCBI36
NG_008806.1:g.79179G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1631G>T	ENSP00000489512.2:n.*1631G>T
ENST00000673864.2:c.*2725G>T	ENSP00000501045.2:n.*2725G>T
ENST00000674147.2:c.3360G>T	ENSP00000500964.2:p.Leu1120=
ENST00000242839.10:c.3981G>T MANE Select	ENSP00000242839.5:p.Leu1327=
ENST00000344297.9:c.3360G>T	ENSP00000342559.5:p.Leu1120=
ENST00000400366.6:c.3648G>T	ENSP00000383217.3:p.Leu1216=
ENST00000448424.7:c.3729G>T	ENSP00000416738.3:p.Leu1243=
ENST00000673696.1:n.1304G>T
ENST00000673772.1:c.3747G>T	ENSP00000501168.1:p.Leu1249=
ENST00000673867.1:n.4120G>T
ENST00000673923.1:n.847G>T
ENST00000674147.1:c.2916G>T	ENSP00000500964.1:p.Leu972=
ENST00000242839.8:c.3981G>T	ENSP00000242839.4:p.Leu1327=
ENST00000344297.8:c.3360G>T	ENSP00000342559.5:p.Leu1120=
ENST00000400366.5:c.3648G>T	ENSP00000383217.3:p.Leu1216=
ENST00000400370.8:c.2691G>T	ENSP00000383221.3:p.Leu897=
ENST00000418097.7:c.3786G>T	ENSP00000393343.2:p.Leu1262=
ENST00000448424.6:c.3747G>T	ENSP00000416738.2:p.Leu1249=
ENST00000634296.1:c.1759G>T
ENST00000634308.1:c.*1082G>T	ENSP00000489234.1:n.*1082G>T
ENST00000634620.1:n.4725G>T
ENST00000634810.1:n.3326G>T
ENST00000634844.1:c.3837G>T	ENSP00000489398.1:p.Leu1279=
NM_000053.3:c.3981G>T	NP_000044.2:p.Leu1327=
NM_001005918.2:c.3360G>T	NP_001005918.1:p.Leu1120=
NM_001243182.1:c.3648G>T	NP_001230111.1:p.Leu1216=
XM_005266423.2:c.3885G>T	XP_005266480.1:p.Leu1295=
XM_005266424.3:c.3885G>T	XP_005266481.1:p.Leu1295=
XM_005266427.2:c.3747G>T	XP_005266484.1:p.Leu1249=
XM_005266428.1:c.3729G>T	XP_005266485.1:p.Leu1243=
XM_005266430.3:c.3981G>T	XP_005266487.1:p.Leu1327=
XM_005266431.2:c.3945G>T	XP_005266488.1:p.Leu1315=
XM_005266432.2:c.3495G>T	XP_005266489.1:p.Leu1165=
XM_006719837.2:c.3885G>T	XP_006719900.1:p.Leu1295=
XM_006719838.1:c.1797G>T	XP_006719901.1:p.Leu599=
XM_006719839.1:c.1614G>T	XP_006719902.1:p.Leu538=
XM_011535117.1:c.3885G>T	XP_011533419.1:p.Leu1295=
XM_011535118.1:c.3846G>T	XP_011533420.1:p.Leu1282=
XM_011535119.1:c.3798G>T	XP_011533421.1:p.Leu1266=
XM_011535120.1:c.3567G>T	XP_011533422.1:p.Leu1189=
XM_011535121.1:c.3468G>T	XP_011533423.1:p.Leu1156=
XM_011535122.1:c.2649G>T	XP_011533424.1:p.Leu883=
XR_941601.1:n.4200G>T
XR_941602.1:n.4200G>T
XR_941603.1:n.4200G>T
XR_941604.1:n.4200G>T
NM_001330578.1:c.3747G>T	NP_001317507.1:p.Leu1249=
NM_001330579.1:c.3729G>T	NP_001317508.1:p.Leu1243=
XM_005266424.4:c.3885G>T	XP_005266481.1:p.Leu1295=
XM_005266430.4:c.3981G>T	XP_005266487.1:p.Leu1327=
XM_005266431.4:c.3945G>T	XP_005266488.1:p.Leu1315=
XM_006719837.3:c.3885G>T	XP_006719900.1:p.Leu1295=
XM_011535117.3:c.3885G>T	XP_011533419.1:p.Leu1295=
XM_017020627.1:c.3885G>T	XP_016876116.1:p.Leu1295=
NM_000053.4:c.3981G>T MANE Select	NP_000044.2:p.Leu1327=
NM_001005918.3:c.3360G>T	NP_001005918.1:p.Leu1120=
NM_001330579.2:c.3729G>T	NP_001317508.1:p.Leu1243=
NM_001243182.2:c.3648G>T	NP_001230111.1:p.Leu1216=
NM_001330578.2:c.3747G>T	NP_001317507.1:p.Leu1249=