Canonical Allele Identifier: CA483893823

Gene: ATP7B

Linked Data

• dbSNP Id: rs2138672330
• MyVariant Identifiers: chr13:g.52513307T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939171T>A , CM000675.2:g.51939171T>A	GRCh38
NC_000013.10:g.52513307T>A , CM000675.1:g.52513307T>A	GRCh37
NC_000013.9:g.51411308T>A	NCBI36
NG_008806.1:g.77324A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1229A>T	ENSP00000489512.2:n.*1229A>T
ENST00000673864.2:c.*2323A>T	ENSP00000501045.2:n.*2323A>T
ENST00000674147.2:c.2958A>T	ENSP00000500964.2:p.Ala986=
ENST00000242839.10:c.3579A>T MANE Select	ENSP00000242839.5:p.Ala1193=
ENST00000344297.9:c.2958A>T	ENSP00000342559.5:p.Ala986=
ENST00000400366.6:c.3246A>T	ENSP00000383217.3:p.Ala1082=
ENST00000448424.7:c.3327A>T	ENSP00000416738.3:p.Ala1109=
ENST00000673696.1:n.820A>T
ENST00000673772.1:c.3345A>T	ENSP00000501168.1:p.Ala1115=
ENST00000673867.1:n.3718A>T
ENST00000673923.1:n.445A>T
ENST00000674147.1:c.2514A>T	ENSP00000500964.1:p.Ala838=
ENST00000242839.8:c.3579A>T	ENSP00000242839.4:p.Ala1193=
ENST00000344297.8:c.2958A>T	ENSP00000342559.5:p.Ala986=
ENST00000400366.5:c.3246A>T	ENSP00000383217.3:p.Ala1082=
ENST00000400370.8:c.2289A>T	ENSP00000383221.3:p.Ala763=
ENST00000418097.7:c.3384A>T	ENSP00000393343.2:p.Ala1128=
ENST00000448424.6:c.3345A>T	ENSP00000416738.2:p.Ala1115=
ENST00000634296.1:c.1357A>T
ENST00000634308.1:c.*680A>T	ENSP00000489234.1:n.*680A>T
ENST00000634620.1:n.4323A>T
ENST00000634810.1:n.2924A>T
ENST00000634844.1:c.3435A>T	ENSP00000489398.1:p.Ala1145=
NM_000053.3:c.3579A>T	NP_000044.2:p.Ala1193=
NM_001005918.2:c.2958A>T	NP_001005918.1:p.Ala986=
NM_001243182.1:c.3246A>T	NP_001230111.1:p.Ala1082=
XM_005266423.2:c.3483A>T	XP_005266480.1:p.Ala1161=
XM_005266424.3:c.3483A>T	XP_005266481.1:p.Ala1161=
XM_005266427.2:c.3345A>T	XP_005266484.1:p.Ala1115=
XM_005266428.1:c.3327A>T	XP_005266485.1:p.Ala1109=
XM_005266430.3:c.3579A>T	XP_005266487.1:p.Ala1193=
XM_005266431.2:c.3543A>T	XP_005266488.1:p.Ala1181=
XM_005266432.2:c.3093A>T	XP_005266489.1:p.Ala1031=
XM_006719837.2:c.3483A>T	XP_006719900.1:p.Ala1161=
XM_006719838.1:c.1395A>T	XP_006719901.1:p.Ala465=
XM_006719839.1:c.1212A>T	XP_006719902.1:p.Ala404=
XM_011535117.1:c.3483A>T	XP_011533419.1:p.Ala1161=
XM_011535118.1:c.3444A>T	XP_011533420.1:p.Ala1148=
XM_011535119.1:c.3396A>T	XP_011533421.1:p.Ala1132=
XM_011535120.1:c.3165A>T	XP_011533422.1:p.Ala1055=
XM_011535121.1:c.3066A>T	XP_011533423.1:p.Ala1022=
XM_011535122.1:c.2247A>T	XP_011533424.1:p.Ala749=
XR_941601.1:n.3798A>T
XR_941602.1:n.3798A>T
XR_941603.1:n.3798A>T
XR_941604.1:n.3798A>T
NM_001330578.1:c.3345A>T	NP_001317507.1:p.Ala1115=
NM_001330579.1:c.3327A>T	NP_001317508.1:p.Ala1109=
XM_005266424.4:c.3483A>T	XP_005266481.1:p.Ala1161=
XM_005266430.4:c.3579A>T	XP_005266487.1:p.Ala1193=
XM_005266431.4:c.3543A>T	XP_005266488.1:p.Ala1181=
XM_006719837.3:c.3483A>T	XP_006719900.1:p.Ala1161=
XM_011535117.3:c.3483A>T	XP_011533419.1:p.Ala1161=
XM_017020627.1:c.3483A>T	XP_016876116.1:p.Ala1161=
NM_000053.4:c.3579A>T MANE Select	NP_000044.2:p.Ala1193=
NM_001005918.3:c.2958A>T	NP_001005918.1:p.Ala986=
NM_001330579.2:c.3327A>T	NP_001317508.1:p.Ala1109=
NM_001243182.2:c.3246A>T	NP_001230111.1:p.Ala1082=
NM_001330578.2:c.3345A>T	NP_001317507.1:p.Ala1115=