Canonical Allele Identifier: CA484024269

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511615G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937479G>T , CM000675.2:g.51937479G>T	GRCh38
NC_000013.10:g.52511615G>T , CM000675.1:g.52511615G>T	GRCh37
NC_000013.9:g.51409616G>T	NCBI36
NG_008806.1:g.79016C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1550C>A	ENSP00000489512.2:n.*1550C>A
ENST00000673864.2:c.*2644C>A	ENSP00000501045.2:n.*2644C>A
ENST00000674147.2:c.3279C>A	ENSP00000500964.2:p.Ile1093=
ENST00000242839.10:c.3900C>A MANE Select	ENSP00000242839.5:p.Ile1300=
ENST00000344297.9:c.3279C>A	ENSP00000342559.5:p.Ile1093=
ENST00000400366.6:c.3567C>A	ENSP00000383217.3:p.Ile1189=
ENST00000448424.7:c.3648C>A	ENSP00000416738.3:p.Ile1216=
ENST00000673696.1:n.1141C>A
ENST00000673772.1:c.3666C>A	ENSP00000501168.1:p.Ile1222=
ENST00000673867.1:n.4039C>A
ENST00000673923.1:n.766C>A
ENST00000674147.1:c.2835C>A	ENSP00000500964.1:p.Ile945=
ENST00000242839.8:c.3900C>A	ENSP00000242839.4:p.Ile1300=
ENST00000344297.8:c.3279C>A	ENSP00000342559.5:p.Ile1093=
ENST00000400366.5:c.3567C>A	ENSP00000383217.3:p.Ile1189=
ENST00000400370.8:c.2610C>A	ENSP00000383221.3:p.Ile870=
ENST00000418097.7:c.3705C>A	ENSP00000393343.2:p.Ile1235=
ENST00000448424.6:c.3666C>A	ENSP00000416738.2:p.Ile1222=
ENST00000634296.1:c.1678C>A
ENST00000634308.1:c.*1001C>A	ENSP00000489234.1:n.*1001C>A
ENST00000634620.1:n.4644C>A
ENST00000634810.1:n.3245C>A
ENST00000634844.1:c.3756C>A	ENSP00000489398.1:p.Ile1252=
NM_000053.3:c.3900C>A	NP_000044.2:p.Ile1300=
NM_001005918.2:c.3279C>A	NP_001005918.1:p.Ile1093=
NM_001243182.1:c.3567C>A	NP_001230111.1:p.Ile1189=
XM_005266423.2:c.3804C>A	XP_005266480.1:p.Ile1268=
XM_005266424.3:c.3804C>A	XP_005266481.1:p.Ile1268=
XM_005266427.2:c.3666C>A	XP_005266484.1:p.Ile1222=
XM_005266428.1:c.3648C>A	XP_005266485.1:p.Ile1216=
XM_005266430.3:c.3900C>A	XP_005266487.1:p.Ile1300=
XM_005266431.2:c.3864C>A	XP_005266488.1:p.Ile1288=
XM_005266432.2:c.3414C>A	XP_005266489.1:p.Ile1138=
XM_006719837.2:c.3804C>A	XP_006719900.1:p.Ile1268=
XM_006719838.1:c.1716C>A	XP_006719901.1:p.Ile572=
XM_006719839.1:c.1533C>A	XP_006719902.1:p.Ile511=
XM_011535117.1:c.3804C>A	XP_011533419.1:p.Ile1268=
XM_011535118.1:c.3765C>A	XP_011533420.1:p.Ile1255=
XM_011535119.1:c.3717C>A	XP_011533421.1:p.Ile1239=
XM_011535120.1:c.3486C>A	XP_011533422.1:p.Ile1162=
XM_011535121.1:c.3387C>A	XP_011533423.1:p.Ile1129=
XM_011535122.1:c.2568C>A	XP_011533424.1:p.Ile856=
XR_941601.1:n.4119C>A
XR_941602.1:n.4119C>A
XR_941603.1:n.4119C>A
XR_941604.1:n.4119C>A
NM_001330578.1:c.3666C>A	NP_001317507.1:p.Ile1222=
NM_001330579.1:c.3648C>A	NP_001317508.1:p.Ile1216=
XM_005266424.4:c.3804C>A	XP_005266481.1:p.Ile1268=
XM_005266430.4:c.3900C>A	XP_005266487.1:p.Ile1300=
XM_005266431.4:c.3864C>A	XP_005266488.1:p.Ile1288=
XM_006719837.3:c.3804C>A	XP_006719900.1:p.Ile1268=
XM_011535117.3:c.3804C>A	XP_011533419.1:p.Ile1268=
XM_017020627.1:c.3804C>A	XP_016876116.1:p.Ile1268=
NM_000053.4:c.3900C>A MANE Select	NP_000044.2:p.Ile1300=
NM_001005918.3:c.3279C>A	NP_001005918.1:p.Ile1093=
NM_001330579.2:c.3648C>A	NP_001317508.1:p.Ile1216=
NM_001243182.2:c.3567C>A	NP_001230111.1:p.Ile1189=
NM_001330578.2:c.3666C>A	NP_001317507.1:p.Ile1222=