Canonical Allele Identifier: CA483894675

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518305C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944169C>T , CM000675.2:g.51944169C>T	GRCh38
NC_000013.10:g.52518305C>T , CM000675.1:g.52518305C>T	GRCh37
NC_000013.9:g.51416306C>T	NCBI36
NG_008806.1:g.72326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1615G>A	ENSP00000489512.2:n.*894-1615G>A
ENST00000673864.2:c.*1927G>A	ENSP00000501045.2:n.*1927G>A
ENST00000674147.2:c.2562G>A	ENSP00000500964.2:p.Gly854=
ENST00000242839.10:c.3183G>A MANE Select	ENSP00000242839.5:p.Gly1061=
ENST00000344297.9:c.2562G>A	ENSP00000342559.5:p.Gly854=
ENST00000400366.6:c.2850G>A	ENSP00000383217.3:p.Gly950=
ENST00000448424.7:c.2931G>A	ENSP00000416738.3:p.Gly977=
ENST00000673772.1:c.2949G>A	ENSP00000501168.1:p.Gly983=
ENST00000673867.1:n.3322G>A
ENST00000674126.1:n.3546G>A
ENST00000674147.1:c.2118G>A	ENSP00000500964.1:p.Gly706=
ENST00000242839.8:c.3183G>A	ENSP00000242839.4:p.Gly1061=
ENST00000344297.8:c.2562G>A	ENSP00000342559.5:p.Gly854=
ENST00000400366.5:c.2850G>A	ENSP00000383217.3:p.Gly950=
ENST00000400370.8:c.1893G>A	ENSP00000383221.3:p.Gly631=
ENST00000418097.7:c.2988G>A	ENSP00000393343.2:p.Gly996=
ENST00000448424.6:c.2949G>A	ENSP00000416738.2:p.Gly983=
ENST00000466629.1:n.403G>A
ENST00000634296.1:c.1022-1615G>A
ENST00000634308.1:c.*284G>A	ENSP00000489234.1:n.*284G>A
ENST00000634620.1:n.3927G>A
ENST00000634810.1:n.2528G>A
ENST00000634844.1:c.3039G>A	ENSP00000489398.1:p.Gly1013=
NM_000053.3:c.3183G>A	NP_000044.2:p.Gly1061=
NM_001005918.2:c.2562G>A	NP_001005918.1:p.Gly854=
NM_001243182.1:c.2850G>A	NP_001230111.1:p.Gly950=
XM_005266423.2:c.3087G>A	XP_005266480.1:p.Gly1029=
XM_005266424.3:c.3087G>A	XP_005266481.1:p.Gly1029=
XM_005266427.2:c.2949G>A	XP_005266484.1:p.Gly983=
XM_005266428.1:c.2931G>A	XP_005266485.1:p.Gly977=
XM_005266430.3:c.3183G>A	XP_005266487.1:p.Gly1061=
XM_005266431.2:c.3147G>A	XP_005266488.1:p.Gly1049=
XM_005266432.2:c.2697G>A	XP_005266489.1:p.Gly899=
XM_006719837.2:c.3087G>A	XP_006719900.1:p.Gly1029=
XM_006719838.1:c.999G>A	XP_006719901.1:p.Gly333=
XM_006719839.1:c.877-1615G>A	XP_006719902.1:n.877-1615G>A
XM_011535117.1:c.3087G>A	XP_011533419.1:p.Gly1029=
XM_011535118.1:c.3048G>A	XP_011533420.1:p.Gly1016=
XM_011535119.1:c.3061-1615G>A	XP_011533421.1:n.3061-1615G>A
XM_011535120.1:c.2769G>A	XP_011533422.1:p.Gly923=
XM_011535121.1:c.2731-1615G>A	XP_011533423.1:n.2731-1615G>A
XM_011535122.1:c.1851G>A	XP_011533424.1:p.Gly617=
XR_941601.1:n.3402G>A
XR_941602.1:n.3402G>A
XR_941603.1:n.3402G>A
XR_941604.1:n.3402G>A
NM_001330578.1:c.2949G>A	NP_001317507.1:p.Gly983=
NM_001330579.1:c.2931G>A	NP_001317508.1:p.Gly977=
XM_005266424.4:c.3087G>A	XP_005266481.1:p.Gly1029=
XM_005266430.4:c.3183G>A	XP_005266487.1:p.Gly1061=
XM_005266431.4:c.3147G>A	XP_005266488.1:p.Gly1049=
XM_006719837.3:c.3087G>A	XP_006719900.1:p.Gly1029=
XM_011535117.3:c.3087G>A	XP_011533419.1:p.Gly1029=
XM_017020627.1:c.3087G>A	XP_016876116.1:p.Gly1029=
NM_000053.4:c.3183G>A MANE Select	NP_000044.2:p.Gly1061=
NM_001005918.3:c.2562G>A	NP_001005918.1:p.Gly854=
NM_001330579.2:c.2931G>A	NP_001317508.1:p.Gly977=
NM_001243182.2:c.2850G>A	NP_001230111.1:p.Gly950=
NM_001330578.2:c.2949G>A	NP_001317507.1:p.Gly983=