Canonical Allele Identifier: CA483894237

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515356T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941220T>A , CM000675.2:g.51941220T>A	GRCh38
NC_000013.10:g.52515356T>A , CM000675.1:g.52515356T>A	GRCh37
NC_000013.9:g.51413357T>A	NCBI36
NG_008806.1:g.75275A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1067A>T	ENSP00000489512.2:n.*1067A>T
ENST00000673864.2:c.*2161A>T	ENSP00000501045.2:n.*2161A>T
ENST00000674147.2:c.2796A>T	ENSP00000500964.2:p.Ala932=
ENST00000242839.10:c.3417A>T MANE Select	ENSP00000242839.5:p.Ala1139=
ENST00000344297.9:c.2796A>T	ENSP00000342559.5:p.Ala932=
ENST00000400366.6:c.3084A>T	ENSP00000383217.3:p.Ala1028=
ENST00000448424.7:c.3165A>T	ENSP00000416738.3:p.Ala1055=
ENST00000673772.1:c.3183A>T	ENSP00000501168.1:p.Ala1061=
ENST00000673867.1:n.3556A>T
ENST00000674126.1:n.3780A>T
ENST00000674147.1:c.2352A>T	ENSP00000500964.1:p.Ala784=
ENST00000242839.8:c.3417A>T	ENSP00000242839.4:p.Ala1139=
ENST00000344297.8:c.2796A>T	ENSP00000342559.5:p.Ala932=
ENST00000400366.5:c.3084A>T	ENSP00000383217.3:p.Ala1028=
ENST00000400370.8:c.2127A>T	ENSP00000383221.3:p.Ala709=
ENST00000418097.7:c.3222A>T	ENSP00000393343.2:p.Ala1074=
ENST00000448424.6:c.3183A>T	ENSP00000416738.2:p.Ala1061=
ENST00000634296.1:c.1195A>T
ENST00000634308.1:c.*518A>T	ENSP00000489234.1:n.*518A>T
ENST00000634620.1:n.4161A>T
ENST00000634810.1:n.2762A>T
ENST00000634844.1:c.3273A>T	ENSP00000489398.1:p.Ala1091=
NM_000053.3:c.3417A>T	NP_000044.2:p.Ala1139=
NM_001005918.2:c.2796A>T	NP_001005918.1:p.Ala932=
NM_001243182.1:c.3084A>T	NP_001230111.1:p.Ala1028=
XM_005266423.2:c.3321A>T	XP_005266480.1:p.Ala1107=
XM_005266424.3:c.3321A>T	XP_005266481.1:p.Ala1107=
XM_005266427.2:c.3183A>T	XP_005266484.1:p.Ala1061=
XM_005266428.1:c.3165A>T	XP_005266485.1:p.Ala1055=
XM_005266430.3:c.3417A>T	XP_005266487.1:p.Ala1139=
XM_005266431.2:c.3381A>T	XP_005266488.1:p.Ala1127=
XM_005266432.2:c.2931A>T	XP_005266489.1:p.Ala977=
XM_006719837.2:c.3321A>T	XP_006719900.1:p.Ala1107=
XM_006719838.1:c.1233A>T	XP_006719901.1:p.Ala411=
XM_006719839.1:c.1050A>T	XP_006719902.1:p.Ala350=
XM_011535117.1:c.3321A>T	XP_011533419.1:p.Ala1107=
XM_011535118.1:c.3282A>T	XP_011533420.1:p.Ala1094=
XM_011535119.1:c.3234A>T	XP_011533421.1:p.Ala1078=
XM_011535120.1:c.3003A>T	XP_011533422.1:p.Ala1001=
XM_011535121.1:c.2904A>T	XP_011533423.1:p.Ala968=
XM_011535122.1:c.2085A>T	XP_011533424.1:p.Ala695=
XR_941601.1:n.3636A>T
XR_941602.1:n.3636A>T
XR_941603.1:n.3636A>T
XR_941604.1:n.3636A>T
NM_001330578.1:c.3183A>T	NP_001317507.1:p.Ala1061=
NM_001330579.1:c.3165A>T	NP_001317508.1:p.Ala1055=
XM_005266424.4:c.3321A>T	XP_005266481.1:p.Ala1107=
XM_005266430.4:c.3417A>T	XP_005266487.1:p.Ala1139=
XM_005266431.4:c.3381A>T	XP_005266488.1:p.Ala1127=
XM_006719837.3:c.3321A>T	XP_006719900.1:p.Ala1107=
XM_011535117.3:c.3321A>T	XP_011533419.1:p.Ala1107=
XM_017020627.1:c.3321A>T	XP_016876116.1:p.Ala1107=
NM_000053.4:c.3417A>T MANE Select	NP_000044.2:p.Ala1139=
NM_001005918.3:c.2796A>T	NP_001005918.1:p.Ala932=
NM_001330579.2:c.3165A>T	NP_001317508.1:p.Ala1055=
NM_001243182.2:c.3084A>T	NP_001230111.1:p.Ala1028=
NM_001330578.2:c.3183A>T	NP_001317507.1:p.Ala1061=