Canonical Allele Identifier: CA483893930

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515230C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941094C>T , CM000675.2:g.51941094C>T	GRCh38
NC_000013.10:g.52515230C>T , CM000675.1:g.52515230C>T	GRCh37
NC_000013.9:g.51413231C>T	NCBI36
NG_008806.1:g.75401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1193G>A	ENSP00000489512.2:n.*1193G>A
ENST00000673864.2:c.*2287G>A	ENSP00000501045.2:n.*2287G>A
ENST00000674147.2:c.2922G>A	ENSP00000500964.2:p.Leu974=
ENST00000242839.10:c.3543G>A MANE Select	ENSP00000242839.5:p.Leu1181=
ENST00000344297.9:c.2922G>A	ENSP00000342559.5:p.Leu974=
ENST00000400366.6:c.3210G>A	ENSP00000383217.3:p.Leu1070=
ENST00000448424.7:c.3291G>A	ENSP00000416738.3:p.Leu1097=
ENST00000673772.1:c.3309G>A	ENSP00000501168.1:p.Leu1103=
ENST00000673867.1:n.3682G>A
ENST00000674126.1:n.3906G>A
ENST00000674147.1:c.2478G>A	ENSP00000500964.1:p.Leu826=
ENST00000242839.8:c.3543G>A	ENSP00000242839.4:p.Leu1181=
ENST00000344297.8:c.2922G>A	ENSP00000342559.5:p.Leu974=
ENST00000400366.5:c.3210G>A	ENSP00000383217.3:p.Leu1070=
ENST00000400370.8:c.2253G>A	ENSP00000383221.3:p.Leu751=
ENST00000418097.7:c.3348G>A	ENSP00000393343.2:p.Leu1116=
ENST00000448424.6:c.3309G>A	ENSP00000416738.2:p.Leu1103=
ENST00000634296.1:c.1321G>A
ENST00000634308.1:c.*644G>A	ENSP00000489234.1:n.*644G>A
ENST00000634620.1:n.4287G>A
ENST00000634810.1:n.2888G>A
ENST00000634844.1:c.3399G>A	ENSP00000489398.1:p.Leu1133=
NM_000053.3:c.3543G>A	NP_000044.2:p.Leu1181=
NM_001005918.2:c.2922G>A	NP_001005918.1:p.Leu974=
NM_001243182.1:c.3210G>A	NP_001230111.1:p.Leu1070=
XM_005266423.2:c.3447G>A	XP_005266480.1:p.Leu1149=
XM_005266424.3:c.3447G>A	XP_005266481.1:p.Leu1149=
XM_005266427.2:c.3309G>A	XP_005266484.1:p.Leu1103=
XM_005266428.1:c.3291G>A	XP_005266485.1:p.Leu1097=
XM_005266430.3:c.3543G>A	XP_005266487.1:p.Leu1181=
XM_005266431.2:c.3507G>A	XP_005266488.1:p.Leu1169=
XM_005266432.2:c.3057G>A	XP_005266489.1:p.Leu1019=
XM_006719837.2:c.3447G>A	XP_006719900.1:p.Leu1149=
XM_006719838.1:c.1359G>A	XP_006719901.1:p.Leu453=
XM_006719839.1:c.1176G>A	XP_006719902.1:p.Leu392=
XM_011535117.1:c.3447G>A	XP_011533419.1:p.Leu1149=
XM_011535118.1:c.3408G>A	XP_011533420.1:p.Leu1136=
XM_011535119.1:c.3360G>A	XP_011533421.1:p.Leu1120=
XM_011535120.1:c.3129G>A	XP_011533422.1:p.Leu1043=
XM_011535121.1:c.3030G>A	XP_011533423.1:p.Leu1010=
XM_011535122.1:c.2211G>A	XP_011533424.1:p.Leu737=
XR_941601.1:n.3762G>A
XR_941602.1:n.3762G>A
XR_941603.1:n.3762G>A
XR_941604.1:n.3762G>A
NM_001330578.1:c.3309G>A	NP_001317507.1:p.Leu1103=
NM_001330579.1:c.3291G>A	NP_001317508.1:p.Leu1097=
XM_005266424.4:c.3447G>A	XP_005266481.1:p.Leu1149=
XM_005266430.4:c.3543G>A	XP_005266487.1:p.Leu1181=
XM_005266431.4:c.3507G>A	XP_005266488.1:p.Leu1169=
XM_006719837.3:c.3447G>A	XP_006719900.1:p.Leu1149=
XM_011535117.3:c.3447G>A	XP_011533419.1:p.Leu1149=
XM_017020627.1:c.3447G>A	XP_016876116.1:p.Leu1149=
NM_000053.4:c.3543G>A MANE Select	NP_000044.2:p.Leu1181=
NM_001005918.3:c.2922G>A	NP_001005918.1:p.Leu974=
NM_001330579.2:c.3291G>A	NP_001317508.1:p.Leu1097=
NM_001243182.2:c.3210G>A	NP_001230111.1:p.Leu1070=
NM_001330578.2:c.3309G>A	NP_001317507.1:p.Leu1103=