Canonical Allele Identifier: CA483893940

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515242C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941106C>T , CM000675.2:g.51941106C>T	GRCh38
NC_000013.10:g.52515242C>T , CM000675.1:g.52515242C>T	GRCh37
NC_000013.9:g.51413243C>T	NCBI36
NG_008806.1:g.75389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1181G>A	ENSP00000489512.2:n.*1181G>A
ENST00000673864.2:c.*2275G>A	ENSP00000501045.2:n.*2275G>A
ENST00000674147.2:c.2910G>A	ENSP00000500964.2:p.Gln970=
ENST00000242839.10:c.3531G>A MANE Select	ENSP00000242839.5:p.Gln1177=
ENST00000344297.9:c.2910G>A	ENSP00000342559.5:p.Gln970=
ENST00000400366.6:c.3198G>A	ENSP00000383217.3:p.Gln1066=
ENST00000448424.7:c.3279G>A	ENSP00000416738.3:p.Gln1093=
ENST00000673772.1:c.3297G>A	ENSP00000501168.1:p.Gln1099=
ENST00000673867.1:n.3670G>A
ENST00000674126.1:n.3894G>A
ENST00000674147.1:c.2466G>A	ENSP00000500964.1:p.Gln822=
ENST00000242839.8:c.3531G>A	ENSP00000242839.4:p.Gln1177=
ENST00000344297.8:c.2910G>A	ENSP00000342559.5:p.Gln970=
ENST00000400366.5:c.3198G>A	ENSP00000383217.3:p.Gln1066=
ENST00000400370.8:c.2241G>A	ENSP00000383221.3:p.Gln747=
ENST00000418097.7:c.3336G>A	ENSP00000393343.2:p.Gln1112=
ENST00000448424.6:c.3297G>A	ENSP00000416738.2:p.Gln1099=
ENST00000634296.1:c.1309G>A
ENST00000634308.1:c.*632G>A	ENSP00000489234.1:n.*632G>A
ENST00000634620.1:n.4275G>A
ENST00000634810.1:n.2876G>A
ENST00000634844.1:c.3387G>A	ENSP00000489398.1:p.Gln1129=
NM_000053.3:c.3531G>A	NP_000044.2:p.Gln1177=
NM_001005918.2:c.2910G>A	NP_001005918.1:p.Gln970=
NM_001243182.1:c.3198G>A	NP_001230111.1:p.Gln1066=
XM_005266423.2:c.3435G>A	XP_005266480.1:p.Gln1145=
XM_005266424.3:c.3435G>A	XP_005266481.1:p.Gln1145=
XM_005266427.2:c.3297G>A	XP_005266484.1:p.Gln1099=
XM_005266428.1:c.3279G>A	XP_005266485.1:p.Gln1093=
XM_005266430.3:c.3531G>A	XP_005266487.1:p.Gln1177=
XM_005266431.2:c.3495G>A	XP_005266488.1:p.Gln1165=
XM_005266432.2:c.3045G>A	XP_005266489.1:p.Gln1015=
XM_006719837.2:c.3435G>A	XP_006719900.1:p.Gln1145=
XM_006719838.1:c.1347G>A	XP_006719901.1:p.Gln449=
XM_006719839.1:c.1164G>A	XP_006719902.1:p.Gln388=
XM_011535117.1:c.3435G>A	XP_011533419.1:p.Gln1145=
XM_011535118.1:c.3396G>A	XP_011533420.1:p.Gln1132=
XM_011535119.1:c.3348G>A	XP_011533421.1:p.Gln1116=
XM_011535120.1:c.3117G>A	XP_011533422.1:p.Gln1039=
XM_011535121.1:c.3018G>A	XP_011533423.1:p.Gln1006=
XM_011535122.1:c.2199G>A	XP_011533424.1:p.Gln733=
XR_941601.1:n.3750G>A
XR_941602.1:n.3750G>A
XR_941603.1:n.3750G>A
XR_941604.1:n.3750G>A
NM_001330578.1:c.3297G>A	NP_001317507.1:p.Gln1099=
NM_001330579.1:c.3279G>A	NP_001317508.1:p.Gln1093=
XM_005266424.4:c.3435G>A	XP_005266481.1:p.Gln1145=
XM_005266430.4:c.3531G>A	XP_005266487.1:p.Gln1177=
XM_005266431.4:c.3495G>A	XP_005266488.1:p.Gln1165=
XM_006719837.3:c.3435G>A	XP_006719900.1:p.Gln1145=
XM_011535117.3:c.3435G>A	XP_011533419.1:p.Gln1145=
XM_017020627.1:c.3435G>A	XP_016876116.1:p.Gln1145=
NM_000053.4:c.3531G>A MANE Select	NP_000044.2:p.Gln1177=
NM_001005918.3:c.2910G>A	NP_001005918.1:p.Gln970=
NM_001330579.2:c.3279G>A	NP_001317508.1:p.Gln1093=
NM_001243182.2:c.3198G>A	NP_001230111.1:p.Gln1066=
NM_001330578.2:c.3297G>A	NP_001317507.1:p.Gln1099=