Canonical Allele Identifier: CA388021418

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511627G>C (hg19) ; chr13:g.51937491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937491G>C , CM000675.2:g.51937491G>C	GRCh38
NC_000013.10:g.52511627G>C , CM000675.1:g.52511627G>C	GRCh37
NC_000013.9:g.51409628G>C	NCBI36
NG_008806.1:g.79004C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1538C>G	ENSP00000489512.2:n.*1538C>G
ENST00000673864.2:c.*2632C>G	ENSP00000501045.2:n.*2632C>G
ENST00000674147.2:c.3267C>G	ENSP00000500964.2:p.Asp1089Glu
ENST00000242839.10:c.3888C>G MANE Select	ENSP00000242839.5:p.Asp1296Glu
ENST00000344297.9:c.3267C>G	ENSP00000342559.5:p.Asp1089Glu
ENST00000400366.6:c.3555C>G	ENSP00000383217.3:p.Asp1185Glu
ENST00000448424.7:c.3636C>G	ENSP00000416738.3:p.Asp1212Glu
ENST00000673696.1:n.1129C>G
ENST00000673772.1:c.3654C>G	ENSP00000501168.1:p.Asp1218Glu
ENST00000673867.1:n.4027C>G
ENST00000673923.1:n.754C>G
ENST00000674147.1:c.2823C>G	ENSP00000500964.1:p.Asp941Glu
ENST00000242839.8:c.3888C>G	ENSP00000242839.4:p.Asp1296Glu
ENST00000344297.8:c.3267C>G	ENSP00000342559.5:p.Asp1089Glu
ENST00000400366.5:c.3555C>G	ENSP00000383217.3:p.Asp1185Glu
ENST00000400370.8:c.2598C>G	ENSP00000383221.3:p.Asp866Glu
ENST00000418097.7:c.3693C>G	ENSP00000393343.2:p.Asp1231Glu
ENST00000448424.6:c.3654C>G	ENSP00000416738.2:p.Asp1218Glu
ENST00000634296.1:c.1666C>G
ENST00000634308.1:c.*989C>G	ENSP00000489234.1:n.*989C>G
ENST00000634620.1:n.4632C>G
ENST00000634810.1:n.3233C>G
ENST00000634844.1:c.3744C>G	ENSP00000489398.1:p.Asp1248Glu
NM_000053.3:c.3888C>G	NP_000044.2:p.Asp1296Glu
NM_001005918.2:c.3267C>G	NP_001005918.1:p.Asp1089Glu
NM_001243182.1:c.3555C>G	NP_001230111.1:p.Asp1185Glu
XM_005266423.2:c.3792C>G	XP_005266480.1:p.Asp1264Glu
XM_005266424.3:c.3792C>G	XP_005266481.1:p.Asp1264Glu
XM_005266427.2:c.3654C>G	XP_005266484.1:p.Asp1218Glu
XM_005266428.1:c.3636C>G	XP_005266485.1:p.Asp1212Glu
XM_005266430.3:c.3888C>G	XP_005266487.1:p.Asp1296Glu
XM_005266431.2:c.3852C>G	XP_005266488.1:p.Asp1284Glu
XM_005266432.2:c.3402C>G	XP_005266489.1:p.Asp1134Glu
XM_006719837.2:c.3792C>G	XP_006719900.1:p.Asp1264Glu
XM_006719838.1:c.1704C>G	XP_006719901.1:p.Asp568Glu
XM_006719839.1:c.1521C>G	XP_006719902.1:p.Asp507Glu
XM_011535117.1:c.3792C>G	XP_011533419.1:p.Asp1264Glu
XM_011535118.1:c.3753C>G	XP_011533420.1:p.Asp1251Glu
XM_011535119.1:c.3705C>G	XP_011533421.1:p.Asp1235Glu
XM_011535120.1:c.3474C>G	XP_011533422.1:p.Asp1158Glu
XM_011535121.1:c.3375C>G	XP_011533423.1:p.Asp1125Glu
XM_011535122.1:c.2556C>G	XP_011533424.1:p.Asp852Glu
XR_941601.1:n.4107C>G
XR_941602.1:n.4107C>G
XR_941603.1:n.4107C>G
XR_941604.1:n.4107C>G
NM_001330578.1:c.3654C>G	NP_001317507.1:p.Asp1218Glu
NM_001330579.1:c.3636C>G	NP_001317508.1:p.Asp1212Glu
XM_005266424.4:c.3792C>G	XP_005266481.1:p.Asp1264Glu
XM_005266430.4:c.3888C>G	XP_005266487.1:p.Asp1296Glu
XM_005266431.4:c.3852C>G	XP_005266488.1:p.Asp1284Glu
XM_006719837.3:c.3792C>G	XP_006719900.1:p.Asp1264Glu
XM_011535117.3:c.3792C>G	XP_011533419.1:p.Asp1264Glu
XM_017020627.1:c.3792C>G	XP_016876116.1:p.Asp1264Glu
NM_000053.4:c.3888C>G MANE Select	NP_000044.2:p.Asp1296Glu
NM_001005918.3:c.3267C>G	NP_001005918.1:p.Asp1089Glu
NM_001330579.2:c.3636C>G	NP_001317508.1:p.Asp1212Glu
NM_001243182.2:c.3555C>G	NP_001230111.1:p.Asp1185Glu
NM_001330578.2:c.3654C>G	NP_001317507.1:p.Asp1218Glu