Canonical Allele Identifier: CA483895784

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52524499G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950363G>T , CM000675.2:g.51950363G>T	GRCh38
NC_000013.10:g.52524499G>T , CM000675.1:g.52524499G>T	GRCh37
NC_000013.9:g.51422500G>T	NCBI36
NG_008806.1:g.66132C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*317C>A	ENSP00000489512.2:n.*317C>A
ENST00000673864.2:c.*1228C>A	ENSP00000501045.2:n.*1228C>A
ENST00000674147.2:c.1998C>A	ENSP00000500964.2:p.Gly666=
ENST00000242839.10:c.2484C>A MANE Select	ENSP00000242839.5:p.Gly828=
ENST00000344297.9:c.1998C>A	ENSP00000342559.5:p.Gly666=
ENST00000400366.6:c.2151C>A	ENSP00000383217.3:p.Gly717=
ENST00000448424.7:c.2232C>A	ENSP00000416738.3:p.Gly744=
ENST00000673772.1:c.2250C>A	ENSP00000501168.1:p.Gly750=
ENST00000674147.1:c.1554C>A	ENSP00000500964.1:p.Gly518=
ENST00000242839.8:c.2484C>A	ENSP00000242839.4:p.Gly828=
ENST00000344297.8:c.1998C>A	ENSP00000342559.5:p.Gly666=
ENST00000400366.5:c.2151C>A	ENSP00000383217.3:p.Gly717=
ENST00000400370.8:c.1286-202C>A	ENSP00000383221.3:n.1286-202C>A
ENST00000418097.7:c.2484C>A	ENSP00000393343.2:p.Gly828=
ENST00000448424.6:c.2250C>A	ENSP00000416738.2:p.Gly750=
ENST00000634296.1:c.445C>A
ENST00000634308.1:c.2250C>A	ENSP00000489234.1:p.Gly750=
ENST00000634620.1:n.3282C>A
ENST00000634810.1:n.1829C>A
ENST00000634844.1:c.2340C>A	ENSP00000489398.1:p.Gly780=
ENST00000635406.1:n.212-3885C>A
NM_000053.3:c.2484C>A	NP_000044.2:p.Gly828=
NM_001005918.2:c.1998C>A	NP_001005918.1:p.Gly666=
NM_001243182.1:c.2151C>A	NP_001230111.1:p.Gly717=
XM_005266423.2:c.2388C>A	XP_005266480.1:p.Gly796=
XM_005266424.3:c.2388C>A	XP_005266481.1:p.Gly796=
XM_005266427.2:c.2250C>A	XP_005266484.1:p.Gly750=
XM_005266428.1:c.2232C>A	XP_005266485.1:p.Gly744=
XM_005266430.3:c.2484C>A	XP_005266487.1:p.Gly828=
XM_005266431.2:c.2448C>A	XP_005266488.1:p.Gly816=
XM_005266432.2:c.1998C>A	XP_005266489.1:p.Gly666=
XM_006719837.2:c.2388C>A	XP_006719900.1:p.Gly796=
XM_006719838.1:c.300C>A	XP_006719901.1:p.Gly100=
XM_006719839.1:c.300C>A	XP_006719902.1:p.Gly100=
XM_011535117.1:c.2388C>A	XP_011533419.1:p.Gly796=
XM_011535118.1:c.2484C>A	XP_011533420.1:p.Gly828=
XM_011535119.1:c.2484C>A	XP_011533421.1:p.Gly828=
XM_011535120.1:c.2070C>A	XP_011533422.1:p.Gly690=
XM_011535121.1:c.2484C>A	XP_011533423.1:p.Gly828=
XM_011535122.1:c.1152C>A	XP_011533424.1:p.Gly384=
XR_941601.1:n.2703C>A
XR_941602.1:n.2703C>A
XR_941603.1:n.2703C>A
XR_941604.1:n.2703C>A
NM_001330578.1:c.2250C>A	NP_001317507.1:p.Gly750=
NM_001330579.1:c.2232C>A	NP_001317508.1:p.Gly744=
XM_005266424.4:c.2388C>A	XP_005266481.1:p.Gly796=
XM_005266430.4:c.2484C>A	XP_005266487.1:p.Gly828=
XM_005266431.4:c.2448C>A	XP_005266488.1:p.Gly816=
XM_006719837.3:c.2388C>A	XP_006719900.1:p.Gly796=
XM_011535117.3:c.2388C>A	XP_011533419.1:p.Gly796=
XM_017020627.1:c.2388C>A	XP_016876116.1:p.Gly796=
NM_000053.4:c.2484C>A MANE Select	NP_000044.2:p.Gly828=
NM_001005918.3:c.1998C>A	NP_001005918.1:p.Gly666=
NM_001330579.2:c.2232C>A	NP_001317508.1:p.Gly744=
NM_001243182.2:c.2151C>A	NP_001230111.1:p.Gly717=
NM_001330578.2:c.2250C>A	NP_001317507.1:p.Gly750=