Canonical Allele Identifier: CA483893619

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513202T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939066T>C , CM000675.2:g.51939066T>C	GRCh38
NC_000013.10:g.52513202T>C , CM000675.1:g.52513202T>C	GRCh37
NC_000013.9:g.51411203T>C	NCBI36
NG_008806.1:g.77429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1334A>G	ENSP00000489512.2:n.*1334A>G
ENST00000673864.2:c.*2428A>G	ENSP00000501045.2:n.*2428A>G
ENST00000674147.2:c.3063A>G	ENSP00000500964.2:p.Arg1021=
ENST00000242839.10:c.3684A>G MANE Select	ENSP00000242839.5:p.Arg1228=
ENST00000344297.9:c.3063A>G	ENSP00000342559.5:p.Arg1021=
ENST00000400366.6:c.3351A>G	ENSP00000383217.3:p.Arg1117=
ENST00000448424.7:c.3432A>G	ENSP00000416738.3:p.Arg1144=
ENST00000673696.1:n.925A>G
ENST00000673772.1:c.3450A>G	ENSP00000501168.1:p.Arg1150=
ENST00000673867.1:n.3823A>G
ENST00000673923.1:n.550A>G
ENST00000674147.1:c.2619A>G	ENSP00000500964.1:p.Arg873=
ENST00000242839.8:c.3684A>G	ENSP00000242839.4:p.Arg1228=
ENST00000344297.8:c.3063A>G	ENSP00000342559.5:p.Arg1021=
ENST00000400366.5:c.3351A>G	ENSP00000383217.3:p.Arg1117=
ENST00000400370.8:c.2394A>G	ENSP00000383221.3:p.Arg798=
ENST00000418097.7:c.3489A>G	ENSP00000393343.2:p.Arg1163=
ENST00000448424.6:c.3450A>G	ENSP00000416738.2:p.Arg1150=
ENST00000634296.1:c.1462A>G
ENST00000634308.1:c.*785A>G	ENSP00000489234.1:n.*785A>G
ENST00000634620.1:n.4428A>G
ENST00000634810.1:n.3029A>G
ENST00000634844.1:c.3540A>G	ENSP00000489398.1:p.Arg1180=
NM_000053.3:c.3684A>G	NP_000044.2:p.Arg1228=
NM_001005918.2:c.3063A>G	NP_001005918.1:p.Arg1021=
NM_001243182.1:c.3351A>G	NP_001230111.1:p.Arg1117=
XM_005266423.2:c.3588A>G	XP_005266480.1:p.Arg1196=
XM_005266424.3:c.3588A>G	XP_005266481.1:p.Arg1196=
XM_005266427.2:c.3450A>G	XP_005266484.1:p.Arg1150=
XM_005266428.1:c.3432A>G	XP_005266485.1:p.Arg1144=
XM_005266430.3:c.3684A>G	XP_005266487.1:p.Arg1228=
XM_005266431.2:c.3648A>G	XP_005266488.1:p.Arg1216=
XM_005266432.2:c.3198A>G	XP_005266489.1:p.Arg1066=
XM_006719837.2:c.3588A>G	XP_006719900.1:p.Arg1196=
XM_006719838.1:c.1500A>G	XP_006719901.1:p.Arg500=
XM_006719839.1:c.1317A>G	XP_006719902.1:p.Arg439=
XM_011535117.1:c.3588A>G	XP_011533419.1:p.Arg1196=
XM_011535118.1:c.3549A>G	XP_011533420.1:p.Arg1183=
XM_011535119.1:c.3501A>G	XP_011533421.1:p.Arg1167=
XM_011535120.1:c.3270A>G	XP_011533422.1:p.Arg1090=
XM_011535121.1:c.3171A>G	XP_011533423.1:p.Arg1057=
XM_011535122.1:c.2352A>G	XP_011533424.1:p.Arg784=
XR_941601.1:n.3903A>G
XR_941602.1:n.3903A>G
XR_941603.1:n.3903A>G
XR_941604.1:n.3903A>G
NM_001330578.1:c.3450A>G	NP_001317507.1:p.Arg1150=
NM_001330579.1:c.3432A>G	NP_001317508.1:p.Arg1144=
XM_005266424.4:c.3588A>G	XP_005266481.1:p.Arg1196=
XM_005266430.4:c.3684A>G	XP_005266487.1:p.Arg1228=
XM_005266431.4:c.3648A>G	XP_005266488.1:p.Arg1216=
XM_006719837.3:c.3588A>G	XP_006719900.1:p.Arg1196=
XM_011535117.3:c.3588A>G	XP_011533419.1:p.Arg1196=
XM_017020627.1:c.3588A>G	XP_016876116.1:p.Arg1196=
NM_000053.4:c.3684A>G MANE Select	NP_000044.2:p.Arg1228=
NM_001005918.3:c.3063A>G	NP_001005918.1:p.Arg1021=
NM_001330579.2:c.3432A>G	NP_001317508.1:p.Arg1144=
NM_001243182.2:c.3351A>G	NP_001230111.1:p.Arg1117=
NM_001330578.2:c.3450A>G	NP_001317507.1:p.Arg1150=