Canonical Allele Identifier: CA388028531

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516633C>G (hg19) ; chr13:g.51942497C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942497C>G , CM000675.2:g.51942497C>G	GRCh38
NC_000013.10:g.52516633C>G , CM000675.1:g.52516633C>G	GRCh37
NC_000013.9:g.51414634C>G	NCBI36
NG_008806.1:g.73998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*951G>C	ENSP00000489512.2:n.*951G>C
ENST00000673864.2:c.*2045G>C	ENSP00000501045.2:n.*2045G>C
ENST00000674147.2:c.2680G>C	ENSP00000500964.2:p.Gly894Arg
ENST00000242839.10:c.3301G>C MANE Select	ENSP00000242839.5:p.Gly1101Arg
ENST00000344297.9:c.2680G>C	ENSP00000342559.5:p.Gly894Arg
ENST00000400366.6:c.2968G>C	ENSP00000383217.3:p.Gly990Arg
ENST00000448424.7:c.3049G>C	ENSP00000416738.3:p.Gly1017Arg
ENST00000673772.1:c.3067G>C	ENSP00000501168.1:p.Gly1023Arg
ENST00000673867.1:n.3440G>C
ENST00000674126.1:n.3664G>C
ENST00000674147.1:c.2236G>C	ENSP00000500964.1:p.Gly746Arg
ENST00000242839.8:c.3301G>C	ENSP00000242839.4:p.Gly1101Arg
ENST00000344297.8:c.2680G>C	ENSP00000342559.5:p.Gly894Arg
ENST00000400366.5:c.2968G>C	ENSP00000383217.3:p.Gly990Arg
ENST00000400370.8:c.2011G>C	ENSP00000383221.3:p.Gly671Arg
ENST00000418097.7:c.3106G>C	ENSP00000393343.2:p.Gly1036Arg
ENST00000448424.6:c.3067G>C	ENSP00000416738.2:p.Gly1023Arg
ENST00000634296.1:c.1079G>C
ENST00000634308.1:c.*402G>C	ENSP00000489234.1:n.*402G>C
ENST00000634620.1:n.4045G>C
ENST00000634810.1:n.2646G>C
ENST00000634844.1:c.3157G>C	ENSP00000489398.1:p.Gly1053Arg
NM_000053.3:c.3301G>C	NP_000044.2:p.Gly1101Arg
NM_001005918.2:c.2680G>C	NP_001005918.1:p.Gly894Arg
NM_001243182.1:c.2968G>C	NP_001230111.1:p.Gly990Arg
XM_005266423.2:c.3205G>C	XP_005266480.1:p.Gly1069Arg
XM_005266424.3:c.3205G>C	XP_005266481.1:p.Gly1069Arg
XM_005266427.2:c.3067G>C	XP_005266484.1:p.Gly1023Arg
XM_005266428.1:c.3049G>C	XP_005266485.1:p.Gly1017Arg
XM_005266430.3:c.3301G>C	XP_005266487.1:p.Gly1101Arg
XM_005266431.2:c.3265G>C	XP_005266488.1:p.Gly1089Arg
XM_005266432.2:c.2815G>C	XP_005266489.1:p.Gly939Arg
XM_006719837.2:c.3205G>C	XP_006719900.1:p.Gly1069Arg
XM_006719838.1:c.1117G>C	XP_006719901.1:p.Gly373Arg
XM_006719839.1:c.934G>C	XP_006719902.1:p.Gly312Arg
XM_011535117.1:c.3205G>C	XP_011533419.1:p.Gly1069Arg
XM_011535118.1:c.3166G>C	XP_011533420.1:p.Gly1056Arg
XM_011535119.1:c.3118G>C	XP_011533421.1:p.Gly1040Arg
XM_011535120.1:c.2887G>C	XP_011533422.1:p.Gly963Arg
XM_011535121.1:c.2788G>C	XP_011533423.1:p.Gly930Arg
XM_011535122.1:c.1969G>C	XP_011533424.1:p.Gly657Arg
XR_941601.1:n.3520G>C
XR_941602.1:n.3520G>C
XR_941603.1:n.3520G>C
XR_941604.1:n.3520G>C
NM_001330578.1:c.3067G>C	NP_001317507.1:p.Gly1023Arg
NM_001330579.1:c.3049G>C	NP_001317508.1:p.Gly1017Arg
XM_005266424.4:c.3205G>C	XP_005266481.1:p.Gly1069Arg
XM_005266430.4:c.3301G>C	XP_005266487.1:p.Gly1101Arg
XM_005266431.4:c.3265G>C	XP_005266488.1:p.Gly1089Arg
XM_006719837.3:c.3205G>C	XP_006719900.1:p.Gly1069Arg
XM_011535117.3:c.3205G>C	XP_011533419.1:p.Gly1069Arg
XM_017020627.1:c.3205G>C	XP_016876116.1:p.Gly1069Arg
NM_000053.4:c.3301G>C MANE Select	NP_000044.2:p.Gly1101Arg
NM_001005918.3:c.2680G>C	NP_001005918.1:p.Gly894Arg
NM_001330579.2:c.3049G>C	NP_001317508.1:p.Gly1017Arg
NM_001243182.2:c.2968G>C	NP_001230111.1:p.Gly990Arg
NM_001330578.2:c.3067G>C	NP_001317507.1:p.Gly1023Arg