Canonical Allele Identifier: CA388026539

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515309C>A (hg19) ; chr13:g.51941173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941173C>A , CM000675.2:g.51941173C>A	GRCh38
NC_000013.10:g.52515309C>A , CM000675.1:g.52515309C>A	GRCh37
NC_000013.9:g.51413310C>A	NCBI36
NG_008806.1:g.75322G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1114G>T	ENSP00000489512.2:n.*1114G>T
ENST00000673864.2:c.*2208G>T	ENSP00000501045.2:n.*2208G>T
ENST00000674147.2:c.2843G>T	ENSP00000500964.2:p.Arg948Met
ENST00000242839.10:c.3464G>T MANE Select	ENSP00000242839.5:p.Arg1155Met
ENST00000344297.9:c.2843G>T	ENSP00000342559.5:p.Arg948Met
ENST00000400366.6:c.3131G>T	ENSP00000383217.3:p.Arg1044Met
ENST00000448424.7:c.3212G>T	ENSP00000416738.3:p.Arg1071Met
ENST00000673772.1:c.3230G>T	ENSP00000501168.1:p.Arg1077Met
ENST00000673867.1:n.3603G>T
ENST00000674126.1:n.3827G>T
ENST00000674147.1:c.2399G>T	ENSP00000500964.1:p.Arg800Met
ENST00000242839.8:c.3464G>T	ENSP00000242839.4:p.Arg1155Met
ENST00000344297.8:c.2843G>T	ENSP00000342559.5:p.Arg948Met
ENST00000400366.5:c.3131G>T	ENSP00000383217.3:p.Arg1044Met
ENST00000400370.8:c.2174G>T	ENSP00000383221.3:p.Arg725Met
ENST00000418097.7:c.3269G>T	ENSP00000393343.2:p.Arg1090Met
ENST00000448424.6:c.3230G>T	ENSP00000416738.2:p.Arg1077Met
ENST00000634296.1:c.1242G>T
ENST00000634308.1:c.*565G>T	ENSP00000489234.1:n.*565G>T
ENST00000634620.1:n.4208G>T
ENST00000634810.1:n.2809G>T
ENST00000634844.1:c.3320G>T	ENSP00000489398.1:p.Arg1107Met
NM_000053.3:c.3464G>T	NP_000044.2:p.Arg1155Met
NM_001005918.2:c.2843G>T	NP_001005918.1:p.Arg948Met
NM_001243182.1:c.3131G>T	NP_001230111.1:p.Arg1044Met
XM_005266423.2:c.3368G>T	XP_005266480.1:p.Arg1123Met
XM_005266424.3:c.3368G>T	XP_005266481.1:p.Arg1123Met
XM_005266427.2:c.3230G>T	XP_005266484.1:p.Arg1077Met
XM_005266428.1:c.3212G>T	XP_005266485.1:p.Arg1071Met
XM_005266430.3:c.3464G>T	XP_005266487.1:p.Arg1155Met
XM_005266431.2:c.3428G>T	XP_005266488.1:p.Arg1143Met
XM_005266432.2:c.2978G>T	XP_005266489.1:p.Arg993Met
XM_006719837.2:c.3368G>T	XP_006719900.1:p.Arg1123Met
XM_006719838.1:c.1280G>T	XP_006719901.1:p.Arg427Met
XM_006719839.1:c.1097G>T	XP_006719902.1:p.Arg366Met
XM_011535117.1:c.3368G>T	XP_011533419.1:p.Arg1123Met
XM_011535118.1:c.3329G>T	XP_011533420.1:p.Arg1110Met
XM_011535119.1:c.3281G>T	XP_011533421.1:p.Arg1094Met
XM_011535120.1:c.3050G>T	XP_011533422.1:p.Arg1017Met
XM_011535121.1:c.2951G>T	XP_011533423.1:p.Arg984Met
XM_011535122.1:c.2132G>T	XP_011533424.1:p.Arg711Met
XR_941601.1:n.3683G>T
XR_941602.1:n.3683G>T
XR_941603.1:n.3683G>T
XR_941604.1:n.3683G>T
NM_001330578.1:c.3230G>T	NP_001317507.1:p.Arg1077Met
NM_001330579.1:c.3212G>T	NP_001317508.1:p.Arg1071Met
XM_005266424.4:c.3368G>T	XP_005266481.1:p.Arg1123Met
XM_005266430.4:c.3464G>T	XP_005266487.1:p.Arg1155Met
XM_005266431.4:c.3428G>T	XP_005266488.1:p.Arg1143Met
XM_006719837.3:c.3368G>T	XP_006719900.1:p.Arg1123Met
XM_011535117.3:c.3368G>T	XP_011533419.1:p.Arg1123Met
XM_017020627.1:c.3368G>T	XP_016876116.1:p.Arg1123Met
NM_000053.4:c.3464G>T MANE Select	NP_000044.2:p.Arg1155Met
NM_001005918.3:c.2843G>T	NP_001005918.1:p.Arg948Met
NM_001330579.2:c.3212G>T	NP_001317508.1:p.Arg1071Met
NM_001243182.2:c.3131G>T	NP_001230111.1:p.Arg1044Met
NM_001330578.2:c.3230G>T	NP_001317507.1:p.Arg1077Met