Canonical Allele Identifier: CA388021125

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511487T>C (hg19) ; chr13:g.51937351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937351T>C , CM000675.2:g.51937351T>C	GRCh38
NC_000013.10:g.52511487T>C , CM000675.1:g.52511487T>C	GRCh37
NC_000013.9:g.51409488T>C	NCBI36
NG_008806.1:g.79144A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1596A>G	ENSP00000489512.2:n.*1596A>G
ENST00000673864.2:c.*2690A>G	ENSP00000501045.2:n.*2690A>G
ENST00000674147.2:c.3325A>G	ENSP00000500964.2:p.Arg1109Gly
ENST00000242839.10:c.3946A>G MANE Select	ENSP00000242839.5:p.Arg1316Gly
ENST00000344297.9:c.3325A>G	ENSP00000342559.5:p.Arg1109Gly
ENST00000400366.6:c.3613A>G	ENSP00000383217.3:p.Arg1205Gly
ENST00000448424.7:c.3694A>G	ENSP00000416738.3:p.Arg1232Gly
ENST00000673696.1:n.1269A>G
ENST00000673772.1:c.3712A>G	ENSP00000501168.1:p.Arg1238Gly
ENST00000673867.1:n.4085A>G
ENST00000673923.1:n.812A>G
ENST00000674147.1:c.2881A>G	ENSP00000500964.1:p.Arg961Gly
ENST00000242839.8:c.3946A>G	ENSP00000242839.4:p.Arg1316Gly
ENST00000344297.8:c.3325A>G	ENSP00000342559.5:p.Arg1109Gly
ENST00000400366.5:c.3613A>G	ENSP00000383217.3:p.Arg1205Gly
ENST00000400370.8:c.2656A>G	ENSP00000383221.3:p.Arg886Gly
ENST00000418097.7:c.3751A>G	ENSP00000393343.2:p.Arg1251Gly
ENST00000448424.6:c.3712A>G	ENSP00000416738.2:p.Arg1238Gly
ENST00000634296.1:c.1724A>G
ENST00000634308.1:c.*1047A>G	ENSP00000489234.1:n.*1047A>G
ENST00000634620.1:n.4690A>G
ENST00000634810.1:n.3291A>G
ENST00000634844.1:c.3802A>G	ENSP00000489398.1:p.Arg1268Gly
NM_000053.3:c.3946A>G	NP_000044.2:p.Arg1316Gly
NM_001005918.2:c.3325A>G	NP_001005918.1:p.Arg1109Gly
NM_001243182.1:c.3613A>G	NP_001230111.1:p.Arg1205Gly
XM_005266423.2:c.3850A>G	XP_005266480.1:p.Arg1284Gly
XM_005266424.3:c.3850A>G	XP_005266481.1:p.Arg1284Gly
XM_005266427.2:c.3712A>G	XP_005266484.1:p.Arg1238Gly
XM_005266428.1:c.3694A>G	XP_005266485.1:p.Arg1232Gly
XM_005266430.3:c.3946A>G	XP_005266487.1:p.Arg1316Gly
XM_005266431.2:c.3910A>G	XP_005266488.1:p.Arg1304Gly
XM_005266432.2:c.3460A>G	XP_005266489.1:p.Arg1154Gly
XM_006719837.2:c.3850A>G	XP_006719900.1:p.Arg1284Gly
XM_006719838.1:c.1762A>G	XP_006719901.1:p.Arg588Gly
XM_006719839.1:c.1579A>G	XP_006719902.1:p.Arg527Gly
XM_011535117.1:c.3850A>G	XP_011533419.1:p.Arg1284Gly
XM_011535118.1:c.3811A>G	XP_011533420.1:p.Arg1271Gly
XM_011535119.1:c.3763A>G	XP_011533421.1:p.Arg1255Gly
XM_011535120.1:c.3532A>G	XP_011533422.1:p.Arg1178Gly
XM_011535121.1:c.3433A>G	XP_011533423.1:p.Arg1145Gly
XM_011535122.1:c.2614A>G	XP_011533424.1:p.Arg872Gly
XR_941601.1:n.4165A>G
XR_941602.1:n.4165A>G
XR_941603.1:n.4165A>G
XR_941604.1:n.4165A>G
NM_001330578.1:c.3712A>G	NP_001317507.1:p.Arg1238Gly
NM_001330579.1:c.3694A>G	NP_001317508.1:p.Arg1232Gly
XM_005266424.4:c.3850A>G	XP_005266481.1:p.Arg1284Gly
XM_005266430.4:c.3946A>G	XP_005266487.1:p.Arg1316Gly
XM_005266431.4:c.3910A>G	XP_005266488.1:p.Arg1304Gly
XM_006719837.3:c.3850A>G	XP_006719900.1:p.Arg1284Gly
XM_011535117.3:c.3850A>G	XP_011533419.1:p.Arg1284Gly
XM_017020627.1:c.3850A>G	XP_016876116.1:p.Arg1284Gly
NM_000053.4:c.3946A>G MANE Select	NP_000044.2:p.Arg1316Gly
NM_001005918.3:c.3325A>G	NP_001005918.1:p.Arg1109Gly
NM_001330579.2:c.3694A>G	NP_001317508.1:p.Arg1232Gly
NM_001243182.2:c.3613A>G	NP_001230111.1:p.Arg1205Gly
NM_001330578.2:c.3712A>G	NP_001317507.1:p.Arg1238Gly