Canonical Allele Identifier: CA388026777

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515348T>C (hg19) ; chr13:g.51941212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941212T>C , CM000675.2:g.51941212T>C	GRCh38
NC_000013.10:g.52515348T>C , CM000675.1:g.52515348T>C	GRCh37
NC_000013.9:g.51413349T>C	NCBI36
NG_008806.1:g.75283A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1075A>G	ENSP00000489512.2:n.*1075A>G
ENST00000673864.2:c.*2169A>G	ENSP00000501045.2:n.*2169A>G
ENST00000674147.2:c.2804A>G	ENSP00000500964.2:p.Gln935Arg
ENST00000242839.10:c.3425A>G MANE Select	ENSP00000242839.5:p.Gln1142Arg
ENST00000344297.9:c.2804A>G	ENSP00000342559.5:p.Gln935Arg
ENST00000400366.6:c.3092A>G	ENSP00000383217.3:p.Gln1031Arg
ENST00000448424.7:c.3173A>G	ENSP00000416738.3:p.Gln1058Arg
ENST00000673772.1:c.3191A>G	ENSP00000501168.1:p.Gln1064Arg
ENST00000673867.1:n.3564A>G
ENST00000674126.1:n.3788A>G
ENST00000674147.1:c.2360A>G	ENSP00000500964.1:p.Gln787Arg
ENST00000242839.8:c.3425A>G	ENSP00000242839.4:p.Gln1142Arg
ENST00000344297.8:c.2804A>G	ENSP00000342559.5:p.Gln935Arg
ENST00000400366.5:c.3092A>G	ENSP00000383217.3:p.Gln1031Arg
ENST00000400370.8:c.2135A>G	ENSP00000383221.3:p.Gln712Arg
ENST00000418097.7:c.3230A>G	ENSP00000393343.2:p.Gln1077Arg
ENST00000448424.6:c.3191A>G	ENSP00000416738.2:p.Gln1064Arg
ENST00000634296.1:c.1203A>G
ENST00000634308.1:c.*526A>G	ENSP00000489234.1:n.*526A>G
ENST00000634620.1:n.4169A>G
ENST00000634810.1:n.2770A>G
ENST00000634844.1:c.3281A>G	ENSP00000489398.1:p.Gln1094Arg
NM_000053.3:c.3425A>G	NP_000044.2:p.Gln1142Arg
NM_001005918.2:c.2804A>G	NP_001005918.1:p.Gln935Arg
NM_001243182.1:c.3092A>G	NP_001230111.1:p.Gln1031Arg
XM_005266423.2:c.3329A>G	XP_005266480.1:p.Gln1110Arg
XM_005266424.3:c.3329A>G	XP_005266481.1:p.Gln1110Arg
XM_005266427.2:c.3191A>G	XP_005266484.1:p.Gln1064Arg
XM_005266428.1:c.3173A>G	XP_005266485.1:p.Gln1058Arg
XM_005266430.3:c.3425A>G	XP_005266487.1:p.Gln1142Arg
XM_005266431.2:c.3389A>G	XP_005266488.1:p.Gln1130Arg
XM_005266432.2:c.2939A>G	XP_005266489.1:p.Gln980Arg
XM_006719837.2:c.3329A>G	XP_006719900.1:p.Gln1110Arg
XM_006719838.1:c.1241A>G	XP_006719901.1:p.Gln414Arg
XM_006719839.1:c.1058A>G	XP_006719902.1:p.Gln353Arg
XM_011535117.1:c.3329A>G	XP_011533419.1:p.Gln1110Arg
XM_011535118.1:c.3290A>G	XP_011533420.1:p.Gln1097Arg
XM_011535119.1:c.3242A>G	XP_011533421.1:p.Gln1081Arg
XM_011535120.1:c.3011A>G	XP_011533422.1:p.Gln1004Arg
XM_011535121.1:c.2912A>G	XP_011533423.1:p.Gln971Arg
XM_011535122.1:c.2093A>G	XP_011533424.1:p.Gln698Arg
XR_941601.1:n.3644A>G
XR_941602.1:n.3644A>G
XR_941603.1:n.3644A>G
XR_941604.1:n.3644A>G
NM_001330578.1:c.3191A>G	NP_001317507.1:p.Gln1064Arg
NM_001330579.1:c.3173A>G	NP_001317508.1:p.Gln1058Arg
XM_005266424.4:c.3329A>G	XP_005266481.1:p.Gln1110Arg
XM_005266430.4:c.3425A>G	XP_005266487.1:p.Gln1142Arg
XM_005266431.4:c.3389A>G	XP_005266488.1:p.Gln1130Arg
XM_006719837.3:c.3329A>G	XP_006719900.1:p.Gln1110Arg
XM_011535117.3:c.3329A>G	XP_011533419.1:p.Gln1110Arg
XM_017020627.1:c.3329A>G	XP_016876116.1:p.Gln1110Arg
NM_000053.4:c.3425A>G MANE Select	NP_000044.2:p.Gln1142Arg
NM_001005918.3:c.2804A>G	NP_001005918.1:p.Gln935Arg
NM_001330579.2:c.3173A>G	NP_001317508.1:p.Gln1058Arg
NM_001243182.2:c.3092A>G	NP_001230111.1:p.Gln1031Arg
NM_001330578.2:c.3191A>G	NP_001317507.1:p.Gln1064Arg