Canonical Allele Identifier: CA388026398

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515284G>C (hg19) ; chr13:g.51941148G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941148G>C , CM000675.2:g.51941148G>C	GRCh38
NC_000013.10:g.52515284G>C , CM000675.1:g.52515284G>C	GRCh37
NC_000013.9:g.51413285G>C	NCBI36
NG_008806.1:g.75347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1139C>G	ENSP00000489512.2:n.*1139C>G
ENST00000673864.2:c.*2233C>G	ENSP00000501045.2:n.*2233C>G
ENST00000674147.2:c.2868C>G	ENSP00000500964.2:p.Ser956Arg
ENST00000242839.10:c.3489C>G MANE Select	ENSP00000242839.5:p.Ser1163Arg
ENST00000344297.9:c.2868C>G	ENSP00000342559.5:p.Ser956Arg
ENST00000400366.6:c.3156C>G	ENSP00000383217.3:p.Ser1052Arg
ENST00000448424.7:c.3237C>G	ENSP00000416738.3:p.Ser1079Arg
ENST00000673772.1:c.3255C>G	ENSP00000501168.1:p.Ser1085Arg
ENST00000673867.1:n.3628C>G
ENST00000674126.1:n.3852C>G
ENST00000674147.1:c.2424C>G	ENSP00000500964.1:p.Ser808Arg
ENST00000242839.8:c.3489C>G	ENSP00000242839.4:p.Ser1163Arg
ENST00000344297.8:c.2868C>G	ENSP00000342559.5:p.Ser956Arg
ENST00000400366.5:c.3156C>G	ENSP00000383217.3:p.Ser1052Arg
ENST00000400370.8:c.2199C>G	ENSP00000383221.3:p.Ser733Arg
ENST00000418097.7:c.3294C>G	ENSP00000393343.2:p.Ser1098Arg
ENST00000448424.6:c.3255C>G	ENSP00000416738.2:p.Ser1085Arg
ENST00000634296.1:c.1267C>G
ENST00000634308.1:c.*590C>G	ENSP00000489234.1:n.*590C>G
ENST00000634620.1:n.4233C>G
ENST00000634810.1:n.2834C>G
ENST00000634844.1:c.3345C>G	ENSP00000489398.1:p.Ser1115Arg
NM_000053.3:c.3489C>G	NP_000044.2:p.Ser1163Arg
NM_001005918.2:c.2868C>G	NP_001005918.1:p.Ser956Arg
NM_001243182.1:c.3156C>G	NP_001230111.1:p.Ser1052Arg
XM_005266423.2:c.3393C>G	XP_005266480.1:p.Ser1131Arg
XM_005266424.3:c.3393C>G	XP_005266481.1:p.Ser1131Arg
XM_005266427.2:c.3255C>G	XP_005266484.1:p.Ser1085Arg
XM_005266428.1:c.3237C>G	XP_005266485.1:p.Ser1079Arg
XM_005266430.3:c.3489C>G	XP_005266487.1:p.Ser1163Arg
XM_005266431.2:c.3453C>G	XP_005266488.1:p.Ser1151Arg
XM_005266432.2:c.3003C>G	XP_005266489.1:p.Ser1001Arg
XM_006719837.2:c.3393C>G	XP_006719900.1:p.Ser1131Arg
XM_006719838.1:c.1305C>G	XP_006719901.1:p.Ser435Arg
XM_006719839.1:c.1122C>G	XP_006719902.1:p.Ser374Arg
XM_011535117.1:c.3393C>G	XP_011533419.1:p.Ser1131Arg
XM_011535118.1:c.3354C>G	XP_011533420.1:p.Ser1118Arg
XM_011535119.1:c.3306C>G	XP_011533421.1:p.Ser1102Arg
XM_011535120.1:c.3075C>G	XP_011533422.1:p.Ser1025Arg
XM_011535121.1:c.2976C>G	XP_011533423.1:p.Ser992Arg
XM_011535122.1:c.2157C>G	XP_011533424.1:p.Ser719Arg
XR_941601.1:n.3708C>G
XR_941602.1:n.3708C>G
XR_941603.1:n.3708C>G
XR_941604.1:n.3708C>G
NM_001330578.1:c.3255C>G	NP_001317507.1:p.Ser1085Arg
NM_001330579.1:c.3237C>G	NP_001317508.1:p.Ser1079Arg
XM_005266424.4:c.3393C>G	XP_005266481.1:p.Ser1131Arg
XM_005266430.4:c.3489C>G	XP_005266487.1:p.Ser1163Arg
XM_005266431.4:c.3453C>G	XP_005266488.1:p.Ser1151Arg
XM_006719837.3:c.3393C>G	XP_006719900.1:p.Ser1131Arg
XM_011535117.3:c.3393C>G	XP_011533419.1:p.Ser1131Arg
XM_017020627.1:c.3393C>G	XP_016876116.1:p.Ser1131Arg
NM_000053.4:c.3489C>G MANE Select	NP_000044.2:p.Ser1163Arg
NM_001005918.3:c.2868C>G	NP_001005918.1:p.Ser956Arg
NM_001330579.2:c.3237C>G	NP_001317508.1:p.Ser1079Arg
NM_001243182.2:c.3156C>G	NP_001230111.1:p.Ser1052Arg
NM_001330578.2:c.3255C>G	NP_001317507.1:p.Ser1085Arg