Canonical Allele Identifier: CA388026620

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515322G>T (hg19) ; chr13:g.51941186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941186G>T , CM000675.2:g.51941186G>T	GRCh38
NC_000013.10:g.52515322G>T , CM000675.1:g.52515322G>T	GRCh37
NC_000013.9:g.51413323G>T	NCBI36
NG_008806.1:g.75309C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1101C>A	ENSP00000489512.2:n.*1101C>A
ENST00000673864.2:c.*2195C>A	ENSP00000501045.2:n.*2195C>A
ENST00000674147.2:c.2830C>A	ENSP00000500964.2:p.Arg944Ser
ENST00000242839.10:c.3451C>A MANE Select	ENSP00000242839.5:p.Arg1151Ser
ENST00000344297.9:c.2830C>A	ENSP00000342559.5:p.Arg944Ser
ENST00000400366.6:c.3118C>A	ENSP00000383217.3:p.Arg1040Ser
ENST00000448424.7:c.3199C>A	ENSP00000416738.3:p.Arg1067Ser
ENST00000673772.1:c.3217C>A	ENSP00000501168.1:p.Arg1073Ser
ENST00000673867.1:n.3590C>A
ENST00000674126.1:n.3814C>A
ENST00000674147.1:c.2386C>A	ENSP00000500964.1:p.Arg796Ser
ENST00000242839.8:c.3451C>A	ENSP00000242839.4:p.Arg1151Ser
ENST00000344297.8:c.2830C>A	ENSP00000342559.5:p.Arg944Ser
ENST00000400366.5:c.3118C>A	ENSP00000383217.3:p.Arg1040Ser
ENST00000400370.8:c.2161C>A	ENSP00000383221.3:p.Arg721Ser
ENST00000418097.7:c.3256C>A	ENSP00000393343.2:p.Arg1086Ser
ENST00000448424.6:c.3217C>A	ENSP00000416738.2:p.Arg1073Ser
ENST00000634296.1:c.1229C>A
ENST00000634308.1:c.*552C>A	ENSP00000489234.1:n.*552C>A
ENST00000634620.1:n.4195C>A
ENST00000634810.1:n.2796C>A
ENST00000634844.1:c.3307C>A	ENSP00000489398.1:p.Arg1103Ser
NM_000053.3:c.3451C>A	NP_000044.2:p.Arg1151Ser
NM_001005918.2:c.2830C>A	NP_001005918.1:p.Arg944Ser
NM_001243182.1:c.3118C>A	NP_001230111.1:p.Arg1040Ser
XM_005266423.2:c.3355C>A	XP_005266480.1:p.Arg1119Ser
XM_005266424.3:c.3355C>A	XP_005266481.1:p.Arg1119Ser
XM_005266427.2:c.3217C>A	XP_005266484.1:p.Arg1073Ser
XM_005266428.1:c.3199C>A	XP_005266485.1:p.Arg1067Ser
XM_005266430.3:c.3451C>A	XP_005266487.1:p.Arg1151Ser
XM_005266431.2:c.3415C>A	XP_005266488.1:p.Arg1139Ser
XM_005266432.2:c.2965C>A	XP_005266489.1:p.Arg989Ser
XM_006719837.2:c.3355C>A	XP_006719900.1:p.Arg1119Ser
XM_006719838.1:c.1267C>A	XP_006719901.1:p.Arg423Ser
XM_006719839.1:c.1084C>A	XP_006719902.1:p.Arg362Ser
XM_011535117.1:c.3355C>A	XP_011533419.1:p.Arg1119Ser
XM_011535118.1:c.3316C>A	XP_011533420.1:p.Arg1106Ser
XM_011535119.1:c.3268C>A	XP_011533421.1:p.Arg1090Ser
XM_011535120.1:c.3037C>A	XP_011533422.1:p.Arg1013Ser
XM_011535121.1:c.2938C>A	XP_011533423.1:p.Arg980Ser
XM_011535122.1:c.2119C>A	XP_011533424.1:p.Arg707Ser
XR_941601.1:n.3670C>A
XR_941602.1:n.3670C>A
XR_941603.1:n.3670C>A
XR_941604.1:n.3670C>A
NM_001330578.1:c.3217C>A	NP_001317507.1:p.Arg1073Ser
NM_001330579.1:c.3199C>A	NP_001317508.1:p.Arg1067Ser
XM_005266424.4:c.3355C>A	XP_005266481.1:p.Arg1119Ser
XM_005266430.4:c.3451C>A	XP_005266487.1:p.Arg1151Ser
XM_005266431.4:c.3415C>A	XP_005266488.1:p.Arg1139Ser
XM_006719837.3:c.3355C>A	XP_006719900.1:p.Arg1119Ser
XM_011535117.3:c.3355C>A	XP_011533419.1:p.Arg1119Ser
XM_017020627.1:c.3355C>A	XP_016876116.1:p.Arg1119Ser
NM_000053.4:c.3451C>A MANE Select	NP_000044.2:p.Arg1151Ser
NM_001005918.3:c.2830C>A	NP_001005918.1:p.Arg944Ser
NM_001330579.2:c.3199C>A	NP_001317508.1:p.Arg1067Ser
NM_001243182.2:c.3118C>A	NP_001230111.1:p.Arg1040Ser
NM_001330578.2:c.3217C>A	NP_001317507.1:p.Arg1073Ser