Canonical Allele Identifier: CA388028929

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516677T>G (hg19) ; chr13:g.51942541T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942541T>G , CM000675.2:g.51942541T>G	GRCh38
NC_000013.10:g.52516677T>G , CM000675.1:g.52516677T>G	GRCh37
NC_000013.9:g.51414678T>G	NCBI36
NG_008806.1:g.73954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*907A>C	ENSP00000489512.2:n.*907A>C
ENST00000673864.2:c.*2001A>C	ENSP00000501045.2:n.*2001A>C
ENST00000674147.2:c.2636A>C	ENSP00000500964.2:p.Glu879Ala
ENST00000242839.10:c.3257A>C MANE Select	ENSP00000242839.5:p.Glu1086Ala
ENST00000344297.9:c.2636A>C	ENSP00000342559.5:p.Glu879Ala
ENST00000400366.6:c.2924A>C	ENSP00000383217.3:p.Glu975Ala
ENST00000448424.7:c.3005A>C	ENSP00000416738.3:p.Glu1002Ala
ENST00000673772.1:c.3023A>C	ENSP00000501168.1:p.Glu1008Ala
ENST00000673867.1:n.3396A>C
ENST00000674126.1:n.3620A>C
ENST00000674147.1:c.2192A>C	ENSP00000500964.1:p.Glu731Ala
ENST00000242839.8:c.3257A>C	ENSP00000242839.4:p.Glu1086Ala
ENST00000344297.8:c.2636A>C	ENSP00000342559.5:p.Glu879Ala
ENST00000400366.5:c.2924A>C	ENSP00000383217.3:p.Glu975Ala
ENST00000400370.8:c.1967A>C	ENSP00000383221.3:p.Glu656Ala
ENST00000418097.7:c.3062A>C	ENSP00000393343.2:p.Glu1021Ala
ENST00000448424.6:c.3023A>C	ENSP00000416738.2:p.Glu1008Ala
ENST00000634296.1:c.1035A>C
ENST00000634308.1:c.*358A>C	ENSP00000489234.1:n.*358A>C
ENST00000634620.1:n.4001A>C
ENST00000634810.1:n.2602A>C
ENST00000634844.1:c.3113A>C	ENSP00000489398.1:p.Glu1038Ala
NM_000053.3:c.3257A>C	NP_000044.2:p.Glu1086Ala
NM_001005918.2:c.2636A>C	NP_001005918.1:p.Glu879Ala
NM_001243182.1:c.2924A>C	NP_001230111.1:p.Glu975Ala
XM_005266423.2:c.3161A>C	XP_005266480.1:p.Glu1054Ala
XM_005266424.3:c.3161A>C	XP_005266481.1:p.Glu1054Ala
XM_005266427.2:c.3023A>C	XP_005266484.1:p.Glu1008Ala
XM_005266428.1:c.3005A>C	XP_005266485.1:p.Glu1002Ala
XM_005266430.3:c.3257A>C	XP_005266487.1:p.Glu1086Ala
XM_005266431.2:c.3221A>C	XP_005266488.1:p.Glu1074Ala
XM_005266432.2:c.2771A>C	XP_005266489.1:p.Glu924Ala
XM_006719837.2:c.3161A>C	XP_006719900.1:p.Glu1054Ala
XM_006719838.1:c.1073A>C	XP_006719901.1:p.Glu358Ala
XM_006719839.1:c.890A>C	XP_006719902.1:p.Glu297Ala
XM_011535117.1:c.3161A>C	XP_011533419.1:p.Glu1054Ala
XM_011535118.1:c.3122A>C	XP_011533420.1:p.Glu1041Ala
XM_011535119.1:c.3074A>C	XP_011533421.1:p.Glu1025Ala
XM_011535120.1:c.2843A>C	XP_011533422.1:p.Glu948Ala
XM_011535121.1:c.2744A>C	XP_011533423.1:p.Glu915Ala
XM_011535122.1:c.1925A>C	XP_011533424.1:p.Glu642Ala
XR_941601.1:n.3476A>C
XR_941602.1:n.3476A>C
XR_941603.1:n.3476A>C
XR_941604.1:n.3476A>C
NM_001330578.1:c.3023A>C	NP_001317507.1:p.Glu1008Ala
NM_001330579.1:c.3005A>C	NP_001317508.1:p.Glu1002Ala
XM_005266424.4:c.3161A>C	XP_005266481.1:p.Glu1054Ala
XM_005266430.4:c.3257A>C	XP_005266487.1:p.Glu1086Ala
XM_005266431.4:c.3221A>C	XP_005266488.1:p.Glu1074Ala
XM_006719837.3:c.3161A>C	XP_006719900.1:p.Glu1054Ala
XM_011535117.3:c.3161A>C	XP_011533419.1:p.Glu1054Ala
XM_017020627.1:c.3161A>C	XP_016876116.1:p.Glu1054Ala
NM_000053.4:c.3257A>C MANE Select	NP_000044.2:p.Glu1086Ala
NM_001005918.3:c.2636A>C	NP_001005918.1:p.Glu879Ala
NM_001330579.2:c.3005A>C	NP_001317508.1:p.Glu1002Ala
NM_001243182.2:c.2924A>C	NP_001230111.1:p.Glu975Ala
NM_001330578.2:c.3023A>C	NP_001317507.1:p.Glu1008Ala