Canonical Allele Identifier: CA6988670

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1084291
• ClinVar RCV Id: RCV001401267
• dbSNP Id: rs768438514
• ExAC: 13:52515269 A / T
• gnomAD v2: 13-52515269-A-T
• gnomAD v4: 13-51941133-A-T
• MyVariant Identifiers: chr13:g.52515269A>T (hg19) ; chr13:g.51941133A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941133A>T , CM000675.2:g.51941133A>T	GRCh38
NC_000013.10:g.52515269A>T , CM000675.1:g.52515269A>T	GRCh37
NC_000013.9:g.51413270A>T	NCBI36
NG_008806.1:g.75362T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1154T>A	ENSP00000489512.2:n.*1154T>A
ENST00000673864.2:c.*2248T>A	ENSP00000501045.2:n.*2248T>A
ENST00000674147.2:c.2883T>A	ENSP00000500964.2:p.Ala961=
ENST00000242839.10:c.3504T>A MANE Select	ENSP00000242839.5:p.Ala1168=
ENST00000344297.9:c.2883T>A	ENSP00000342559.5:p.Ala961=
ENST00000400366.6:c.3171T>A	ENSP00000383217.3:p.Ala1057=
ENST00000448424.7:c.3252T>A	ENSP00000416738.3:p.Ala1084=
ENST00000673772.1:c.3270T>A	ENSP00000501168.1:p.Ala1090=
ENST00000673867.1:n.3643T>A
ENST00000674126.1:n.3867T>A
ENST00000674147.1:c.2439T>A	ENSP00000500964.1:p.Ala813=
ENST00000242839.8:c.3504T>A	ENSP00000242839.4:p.Ala1168=
ENST00000344297.8:c.2883T>A	ENSP00000342559.5:p.Ala961=
ENST00000400366.5:c.3171T>A	ENSP00000383217.3:p.Ala1057=
ENST00000400370.8:c.2214T>A	ENSP00000383221.3:p.Ala738=
ENST00000418097.7:c.3309T>A	ENSP00000393343.2:p.Ala1103=
ENST00000448424.6:c.3270T>A	ENSP00000416738.2:p.Ala1090=
ENST00000634296.1:c.1282T>A
ENST00000634308.1:c.*605T>A	ENSP00000489234.1:n.*605T>A
ENST00000634620.1:n.4248T>A
ENST00000634810.1:n.2849T>A
ENST00000634844.1:c.3360T>A	ENSP00000489398.1:p.Ala1120=
NM_000053.3:c.3504T>A	NP_000044.2:p.Ala1168=
NM_001005918.2:c.2883T>A	NP_001005918.1:p.Ala961=
NM_001243182.1:c.3171T>A	NP_001230111.1:p.Ala1057=
XM_005266423.2:c.3408T>A	XP_005266480.1:p.Ala1136=
XM_005266424.3:c.3408T>A	XP_005266481.1:p.Ala1136=
XM_005266427.2:c.3270T>A	XP_005266484.1:p.Ala1090=
XM_005266428.1:c.3252T>A	XP_005266485.1:p.Ala1084=
XM_005266430.3:c.3504T>A	XP_005266487.1:p.Ala1168=
XM_005266431.2:c.3468T>A	XP_005266488.1:p.Ala1156=
XM_005266432.2:c.3018T>A	XP_005266489.1:p.Ala1006=
XM_006719837.2:c.3408T>A	XP_006719900.1:p.Ala1136=
XM_006719838.1:c.1320T>A	XP_006719901.1:p.Ala440=
XM_006719839.1:c.1137T>A	XP_006719902.1:p.Ala379=
XM_011535117.1:c.3408T>A	XP_011533419.1:p.Ala1136=
XM_011535118.1:c.3369T>A	XP_011533420.1:p.Ala1123=
XM_011535119.1:c.3321T>A	XP_011533421.1:p.Ala1107=
XM_011535120.1:c.3090T>A	XP_011533422.1:p.Ala1030=
XM_011535121.1:c.2991T>A	XP_011533423.1:p.Ala997=
XM_011535122.1:c.2172T>A	XP_011533424.1:p.Ala724=
XR_941601.1:n.3723T>A
XR_941602.1:n.3723T>A
XR_941603.1:n.3723T>A
XR_941604.1:n.3723T>A
NM_001330578.1:c.3270T>A	NP_001317507.1:p.Ala1090=
NM_001330579.1:c.3252T>A	NP_001317508.1:p.Ala1084=
XM_005266424.4:c.3408T>A	XP_005266481.1:p.Ala1136=
XM_005266430.4:c.3504T>A	XP_005266487.1:p.Ala1168=
XM_005266431.4:c.3468T>A	XP_005266488.1:p.Ala1156=
XM_006719837.3:c.3408T>A	XP_006719900.1:p.Ala1136=
XM_011535117.3:c.3408T>A	XP_011533419.1:p.Ala1136=
XM_017020627.1:c.3408T>A	XP_016876116.1:p.Ala1136=
NM_000053.4:c.3504T>A MANE Select	NP_000044.2:p.Ala1168=
NM_001005918.3:c.2883T>A	NP_001005918.1:p.Ala961=
NM_001330579.2:c.3252T>A	NP_001317508.1:p.Ala1084=
NM_001243182.2:c.3171T>A	NP_001230111.1:p.Ala1057=
NM_001330578.2:c.3270T>A	NP_001317507.1:p.Ala1090=