Canonical Allele Identifier: CA388032498

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946451-C-T
• MyVariant Identifiers: chr13:g.52520587C>T (hg19) ; chr13:g.51946451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946451C>T , CM000675.2:g.51946451C>T	GRCh38
NC_000013.10:g.52520587C>T , CM000675.1:g.52520587C>T	GRCh37
NC_000013.9:g.51418588C>T	NCBI36
NG_008806.1:g.70044G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*726G>A	ENSP00000489512.2:n.*726G>A
ENST00000673864.2:c.*1637G>A	ENSP00000501045.2:n.*1637G>A
ENST00000674147.2:c.2272G>A	ENSP00000500964.2:p.Glu758Lys
ENST00000242839.10:c.2893G>A MANE Select	ENSP00000242839.5:p.Glu965Lys
ENST00000344297.9:c.2272G>A	ENSP00000342559.5:p.Glu758Lys
ENST00000400366.6:c.2560G>A	ENSP00000383217.3:p.Glu854Lys
ENST00000448424.7:c.2641G>A	ENSP00000416738.3:p.Glu881Lys
ENST00000673772.1:c.2659G>A	ENSP00000501168.1:p.Glu887Lys
ENST00000673867.1:n.1040G>A
ENST00000674126.1:n.3256G>A
ENST00000674147.1:c.1828G>A	ENSP00000500964.1:p.Glu610Lys
ENST00000242839.8:c.2893G>A	ENSP00000242839.4:p.Glu965Lys
ENST00000344297.8:c.2272G>A	ENSP00000342559.5:p.Glu758Lys
ENST00000400366.5:c.2560G>A	ENSP00000383217.3:p.Glu854Lys
ENST00000400370.8:c.1603G>A	ENSP00000383221.3:p.Glu535Lys
ENST00000418097.7:c.2866-2160G>A	ENSP00000393343.2:n.2866-2160G>A
ENST00000448424.6:c.2659G>A	ENSP00000416738.2:p.Glu887Lys
ENST00000466629.1:n.113G>A
ENST00000634296.1:c.854G>A
ENST00000634308.1:c.2679G>A	ENSP00000489234.1:p.Gln893=
ENST00000634620.1:n.3637G>A
ENST00000634810.1:n.2238G>A
ENST00000634844.1:c.2749G>A	ENSP00000489398.1:p.Glu917Lys
ENST00000635406.1:n.239G>A
NM_000053.3:c.2893G>A	NP_000044.2:p.Glu965Lys
NM_001005918.2:c.2272G>A	NP_001005918.1:p.Glu758Lys
NM_001243182.1:c.2560G>A	NP_001230111.1:p.Glu854Lys
XM_005266423.2:c.2797G>A	XP_005266480.1:p.Glu933Lys
XM_005266424.3:c.2797G>A	XP_005266481.1:p.Glu933Lys
XM_005266427.2:c.2659G>A	XP_005266484.1:p.Glu887Lys
XM_005266428.1:c.2641G>A	XP_005266485.1:p.Glu881Lys
XM_005266430.3:c.2893G>A	XP_005266487.1:p.Glu965Lys
XM_005266431.2:c.2857G>A	XP_005266488.1:p.Glu953Lys
XM_005266432.2:c.2407G>A	XP_005266489.1:p.Glu803Lys
XM_006719837.2:c.2797G>A	XP_006719900.1:p.Glu933Lys
XM_006719838.1:c.709G>A	XP_006719901.1:p.Glu237Lys
XM_006719839.1:c.709G>A	XP_006719902.1:p.Glu237Lys
XM_011535117.1:c.2797G>A	XP_011533419.1:p.Glu933Lys
XM_011535118.1:c.2758G>A	XP_011533420.1:p.Glu920Lys
XM_011535119.1:c.2893G>A	XP_011533421.1:p.Glu965Lys
XM_011535120.1:c.2479G>A	XP_011533422.1:p.Glu827Lys
XM_011535121.1:c.2730+3556G>A	XP_011533423.1:n.2730+3556G>A
XM_011535122.1:c.1561G>A	XP_011533424.1:p.Glu521Lys
XR_941601.1:n.3112G>A
XR_941602.1:n.3112G>A
XR_941603.1:n.3112G>A
XR_941604.1:n.3112G>A
NM_001330578.1:c.2659G>A	NP_001317507.1:p.Glu887Lys
NM_001330579.1:c.2641G>A	NP_001317508.1:p.Glu881Lys
XM_005266424.4:c.2797G>A	XP_005266481.1:p.Glu933Lys
XM_005266430.4:c.2893G>A	XP_005266487.1:p.Glu965Lys
XM_005266431.4:c.2857G>A	XP_005266488.1:p.Glu953Lys
XM_006719837.3:c.2797G>A	XP_006719900.1:p.Glu933Lys
XM_011535117.3:c.2797G>A	XP_011533419.1:p.Glu933Lys
XM_017020627.1:c.2797G>A	XP_016876116.1:p.Glu933Lys
NM_000053.4:c.2893G>A MANE Select	NP_000044.2:p.Glu965Lys
NM_001005918.3:c.2272G>A	NP_001005918.1:p.Glu758Lys
NM_001330579.2:c.2641G>A	NP_001317508.1:p.Glu881Lys
NM_001243182.2:c.2560G>A	NP_001230111.1:p.Glu854Lys
NM_001330578.2:c.2659G>A	NP_001317507.1:p.Glu887Lys