Canonical Allele Identifier: CA388032493

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520586T>G (hg19) ; chr13:g.51946450T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946450T>G , CM000675.2:g.51946450T>G	GRCh38
NC_000013.10:g.52520586T>G , CM000675.1:g.52520586T>G	GRCh37
NC_000013.9:g.51418587T>G	NCBI36
NG_008806.1:g.70045A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*727A>C	ENSP00000489512.2:n.*727A>C
ENST00000673864.2:c.*1638A>C	ENSP00000501045.2:n.*1638A>C
ENST00000674147.2:c.2273A>C	ENSP00000500964.2:p.Glu758Ala
ENST00000242839.10:c.2894A>C MANE Select	ENSP00000242839.5:p.Glu965Ala
ENST00000344297.9:c.2273A>C	ENSP00000342559.5:p.Glu758Ala
ENST00000400366.6:c.2561A>C	ENSP00000383217.3:p.Glu854Ala
ENST00000448424.7:c.2642A>C	ENSP00000416738.3:p.Glu881Ala
ENST00000673772.1:c.2660A>C	ENSP00000501168.1:p.Glu887Ala
ENST00000673867.1:n.1041A>C
ENST00000674126.1:n.3257A>C
ENST00000674147.1:c.1829A>C	ENSP00000500964.1:p.Glu610Ala
ENST00000242839.8:c.2894A>C	ENSP00000242839.4:p.Glu965Ala
ENST00000344297.8:c.2273A>C	ENSP00000342559.5:p.Glu758Ala
ENST00000400366.5:c.2561A>C	ENSP00000383217.3:p.Glu854Ala
ENST00000400370.8:c.1604A>C	ENSP00000383221.3:p.Glu535Ala
ENST00000418097.7:c.2866-2159A>C	ENSP00000393343.2:n.2866-2159A>C
ENST00000448424.6:c.2660A>C	ENSP00000416738.2:p.Glu887Ala
ENST00000466629.1:n.114A>C
ENST00000634296.1:c.855A>C
ENST00000634308.1:c.2680A>C	ENSP00000489234.1:p.Arg894=
ENST00000634620.1:n.3638A>C
ENST00000634810.1:n.2239A>C
ENST00000634844.1:c.2750A>C	ENSP00000489398.1:p.Glu917Ala
ENST00000635406.1:n.240A>C
NM_000053.3:c.2894A>C	NP_000044.2:p.Glu965Ala
NM_001005918.2:c.2273A>C	NP_001005918.1:p.Glu758Ala
NM_001243182.1:c.2561A>C	NP_001230111.1:p.Glu854Ala
XM_005266423.2:c.2798A>C	XP_005266480.1:p.Glu933Ala
XM_005266424.3:c.2798A>C	XP_005266481.1:p.Glu933Ala
XM_005266427.2:c.2660A>C	XP_005266484.1:p.Glu887Ala
XM_005266428.1:c.2642A>C	XP_005266485.1:p.Glu881Ala
XM_005266430.3:c.2894A>C	XP_005266487.1:p.Glu965Ala
XM_005266431.2:c.2858A>C	XP_005266488.1:p.Glu953Ala
XM_005266432.2:c.2408A>C	XP_005266489.1:p.Glu803Ala
XM_006719837.2:c.2798A>C	XP_006719900.1:p.Glu933Ala
XM_006719838.1:c.710A>C	XP_006719901.1:p.Glu237Ala
XM_006719839.1:c.710A>C	XP_006719902.1:p.Glu237Ala
XM_011535117.1:c.2798A>C	XP_011533419.1:p.Glu933Ala
XM_011535118.1:c.2759A>C	XP_011533420.1:p.Glu920Ala
XM_011535119.1:c.2894A>C	XP_011533421.1:p.Glu965Ala
XM_011535120.1:c.2480A>C	XP_011533422.1:p.Glu827Ala
XM_011535121.1:c.2730+3557A>C	XP_011533423.1:n.2730+3557A>C
XM_011535122.1:c.1562A>C	XP_011533424.1:p.Glu521Ala
XR_941601.1:n.3113A>C
XR_941602.1:n.3113A>C
XR_941603.1:n.3113A>C
XR_941604.1:n.3113A>C
NM_001330578.1:c.2660A>C	NP_001317507.1:p.Glu887Ala
NM_001330579.1:c.2642A>C	NP_001317508.1:p.Glu881Ala
XM_005266424.4:c.2798A>C	XP_005266481.1:p.Glu933Ala
XM_005266430.4:c.2894A>C	XP_005266487.1:p.Glu965Ala
XM_005266431.4:c.2858A>C	XP_005266488.1:p.Glu953Ala
XM_006719837.3:c.2798A>C	XP_006719900.1:p.Glu933Ala
XM_011535117.3:c.2798A>C	XP_011533419.1:p.Glu933Ala
XM_017020627.1:c.2798A>C	XP_016876116.1:p.Glu933Ala
NM_000053.4:c.2894A>C MANE Select	NP_000044.2:p.Glu965Ala
NM_001005918.3:c.2273A>C	NP_001005918.1:p.Glu758Ala
NM_001330579.2:c.2642A>C	NP_001317508.1:p.Glu881Ala
NM_001243182.2:c.2561A>C	NP_001230111.1:p.Glu854Ala
NM_001330578.2:c.2660A>C	NP_001317507.1:p.Glu887Ala