Canonical Allele Identifier: CA388030624

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518406T>G (hg19) ; chr13:g.51944270T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944270T>G , CM000675.2:g.51944270T>G	GRCh38
NC_000013.10:g.52518406T>G , CM000675.1:g.52518406T>G	GRCh37
NC_000013.9:g.51416407T>G	NCBI36
NG_008806.1:g.72225A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1716A>C	ENSP00000489512.2:n.*894-1716A>C
ENST00000673864.2:c.*1826A>C	ENSP00000501045.2:n.*1826A>C
ENST00000674147.2:c.2461A>C	ENSP00000500964.2:p.Lys821Gln
ENST00000242839.10:c.3082A>C MANE Select	ENSP00000242839.5:p.Lys1028Gln
ENST00000344297.9:c.2461A>C	ENSP00000342559.5:p.Lys821Gln
ENST00000400366.6:c.2749A>C	ENSP00000383217.3:p.Lys917Gln
ENST00000448424.7:c.2830A>C	ENSP00000416738.3:p.Lys944Gln
ENST00000673772.1:c.2848A>C	ENSP00000501168.1:p.Lys950Gln
ENST00000673867.1:n.3221A>C
ENST00000674126.1:n.3445A>C
ENST00000674147.1:c.2017A>C	ENSP00000500964.1:p.Lys673Gln
ENST00000242839.8:c.3082A>C	ENSP00000242839.4:p.Lys1028Gln
ENST00000344297.8:c.2461A>C	ENSP00000342559.5:p.Lys821Gln
ENST00000400366.5:c.2749A>C	ENSP00000383217.3:p.Lys917Gln
ENST00000400370.8:c.1792A>C	ENSP00000383221.3:p.Lys598Gln
ENST00000418097.7:c.2887A>C	ENSP00000393343.2:p.Lys963Gln
ENST00000448424.6:c.2848A>C	ENSP00000416738.2:p.Lys950Gln
ENST00000466629.1:n.302A>C
ENST00000634296.1:c.1022-1716A>C
ENST00000634308.1:c.*183A>C	ENSP00000489234.1:n.*183A>C
ENST00000634620.1:n.3826A>C
ENST00000634810.1:n.2427A>C
ENST00000634844.1:c.2938A>C	ENSP00000489398.1:p.Lys980Gln
ENST00000635406.1:n.428A>C
NM_000053.3:c.3082A>C	NP_000044.2:p.Lys1028Gln
NM_001005918.2:c.2461A>C	NP_001005918.1:p.Lys821Gln
NM_001243182.1:c.2749A>C	NP_001230111.1:p.Lys917Gln
XM_005266423.2:c.2986A>C	XP_005266480.1:p.Lys996Gln
XM_005266424.3:c.2986A>C	XP_005266481.1:p.Lys996Gln
XM_005266427.2:c.2848A>C	XP_005266484.1:p.Lys950Gln
XM_005266428.1:c.2830A>C	XP_005266485.1:p.Lys944Gln
XM_005266430.3:c.3082A>C	XP_005266487.1:p.Lys1028Gln
XM_005266431.2:c.3046A>C	XP_005266488.1:p.Lys1016Gln
XM_005266432.2:c.2596A>C	XP_005266489.1:p.Lys866Gln
XM_006719837.2:c.2986A>C	XP_006719900.1:p.Lys996Gln
XM_006719838.1:c.898A>C	XP_006719901.1:p.Lys300Gln
XM_006719839.1:c.877-1716A>C	XP_006719902.1:n.877-1716A>C
XM_011535117.1:c.2986A>C	XP_011533419.1:p.Lys996Gln
XM_011535118.1:c.2947A>C	XP_011533420.1:p.Lys983Gln
XM_011535119.1:c.3061-1716A>C	XP_011533421.1:n.3061-1716A>C
XM_011535120.1:c.2668A>C	XP_011533422.1:p.Lys890Gln
XM_011535121.1:c.2731-1716A>C	XP_011533423.1:n.2731-1716A>C
XM_011535122.1:c.1750A>C	XP_011533424.1:p.Lys584Gln
XR_941601.1:n.3301A>C
XR_941602.1:n.3301A>C
XR_941603.1:n.3301A>C
XR_941604.1:n.3301A>C
NM_001330578.1:c.2848A>C	NP_001317507.1:p.Lys950Gln
NM_001330579.1:c.2830A>C	NP_001317508.1:p.Lys944Gln
XM_005266424.4:c.2986A>C	XP_005266481.1:p.Lys996Gln
XM_005266430.4:c.3082A>C	XP_005266487.1:p.Lys1028Gln
XM_005266431.4:c.3046A>C	XP_005266488.1:p.Lys1016Gln
XM_006719837.3:c.2986A>C	XP_006719900.1:p.Lys996Gln
XM_011535117.3:c.2986A>C	XP_011533419.1:p.Lys996Gln
XM_017020627.1:c.2986A>C	XP_016876116.1:p.Lys996Gln
NM_000053.4:c.3082A>C MANE Select	NP_000044.2:p.Lys1028Gln
NM_001005918.3:c.2461A>C	NP_001005918.1:p.Lys821Gln
NM_001330579.2:c.2830A>C	NP_001317508.1:p.Lys944Gln
NM_001243182.2:c.2749A>C	NP_001230111.1:p.Lys917Gln
NM_001330578.2:c.2848A>C	NP_001317507.1:p.Lys950Gln