Canonical Allele Identifier: CA388030093

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518325T>C (hg19) ; chr13:g.51944189T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944189T>C , CM000675.2:g.51944189T>C	GRCh38
NC_000013.10:g.52518325T>C , CM000675.1:g.52518325T>C	GRCh37
NC_000013.9:g.51416326T>C	NCBI36
NG_008806.1:g.72306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1635A>G	ENSP00000489512.2:n.*894-1635A>G
ENST00000673864.2:c.*1907A>G	ENSP00000501045.2:n.*1907A>G
ENST00000674147.2:c.2542A>G	ENSP00000500964.2:p.Lys848Glu
ENST00000242839.10:c.3163A>G MANE Select	ENSP00000242839.5:p.Lys1055Glu
ENST00000344297.9:c.2542A>G	ENSP00000342559.5:p.Lys848Glu
ENST00000400366.6:c.2830A>G	ENSP00000383217.3:p.Lys944Glu
ENST00000448424.7:c.2911A>G	ENSP00000416738.3:p.Lys971Glu
ENST00000673772.1:c.2929A>G	ENSP00000501168.1:p.Lys977Glu
ENST00000673867.1:n.3302A>G
ENST00000674126.1:n.3526A>G
ENST00000674147.1:c.2098A>G	ENSP00000500964.1:p.Lys700Glu
ENST00000242839.8:c.3163A>G	ENSP00000242839.4:p.Lys1055Glu
ENST00000344297.8:c.2542A>G	ENSP00000342559.5:p.Lys848Glu
ENST00000400366.5:c.2830A>G	ENSP00000383217.3:p.Lys944Glu
ENST00000400370.8:c.1873A>G	ENSP00000383221.3:p.Lys625Glu
ENST00000418097.7:c.2968A>G	ENSP00000393343.2:p.Lys990Glu
ENST00000448424.6:c.2929A>G	ENSP00000416738.2:p.Lys977Glu
ENST00000466629.1:n.383A>G
ENST00000634296.1:c.1022-1635A>G
ENST00000634308.1:c.*264A>G	ENSP00000489234.1:n.*264A>G
ENST00000634620.1:n.3907A>G
ENST00000634810.1:n.2508A>G
ENST00000634844.1:c.3019A>G	ENSP00000489398.1:p.Lys1007Glu
NM_000053.3:c.3163A>G	NP_000044.2:p.Lys1055Glu
NM_001005918.2:c.2542A>G	NP_001005918.1:p.Lys848Glu
NM_001243182.1:c.2830A>G	NP_001230111.1:p.Lys944Glu
XM_005266423.2:c.3067A>G	XP_005266480.1:p.Lys1023Glu
XM_005266424.3:c.3067A>G	XP_005266481.1:p.Lys1023Glu
XM_005266427.2:c.2929A>G	XP_005266484.1:p.Lys977Glu
XM_005266428.1:c.2911A>G	XP_005266485.1:p.Lys971Glu
XM_005266430.3:c.3163A>G	XP_005266487.1:p.Lys1055Glu
XM_005266431.2:c.3127A>G	XP_005266488.1:p.Lys1043Glu
XM_005266432.2:c.2677A>G	XP_005266489.1:p.Lys893Glu
XM_006719837.2:c.3067A>G	XP_006719900.1:p.Lys1023Glu
XM_006719838.1:c.979A>G	XP_006719901.1:p.Lys327Glu
XM_006719839.1:c.877-1635A>G	XP_006719902.1:n.877-1635A>G
XM_011535117.1:c.3067A>G	XP_011533419.1:p.Lys1023Glu
XM_011535118.1:c.3028A>G	XP_011533420.1:p.Lys1010Glu
XM_011535119.1:c.3061-1635A>G	XP_011533421.1:n.3061-1635A>G
XM_011535120.1:c.2749A>G	XP_011533422.1:p.Lys917Glu
XM_011535121.1:c.2731-1635A>G	XP_011533423.1:n.2731-1635A>G
XM_011535122.1:c.1831A>G	XP_011533424.1:p.Lys611Glu
XR_941601.1:n.3382A>G
XR_941602.1:n.3382A>G
XR_941603.1:n.3382A>G
XR_941604.1:n.3382A>G
NM_001330578.1:c.2929A>G	NP_001317507.1:p.Lys977Glu
NM_001330579.1:c.2911A>G	NP_001317508.1:p.Lys971Glu
XM_005266424.4:c.3067A>G	XP_005266481.1:p.Lys1023Glu
XM_005266430.4:c.3163A>G	XP_005266487.1:p.Lys1055Glu
XM_005266431.4:c.3127A>G	XP_005266488.1:p.Lys1043Glu
XM_006719837.3:c.3067A>G	XP_006719900.1:p.Lys1023Glu
XM_011535117.3:c.3067A>G	XP_011533419.1:p.Lys1023Glu
XM_017020627.1:c.3067A>G	XP_016876116.1:p.Lys1023Glu
NM_000053.4:c.3163A>G MANE Select	NP_000044.2:p.Lys1055Glu
NM_001005918.3:c.2542A>G	NP_001005918.1:p.Lys848Glu
NM_001330579.2:c.2911A>G	NP_001317508.1:p.Lys971Glu
NM_001243182.2:c.2830A>G	NP_001230111.1:p.Lys944Glu
NM_001330578.2:c.2929A>G	NP_001317507.1:p.Lys977Glu