Canonical Allele Identifier: CA388026712

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515336A>T (hg19) ; chr13:g.51941200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941200A>T , CM000675.2:g.51941200A>T	GRCh38
NC_000013.10:g.52515336A>T , CM000675.1:g.52515336A>T	GRCh37
NC_000013.9:g.51413337A>T	NCBI36
NG_008806.1:g.75295T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1087T>A	ENSP00000489512.2:n.*1087T>A
ENST00000673864.2:c.*2181T>A	ENSP00000501045.2:n.*2181T>A
ENST00000674147.2:c.2816T>A	ENSP00000500964.2:p.Val939Glu
ENST00000242839.10:c.3437T>A MANE Select	ENSP00000242839.5:p.Val1146Glu
ENST00000344297.9:c.2816T>A	ENSP00000342559.5:p.Val939Glu
ENST00000400366.6:c.3104T>A	ENSP00000383217.3:p.Val1035Glu
ENST00000448424.7:c.3185T>A	ENSP00000416738.3:p.Val1062Glu
ENST00000673772.1:c.3203T>A	ENSP00000501168.1:p.Val1068Glu
ENST00000673867.1:n.3576T>A
ENST00000674126.1:n.3800T>A
ENST00000674147.1:c.2372T>A	ENSP00000500964.1:p.Val791Glu
ENST00000242839.8:c.3437T>A	ENSP00000242839.4:p.Val1146Glu
ENST00000344297.8:c.2816T>A	ENSP00000342559.5:p.Val939Glu
ENST00000400366.5:c.3104T>A	ENSP00000383217.3:p.Val1035Glu
ENST00000400370.8:c.2147T>A	ENSP00000383221.3:p.Val716Glu
ENST00000418097.7:c.3242T>A	ENSP00000393343.2:p.Val1081Glu
ENST00000448424.6:c.3203T>A	ENSP00000416738.2:p.Val1068Glu
ENST00000634296.1:c.1215T>A
ENST00000634308.1:c.*538T>A	ENSP00000489234.1:n.*538T>A
ENST00000634620.1:n.4181T>A
ENST00000634810.1:n.2782T>A
ENST00000634844.1:c.3293T>A	ENSP00000489398.1:p.Val1098Glu
NM_000053.3:c.3437T>A	NP_000044.2:p.Val1146Glu
NM_001005918.2:c.2816T>A	NP_001005918.1:p.Val939Glu
NM_001243182.1:c.3104T>A	NP_001230111.1:p.Val1035Glu
XM_005266423.2:c.3341T>A	XP_005266480.1:p.Val1114Glu
XM_005266424.3:c.3341T>A	XP_005266481.1:p.Val1114Glu
XM_005266427.2:c.3203T>A	XP_005266484.1:p.Val1068Glu
XM_005266428.1:c.3185T>A	XP_005266485.1:p.Val1062Glu
XM_005266430.3:c.3437T>A	XP_005266487.1:p.Val1146Glu
XM_005266431.2:c.3401T>A	XP_005266488.1:p.Val1134Glu
XM_005266432.2:c.2951T>A	XP_005266489.1:p.Val984Glu
XM_006719837.2:c.3341T>A	XP_006719900.1:p.Val1114Glu
XM_006719838.1:c.1253T>A	XP_006719901.1:p.Val418Glu
XM_006719839.1:c.1070T>A	XP_006719902.1:p.Val357Glu
XM_011535117.1:c.3341T>A	XP_011533419.1:p.Val1114Glu
XM_011535118.1:c.3302T>A	XP_011533420.1:p.Val1101Glu
XM_011535119.1:c.3254T>A	XP_011533421.1:p.Val1085Glu
XM_011535120.1:c.3023T>A	XP_011533422.1:p.Val1008Glu
XM_011535121.1:c.2924T>A	XP_011533423.1:p.Val975Glu
XM_011535122.1:c.2105T>A	XP_011533424.1:p.Val702Glu
XR_941601.1:n.3656T>A
XR_941602.1:n.3656T>A
XR_941603.1:n.3656T>A
XR_941604.1:n.3656T>A
NM_001330578.1:c.3203T>A	NP_001317507.1:p.Val1068Glu
NM_001330579.1:c.3185T>A	NP_001317508.1:p.Val1062Glu
XM_005266424.4:c.3341T>A	XP_005266481.1:p.Val1114Glu
XM_005266430.4:c.3437T>A	XP_005266487.1:p.Val1146Glu
XM_005266431.4:c.3401T>A	XP_005266488.1:p.Val1134Glu
XM_006719837.3:c.3341T>A	XP_006719900.1:p.Val1114Glu
XM_011535117.3:c.3341T>A	XP_011533419.1:p.Val1114Glu
XM_017020627.1:c.3341T>A	XP_016876116.1:p.Val1114Glu
NM_000053.4:c.3437T>A MANE Select	NP_000044.2:p.Val1146Glu
NM_001005918.3:c.2816T>A	NP_001005918.1:p.Val939Glu
NM_001330579.2:c.3185T>A	NP_001317508.1:p.Val1062Glu
NM_001243182.2:c.3104T>A	NP_001230111.1:p.Val1035Glu
NM_001330578.2:c.3203T>A	NP_001317507.1:p.Val1068Glu