Canonical Allele Identifier: CA388030025

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3075597
• ClinVar RCV Id: RCV004017115
• MyVariant Identifiers: chr13:g.52518310C>A (hg19) ; chr13:g.51944174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944174C>A , CM000675.2:g.51944174C>A	GRCh38
NC_000013.10:g.52518310C>A , CM000675.1:g.52518310C>A	GRCh37
NC_000013.9:g.51416311C>A	NCBI36
NG_008806.1:g.72321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1620G>T	ENSP00000489512.2:n.*894-1620G>T
ENST00000673864.2:c.*1922G>T	ENSP00000501045.2:n.*1922G>T
ENST00000674147.2:c.2557G>T	ENSP00000500964.2:p.Val853Leu
ENST00000242839.10:c.3178G>T MANE Select	ENSP00000242839.5:p.Val1060Leu
ENST00000344297.9:c.2557G>T	ENSP00000342559.5:p.Val853Leu
ENST00000400366.6:c.2845G>T	ENSP00000383217.3:p.Val949Leu
ENST00000448424.7:c.2926G>T	ENSP00000416738.3:p.Val976Leu
ENST00000673772.1:c.2944G>T	ENSP00000501168.1:p.Val982Leu
ENST00000673867.1:n.3317G>T
ENST00000674126.1:n.3541G>T
ENST00000674147.1:c.2113G>T	ENSP00000500964.1:p.Val705Leu
ENST00000242839.8:c.3178G>T	ENSP00000242839.4:p.Val1060Leu
ENST00000344297.8:c.2557G>T	ENSP00000342559.5:p.Val853Leu
ENST00000400366.5:c.2845G>T	ENSP00000383217.3:p.Val949Leu
ENST00000400370.8:c.1888G>T	ENSP00000383221.3:p.Val630Leu
ENST00000418097.7:c.2983G>T	ENSP00000393343.2:p.Val995Leu
ENST00000448424.6:c.2944G>T	ENSP00000416738.2:p.Val982Leu
ENST00000466629.1:n.398G>T
ENST00000634296.1:c.1022-1620G>T
ENST00000634308.1:c.*279G>T	ENSP00000489234.1:n.*279G>T
ENST00000634620.1:n.3922G>T
ENST00000634810.1:n.2523G>T
ENST00000634844.1:c.3034G>T	ENSP00000489398.1:p.Val1012Leu
NM_000053.3:c.3178G>T	NP_000044.2:p.Val1060Leu
NM_001005918.2:c.2557G>T	NP_001005918.1:p.Val853Leu
NM_001243182.1:c.2845G>T	NP_001230111.1:p.Val949Leu
XM_005266423.2:c.3082G>T	XP_005266480.1:p.Val1028Leu
XM_005266424.3:c.3082G>T	XP_005266481.1:p.Val1028Leu
XM_005266427.2:c.2944G>T	XP_005266484.1:p.Val982Leu
XM_005266428.1:c.2926G>T	XP_005266485.1:p.Val976Leu
XM_005266430.3:c.3178G>T	XP_005266487.1:p.Val1060Leu
XM_005266431.2:c.3142G>T	XP_005266488.1:p.Val1048Leu
XM_005266432.2:c.2692G>T	XP_005266489.1:p.Val898Leu
XM_006719837.2:c.3082G>T	XP_006719900.1:p.Val1028Leu
XM_006719838.1:c.994G>T	XP_006719901.1:p.Val332Leu
XM_006719839.1:c.877-1620G>T	XP_006719902.1:n.877-1620G>T
XM_011535117.1:c.3082G>T	XP_011533419.1:p.Val1028Leu
XM_011535118.1:c.3043G>T	XP_011533420.1:p.Val1015Leu
XM_011535119.1:c.3061-1620G>T	XP_011533421.1:n.3061-1620G>T
XM_011535120.1:c.2764G>T	XP_011533422.1:p.Val922Leu
XM_011535121.1:c.2731-1620G>T	XP_011533423.1:n.2731-1620G>T
XM_011535122.1:c.1846G>T	XP_011533424.1:p.Val616Leu
XR_941601.1:n.3397G>T
XR_941602.1:n.3397G>T
XR_941603.1:n.3397G>T
XR_941604.1:n.3397G>T
NM_001330578.1:c.2944G>T	NP_001317507.1:p.Val982Leu
NM_001330579.1:c.2926G>T	NP_001317508.1:p.Val976Leu
XM_005266424.4:c.3082G>T	XP_005266481.1:p.Val1028Leu
XM_005266430.4:c.3178G>T	XP_005266487.1:p.Val1060Leu
XM_005266431.4:c.3142G>T	XP_005266488.1:p.Val1048Leu
XM_006719837.3:c.3082G>T	XP_006719900.1:p.Val1028Leu
XM_011535117.3:c.3082G>T	XP_011533419.1:p.Val1028Leu
XM_017020627.1:c.3082G>T	XP_016876116.1:p.Val1028Leu
NM_000053.4:c.3178G>T MANE Select	NP_000044.2:p.Val1060Leu
NM_001005918.3:c.2557G>T	NP_001005918.1:p.Val853Leu
NM_001330579.2:c.2926G>T	NP_001317508.1:p.Val976Leu
NM_001243182.2:c.2845G>T	NP_001230111.1:p.Val949Leu
NM_001330578.2:c.2944G>T	NP_001317507.1:p.Val982Leu