Canonical Allele Identifier: CA388030348

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518373C>G (hg19) ; chr13:g.51944237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944237C>G , CM000675.2:g.51944237C>G	GRCh38
NC_000013.10:g.52518373C>G , CM000675.1:g.52518373C>G	GRCh37
NC_000013.9:g.51416374C>G	NCBI36
NG_008806.1:g.72258G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1683G>C	ENSP00000489512.2:n.*894-1683G>C
ENST00000673864.2:c.*1859G>C	ENSP00000501045.2:n.*1859G>C
ENST00000674147.2:c.2494G>C	ENSP00000500964.2:p.Val832Leu
ENST00000242839.10:c.3115G>C MANE Select	ENSP00000242839.5:p.Val1039Leu
ENST00000344297.9:c.2494G>C	ENSP00000342559.5:p.Val832Leu
ENST00000400366.6:c.2782G>C	ENSP00000383217.3:p.Val928Leu
ENST00000448424.7:c.2863G>C	ENSP00000416738.3:p.Val955Leu
ENST00000673772.1:c.2881G>C	ENSP00000501168.1:p.Val961Leu
ENST00000673867.1:n.3254G>C
ENST00000674126.1:n.3478G>C
ENST00000674147.1:c.2050G>C	ENSP00000500964.1:p.Val684Leu
ENST00000242839.8:c.3115G>C	ENSP00000242839.4:p.Val1039Leu
ENST00000344297.8:c.2494G>C	ENSP00000342559.5:p.Val832Leu
ENST00000400366.5:c.2782G>C	ENSP00000383217.3:p.Val928Leu
ENST00000400370.8:c.1825G>C	ENSP00000383221.3:p.Val609Leu
ENST00000418097.7:c.2920G>C	ENSP00000393343.2:p.Val974Leu
ENST00000448424.6:c.2881G>C	ENSP00000416738.2:p.Val961Leu
ENST00000466629.1:n.335G>C
ENST00000634296.1:c.1022-1683G>C
ENST00000634308.1:c.*216G>C	ENSP00000489234.1:n.*216G>C
ENST00000634620.1:n.3859G>C
ENST00000634810.1:n.2460G>C
ENST00000634844.1:c.2971G>C	ENSP00000489398.1:p.Val991Leu
ENST00000635406.1:n.461G>C
NM_000053.3:c.3115G>C	NP_000044.2:p.Val1039Leu
NM_001005918.2:c.2494G>C	NP_001005918.1:p.Val832Leu
NM_001243182.1:c.2782G>C	NP_001230111.1:p.Val928Leu
XM_005266423.2:c.3019G>C	XP_005266480.1:p.Val1007Leu
XM_005266424.3:c.3019G>C	XP_005266481.1:p.Val1007Leu
XM_005266427.2:c.2881G>C	XP_005266484.1:p.Val961Leu
XM_005266428.1:c.2863G>C	XP_005266485.1:p.Val955Leu
XM_005266430.3:c.3115G>C	XP_005266487.1:p.Val1039Leu
XM_005266431.2:c.3079G>C	XP_005266488.1:p.Val1027Leu
XM_005266432.2:c.2629G>C	XP_005266489.1:p.Val877Leu
XM_006719837.2:c.3019G>C	XP_006719900.1:p.Val1007Leu
XM_006719838.1:c.931G>C	XP_006719901.1:p.Val311Leu
XM_006719839.1:c.877-1683G>C	XP_006719902.1:n.877-1683G>C
XM_011535117.1:c.3019G>C	XP_011533419.1:p.Val1007Leu
XM_011535118.1:c.2980G>C	XP_011533420.1:p.Val994Leu
XM_011535119.1:c.3061-1683G>C	XP_011533421.1:n.3061-1683G>C
XM_011535120.1:c.2701G>C	XP_011533422.1:p.Val901Leu
XM_011535121.1:c.2731-1683G>C	XP_011533423.1:n.2731-1683G>C
XM_011535122.1:c.1783G>C	XP_011533424.1:p.Val595Leu
XR_941601.1:n.3334G>C
XR_941602.1:n.3334G>C
XR_941603.1:n.3334G>C
XR_941604.1:n.3334G>C
NM_001330578.1:c.2881G>C	NP_001317507.1:p.Val961Leu
NM_001330579.1:c.2863G>C	NP_001317508.1:p.Val955Leu
XM_005266424.4:c.3019G>C	XP_005266481.1:p.Val1007Leu
XM_005266430.4:c.3115G>C	XP_005266487.1:p.Val1039Leu
XM_005266431.4:c.3079G>C	XP_005266488.1:p.Val1027Leu
XM_006719837.3:c.3019G>C	XP_006719900.1:p.Val1007Leu
XM_011535117.3:c.3019G>C	XP_011533419.1:p.Val1007Leu
XM_017020627.1:c.3019G>C	XP_016876116.1:p.Val1007Leu
NM_000053.4:c.3115G>C MANE Select	NP_000044.2:p.Val1039Leu
NM_001005918.3:c.2494G>C	NP_001005918.1:p.Val832Leu
NM_001330579.2:c.2863G>C	NP_001317508.1:p.Val955Leu
NM_001243182.2:c.2782G>C	NP_001230111.1:p.Val928Leu
NM_001330578.2:c.2881G>C	NP_001317507.1:p.Val961Leu