Canonical Allele Identifier: CA388030343

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518372A>G (hg19) ; chr13:g.51944236A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944236A>G , CM000675.2:g.51944236A>G	GRCh38
NC_000013.10:g.52518372A>G , CM000675.1:g.52518372A>G	GRCh37
NC_000013.9:g.51416373A>G	NCBI36
NG_008806.1:g.72259T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1682T>C	ENSP00000489512.2:n.*894-1682T>C
ENST00000673864.2:c.*1860T>C	ENSP00000501045.2:n.*1860T>C
ENST00000674147.2:c.2495T>C	ENSP00000500964.2:p.Val832Ala
ENST00000242839.10:c.3116T>C MANE Select	ENSP00000242839.5:p.Val1039Ala
ENST00000344297.9:c.2495T>C	ENSP00000342559.5:p.Val832Ala
ENST00000400366.6:c.2783T>C	ENSP00000383217.3:p.Val928Ala
ENST00000448424.7:c.2864T>C	ENSP00000416738.3:p.Val955Ala
ENST00000673772.1:c.2882T>C	ENSP00000501168.1:p.Val961Ala
ENST00000673867.1:n.3255T>C
ENST00000674126.1:n.3479T>C
ENST00000674147.1:c.2051T>C	ENSP00000500964.1:p.Val684Ala
ENST00000242839.8:c.3116T>C	ENSP00000242839.4:p.Val1039Ala
ENST00000344297.8:c.2495T>C	ENSP00000342559.5:p.Val832Ala
ENST00000400366.5:c.2783T>C	ENSP00000383217.3:p.Val928Ala
ENST00000400370.8:c.1826T>C	ENSP00000383221.3:p.Val609Ala
ENST00000418097.7:c.2921T>C	ENSP00000393343.2:p.Val974Ala
ENST00000448424.6:c.2882T>C	ENSP00000416738.2:p.Val961Ala
ENST00000466629.1:n.336T>C
ENST00000634296.1:c.1022-1682T>C
ENST00000634308.1:c.*217T>C	ENSP00000489234.1:n.*217T>C
ENST00000634620.1:n.3860T>C
ENST00000634810.1:n.2461T>C
ENST00000634844.1:c.2972T>C	ENSP00000489398.1:p.Val991Ala
ENST00000635406.1:n.462T>C
NM_000053.3:c.3116T>C	NP_000044.2:p.Val1039Ala
NM_001005918.2:c.2495T>C	NP_001005918.1:p.Val832Ala
NM_001243182.1:c.2783T>C	NP_001230111.1:p.Val928Ala
XM_005266423.2:c.3020T>C	XP_005266480.1:p.Val1007Ala
XM_005266424.3:c.3020T>C	XP_005266481.1:p.Val1007Ala
XM_005266427.2:c.2882T>C	XP_005266484.1:p.Val961Ala
XM_005266428.1:c.2864T>C	XP_005266485.1:p.Val955Ala
XM_005266430.3:c.3116T>C	XP_005266487.1:p.Val1039Ala
XM_005266431.2:c.3080T>C	XP_005266488.1:p.Val1027Ala
XM_005266432.2:c.2630T>C	XP_005266489.1:p.Val877Ala
XM_006719837.2:c.3020T>C	XP_006719900.1:p.Val1007Ala
XM_006719838.1:c.932T>C	XP_006719901.1:p.Val311Ala
XM_006719839.1:c.877-1682T>C	XP_006719902.1:n.877-1682T>C
XM_011535117.1:c.3020T>C	XP_011533419.1:p.Val1007Ala
XM_011535118.1:c.2981T>C	XP_011533420.1:p.Val994Ala
XM_011535119.1:c.3061-1682T>C	XP_011533421.1:n.3061-1682T>C
XM_011535120.1:c.2702T>C	XP_011533422.1:p.Val901Ala
XM_011535121.1:c.2731-1682T>C	XP_011533423.1:n.2731-1682T>C
XM_011535122.1:c.1784T>C	XP_011533424.1:p.Val595Ala
XR_941601.1:n.3335T>C
XR_941602.1:n.3335T>C
XR_941603.1:n.3335T>C
XR_941604.1:n.3335T>C
NM_001330578.1:c.2882T>C	NP_001317507.1:p.Val961Ala
NM_001330579.1:c.2864T>C	NP_001317508.1:p.Val955Ala
XM_005266424.4:c.3020T>C	XP_005266481.1:p.Val1007Ala
XM_005266430.4:c.3116T>C	XP_005266487.1:p.Val1039Ala
XM_005266431.4:c.3080T>C	XP_005266488.1:p.Val1027Ala
XM_006719837.3:c.3020T>C	XP_006719900.1:p.Val1007Ala
XM_011535117.3:c.3020T>C	XP_011533419.1:p.Val1007Ala
XM_017020627.1:c.3020T>C	XP_016876116.1:p.Val1007Ala
NM_000053.4:c.3116T>C MANE Select	NP_000044.2:p.Val1039Ala
NM_001005918.3:c.2495T>C	NP_001005918.1:p.Val832Ala
NM_001330579.2:c.2864T>C	NP_001317508.1:p.Val955Ala
NM_001243182.2:c.2783T>C	NP_001230111.1:p.Val928Ala
NM_001330578.2:c.2882T>C	NP_001317507.1:p.Val961Ala