Canonical Allele Identifier: CA388030342

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1682T>G	ENSP00000489512.2:n.*894-1682T>G
ENST00000673864.2:c.*1860T>G	ENSP00000501045.2:n.*1860T>G
ENST00000674147.2:c.2495T>G	ENSP00000500964.2:p.Val832Gly
ENST00000242839.10:c.3116T>G MANE Select	ENSP00000242839.5:p.Val1039Gly
ENST00000344297.9:c.2495T>G	ENSP00000342559.5:p.Val832Gly
ENST00000400366.6:c.2783T>G	ENSP00000383217.3:p.Val928Gly
ENST00000448424.7:c.2864T>G	ENSP00000416738.3:p.Val955Gly
ENST00000673772.1:c.2882T>G	ENSP00000501168.1:p.Val961Gly
ENST00000673867.1:n.3255T>G
ENST00000674126.1:n.3479T>G
ENST00000674147.1:c.2051T>G	ENSP00000500964.1:p.Val684Gly
ENST00000242839.8:c.3116T>G	ENSP00000242839.4:p.Val1039Gly
ENST00000344297.8:c.2495T>G	ENSP00000342559.5:p.Val832Gly
ENST00000400366.5:c.2783T>G	ENSP00000383217.3:p.Val928Gly
ENST00000400370.8:c.1826T>G	ENSP00000383221.3:p.Val609Gly
ENST00000418097.7:c.2921T>G	ENSP00000393343.2:p.Val974Gly
ENST00000448424.6:c.2882T>G	ENSP00000416738.2:p.Val961Gly
ENST00000466629.1:n.336T>G
ENST00000634296.1:c.1022-1682T>G
ENST00000634308.1:c.*217T>G	ENSP00000489234.1:n.*217T>G
ENST00000634620.1:n.3860T>G
ENST00000634810.1:n.2461T>G
ENST00000634844.1:c.2972T>G	ENSP00000489398.1:p.Val991Gly
ENST00000635406.1:n.462T>G
NM_000053.3:c.3116T>G	NP_000044.2:p.Val1039Gly
NM_001005918.2:c.2495T>G	NP_001005918.1:p.Val832Gly
NM_001243182.1:c.2783T>G	NP_001230111.1:p.Val928Gly
XM_005266423.2:c.3020T>G	XP_005266480.1:p.Val1007Gly
XM_005266424.3:c.3020T>G	XP_005266481.1:p.Val1007Gly
XM_005266427.2:c.2882T>G	XP_005266484.1:p.Val961Gly
XM_005266428.1:c.2864T>G	XP_005266485.1:p.Val955Gly
XM_005266430.3:c.3116T>G	XP_005266487.1:p.Val1039Gly
XM_005266431.2:c.3080T>G	XP_005266488.1:p.Val1027Gly
XM_005266432.2:c.2630T>G	XP_005266489.1:p.Val877Gly
XM_006719837.2:c.3020T>G	XP_006719900.1:p.Val1007Gly
XM_006719838.1:c.932T>G	XP_006719901.1:p.Val311Gly
XM_006719839.1:c.877-1682T>G	XP_006719902.1:n.877-1682T>G
XM_011535117.1:c.3020T>G	XP_011533419.1:p.Val1007Gly
XM_011535118.1:c.2981T>G	XP_011533420.1:p.Val994Gly
XM_011535119.1:c.3061-1682T>G	XP_011533421.1:n.3061-1682T>G
XM_011535120.1:c.2702T>G	XP_011533422.1:p.Val901Gly
XM_011535121.1:c.2731-1682T>G	XP_011533423.1:n.2731-1682T>G
XM_011535122.1:c.1784T>G	XP_011533424.1:p.Val595Gly
XR_941601.1:n.3335T>G
XR_941602.1:n.3335T>G
XR_941603.1:n.3335T>G
XR_941604.1:n.3335T>G
NM_001330578.1:c.2882T>G	NP_001317507.1:p.Val961Gly
NM_001330579.1:c.2864T>G	NP_001317508.1:p.Val955Gly
XM_005266424.4:c.3020T>G	XP_005266481.1:p.Val1007Gly
XM_005266430.4:c.3116T>G	XP_005266487.1:p.Val1039Gly
XM_005266431.4:c.3080T>G	XP_005266488.1:p.Val1027Gly
XM_006719837.3:c.3020T>G	XP_006719900.1:p.Val1007Gly
XM_011535117.3:c.3020T>G	XP_011533419.1:p.Val1007Gly
XM_017020627.1:c.3020T>G	XP_016876116.1:p.Val1007Gly
NM_000053.4:c.3116T>G MANE Select	NP_000044.2:p.Val1039Gly
NM_001005918.3:c.2495T>G	NP_001005918.1:p.Val832Gly
NM_001330579.2:c.2864T>G	NP_001317508.1:p.Val955Gly
NM_001243182.2:c.2783T>G	NP_001230111.1:p.Val928Gly
NM_001330578.2:c.2882T>G	NP_001317507.1:p.Val961Gly