Canonical Allele Identifier: CA388020973

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3072995
• ClinVar RCV Id: RCV004015009
• dbSNP Id: rs1957027346
• MyVariant Identifiers: chr13:g.52511456A>C (hg19) ; chr13:g.51937320A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937320A>C , CM000675.2:g.51937320A>C	GRCh38
NC_000013.10:g.52511456A>C , CM000675.1:g.52511456A>C	GRCh37
NC_000013.9:g.51409457A>C	NCBI36
NG_008806.1:g.79175T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1627T>G	ENSP00000489512.2:n.*1627T>G
ENST00000673864.2:c.*2721T>G	ENSP00000501045.2:n.*2721T>G
ENST00000674147.2:c.3356T>G	ENSP00000500964.2:p.Val1119Gly
ENST00000242839.10:c.3977T>G MANE Select	ENSP00000242839.5:p.Val1326Gly
ENST00000344297.9:c.3356T>G	ENSP00000342559.5:p.Val1119Gly
ENST00000400366.6:c.3644T>G	ENSP00000383217.3:p.Val1215Gly
ENST00000448424.7:c.3725T>G	ENSP00000416738.3:p.Val1242Gly
ENST00000673696.1:n.1300T>G
ENST00000673772.1:c.3743T>G	ENSP00000501168.1:p.Val1248Gly
ENST00000673867.1:n.4116T>G
ENST00000673923.1:n.843T>G
ENST00000674147.1:c.2912T>G	ENSP00000500964.1:p.Val971Gly
ENST00000242839.8:c.3977T>G	ENSP00000242839.4:p.Val1326Gly
ENST00000344297.8:c.3356T>G	ENSP00000342559.5:p.Val1119Gly
ENST00000400366.5:c.3644T>G	ENSP00000383217.3:p.Val1215Gly
ENST00000400370.8:c.2687T>G	ENSP00000383221.3:p.Val896Gly
ENST00000418097.7:c.3782T>G	ENSP00000393343.2:p.Val1261Gly
ENST00000448424.6:c.3743T>G	ENSP00000416738.2:p.Val1248Gly
ENST00000634296.1:c.1755T>G
ENST00000634308.1:c.*1078T>G	ENSP00000489234.1:n.*1078T>G
ENST00000634620.1:n.4721T>G
ENST00000634810.1:n.3322T>G
ENST00000634844.1:c.3833T>G	ENSP00000489398.1:p.Val1278Gly
NM_000053.3:c.3977T>G	NP_000044.2:p.Val1326Gly
NM_001005918.2:c.3356T>G	NP_001005918.1:p.Val1119Gly
NM_001243182.1:c.3644T>G	NP_001230111.1:p.Val1215Gly
XM_005266423.2:c.3881T>G	XP_005266480.1:p.Val1294Gly
XM_005266424.3:c.3881T>G	XP_005266481.1:p.Val1294Gly
XM_005266427.2:c.3743T>G	XP_005266484.1:p.Val1248Gly
XM_005266428.1:c.3725T>G	XP_005266485.1:p.Val1242Gly
XM_005266430.3:c.3977T>G	XP_005266487.1:p.Val1326Gly
XM_005266431.2:c.3941T>G	XP_005266488.1:p.Val1314Gly
XM_005266432.2:c.3491T>G	XP_005266489.1:p.Val1164Gly
XM_006719837.2:c.3881T>G	XP_006719900.1:p.Val1294Gly
XM_006719838.1:c.1793T>G	XP_006719901.1:p.Val598Gly
XM_006719839.1:c.1610T>G	XP_006719902.1:p.Val537Gly
XM_011535117.1:c.3881T>G	XP_011533419.1:p.Val1294Gly
XM_011535118.1:c.3842T>G	XP_011533420.1:p.Val1281Gly
XM_011535119.1:c.3794T>G	XP_011533421.1:p.Val1265Gly
XM_011535120.1:c.3563T>G	XP_011533422.1:p.Val1188Gly
XM_011535121.1:c.3464T>G	XP_011533423.1:p.Val1155Gly
XM_011535122.1:c.2645T>G	XP_011533424.1:p.Val882Gly
XR_941601.1:n.4196T>G
XR_941602.1:n.4196T>G
XR_941603.1:n.4196T>G
XR_941604.1:n.4196T>G
NM_001330578.1:c.3743T>G	NP_001317507.1:p.Val1248Gly
NM_001330579.1:c.3725T>G	NP_001317508.1:p.Val1242Gly
XM_005266424.4:c.3881T>G	XP_005266481.1:p.Val1294Gly
XM_005266430.4:c.3977T>G	XP_005266487.1:p.Val1326Gly
XM_005266431.4:c.3941T>G	XP_005266488.1:p.Val1314Gly
XM_006719837.3:c.3881T>G	XP_006719900.1:p.Val1294Gly
XM_011535117.3:c.3881T>G	XP_011533419.1:p.Val1294Gly
XM_017020627.1:c.3881T>G	XP_016876116.1:p.Val1294Gly
NM_000053.4:c.3977T>G MANE Select	NP_000044.2:p.Val1326Gly
NM_001005918.3:c.3356T>G	NP_001005918.1:p.Val1119Gly
NM_001330579.2:c.3725T>G	NP_001317508.1:p.Val1242Gly
NM_001243182.2:c.3644T>G	NP_001230111.1:p.Val1215Gly
NM_001330578.2:c.3743T>G	NP_001317507.1:p.Val1248Gly