Canonical Allele Identifier: CA388034919

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 551156
• ClinVar RCV Id: RCV000666140
• dbSNP Id: rs1555288669
• MyVariant Identifiers: chr13:g.52524282A>C (hg19) ; chr13:g.51950146A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950146A>C , CM000675.2:g.51950146A>C	GRCh38
NC_000013.10:g.52524282A>C , CM000675.1:g.52524282A>C	GRCh37
NC_000013.9:g.51422283A>C	NCBI36
NG_008806.1:g.66349T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*424T>G	ENSP00000489512.2:n.*424T>G
ENST00000673864.2:c.*1335T>G	ENSP00000501045.2:n.*1335T>G
ENST00000674147.2:c.2105T>G	ENSP00000500964.2:p.Val702Gly
ENST00000242839.10:c.2591T>G MANE Select	ENSP00000242839.5:p.Val864Gly
ENST00000344297.9:c.2105T>G	ENSP00000342559.5:p.Val702Gly
ENST00000400366.6:c.2258T>G	ENSP00000383217.3:p.Val753Gly
ENST00000448424.7:c.2339T>G	ENSP00000416738.3:p.Val780Gly
ENST00000673772.1:c.2357T>G	ENSP00000501168.1:p.Val786Gly
ENST00000674147.1:c.1661T>G	ENSP00000500964.1:p.Val554Gly
ENST00000242839.8:c.2591T>G	ENSP00000242839.4:p.Val864Gly
ENST00000344297.8:c.2105T>G	ENSP00000342559.5:p.Val702Gly
ENST00000400366.5:c.2258T>G	ENSP00000383217.3:p.Val753Gly
ENST00000400370.8:c.1301T>G	ENSP00000383221.3:p.Val434Gly
ENST00000418097.7:c.2591T>G	ENSP00000393343.2:p.Val864Gly
ENST00000448424.6:c.2357T>G	ENSP00000416738.2:p.Val786Gly
ENST00000634296.1:c.552T>G
ENST00000634308.1:c.2357T>G	ENSP00000489234.1:p.Val786Gly
ENST00000634620.1:n.3389T>G
ENST00000634810.1:n.1936T>G
ENST00000634844.1:c.2447T>G	ENSP00000489398.1:p.Val816Gly
ENST00000635406.1:n.212-3668T>G
NM_000053.3:c.2591T>G	NP_000044.2:p.Val864Gly
NM_001005918.2:c.2105T>G	NP_001005918.1:p.Val702Gly
NM_001243182.1:c.2258T>G	NP_001230111.1:p.Val753Gly
XM_005266423.2:c.2495T>G	XP_005266480.1:p.Val832Gly
XM_005266424.3:c.2495T>G	XP_005266481.1:p.Val832Gly
XM_005266427.2:c.2357T>G	XP_005266484.1:p.Val786Gly
XM_005266428.1:c.2339T>G	XP_005266485.1:p.Val780Gly
XM_005266430.3:c.2591T>G	XP_005266487.1:p.Val864Gly
XM_005266431.2:c.2555T>G	XP_005266488.1:p.Val852Gly
XM_005266432.2:c.2105T>G	XP_005266489.1:p.Val702Gly
XM_006719837.2:c.2495T>G	XP_006719900.1:p.Val832Gly
XM_006719838.1:c.407T>G	XP_006719901.1:p.Val136Gly
XM_006719839.1:c.407T>G	XP_006719902.1:p.Val136Gly
XM_011535117.1:c.2495T>G	XP_011533419.1:p.Val832Gly
XM_011535118.1:c.2591T>G	XP_011533420.1:p.Val864Gly
XM_011535119.1:c.2591T>G	XP_011533421.1:p.Val864Gly
XM_011535120.1:c.2177T>G	XP_011533422.1:p.Val726Gly
XM_011535121.1:c.2591T>G	XP_011533423.1:p.Val864Gly
XM_011535122.1:c.1259T>G	XP_011533424.1:p.Val420Gly
XR_941601.1:n.2810T>G
XR_941602.1:n.2810T>G
XR_941603.1:n.2810T>G
XR_941604.1:n.2810T>G
NM_001330578.1:c.2357T>G	NP_001317507.1:p.Val786Gly
NM_001330579.1:c.2339T>G	NP_001317508.1:p.Val780Gly
XM_005266424.4:c.2495T>G	XP_005266481.1:p.Val832Gly
XM_005266430.4:c.2591T>G	XP_005266487.1:p.Val864Gly
XM_005266431.4:c.2555T>G	XP_005266488.1:p.Val852Gly
XM_006719837.3:c.2495T>G	XP_006719900.1:p.Val832Gly
XM_011535117.3:c.2495T>G	XP_011533419.1:p.Val832Gly
XM_017020627.1:c.2495T>G	XP_016876116.1:p.Val832Gly
NM_000053.4:c.2591T>G MANE Select	NP_000044.2:p.Val864Gly
NM_001005918.3:c.2105T>G	NP_001005918.1:p.Val702Gly
NM_001330579.2:c.2339T>G	NP_001317508.1:p.Val780Gly
NM_001243182.2:c.2258T>G	NP_001230111.1:p.Val753Gly
NM_001330578.2:c.2357T>G	NP_001317507.1:p.Val786Gly