Canonical Allele Identifier: CA388026626

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 550770
• ClinVar RCV Id: RCV000665607
• dbSNP Id: rs755554442
• MyVariant Identifiers: chr13:g.52515322G>C (hg19) ; chr13:g.51941186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941186G>C , CM000675.2:g.51941186G>C	GRCh38
NC_000013.10:g.52515322G>C , CM000675.1:g.52515322G>C	GRCh37
NC_000013.9:g.51413323G>C	NCBI36
NG_008806.1:g.75309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1101C>G	ENSP00000489512.2:n.*1101C>G
ENST00000673864.2:c.*2195C>G	ENSP00000501045.2:n.*2195C>G
ENST00000674147.2:c.2830C>G	ENSP00000500964.2:p.Arg944Gly
ENST00000242839.10:c.3451C>G MANE Select	ENSP00000242839.5:p.Arg1151Gly
ENST00000344297.9:c.2830C>G	ENSP00000342559.5:p.Arg944Gly
ENST00000400366.6:c.3118C>G	ENSP00000383217.3:p.Arg1040Gly
ENST00000448424.7:c.3199C>G	ENSP00000416738.3:p.Arg1067Gly
ENST00000673772.1:c.3217C>G	ENSP00000501168.1:p.Arg1073Gly
ENST00000673867.1:n.3590C>G
ENST00000674126.1:n.3814C>G
ENST00000674147.1:c.2386C>G	ENSP00000500964.1:p.Arg796Gly
ENST00000242839.8:c.3451C>G	ENSP00000242839.4:p.Arg1151Gly
ENST00000344297.8:c.2830C>G	ENSP00000342559.5:p.Arg944Gly
ENST00000400366.5:c.3118C>G	ENSP00000383217.3:p.Arg1040Gly
ENST00000400370.8:c.2161C>G	ENSP00000383221.3:p.Arg721Gly
ENST00000418097.7:c.3256C>G	ENSP00000393343.2:p.Arg1086Gly
ENST00000448424.6:c.3217C>G	ENSP00000416738.2:p.Arg1073Gly
ENST00000634296.1:c.1229C>G
ENST00000634308.1:c.*552C>G	ENSP00000489234.1:n.*552C>G
ENST00000634620.1:n.4195C>G
ENST00000634810.1:n.2796C>G
ENST00000634844.1:c.3307C>G	ENSP00000489398.1:p.Arg1103Gly
NM_000053.3:c.3451C>G	NP_000044.2:p.Arg1151Gly
NM_001005918.2:c.2830C>G	NP_001005918.1:p.Arg944Gly
NM_001243182.1:c.3118C>G	NP_001230111.1:p.Arg1040Gly
XM_005266423.2:c.3355C>G	XP_005266480.1:p.Arg1119Gly
XM_005266424.3:c.3355C>G	XP_005266481.1:p.Arg1119Gly
XM_005266427.2:c.3217C>G	XP_005266484.1:p.Arg1073Gly
XM_005266428.1:c.3199C>G	XP_005266485.1:p.Arg1067Gly
XM_005266430.3:c.3451C>G	XP_005266487.1:p.Arg1151Gly
XM_005266431.2:c.3415C>G	XP_005266488.1:p.Arg1139Gly
XM_005266432.2:c.2965C>G	XP_005266489.1:p.Arg989Gly
XM_006719837.2:c.3355C>G	XP_006719900.1:p.Arg1119Gly
XM_006719838.1:c.1267C>G	XP_006719901.1:p.Arg423Gly
XM_006719839.1:c.1084C>G	XP_006719902.1:p.Arg362Gly
XM_011535117.1:c.3355C>G	XP_011533419.1:p.Arg1119Gly
XM_011535118.1:c.3316C>G	XP_011533420.1:p.Arg1106Gly
XM_011535119.1:c.3268C>G	XP_011533421.1:p.Arg1090Gly
XM_011535120.1:c.3037C>G	XP_011533422.1:p.Arg1013Gly
XM_011535121.1:c.2938C>G	XP_011533423.1:p.Arg980Gly
XM_011535122.1:c.2119C>G	XP_011533424.1:p.Arg707Gly
XR_941601.1:n.3670C>G
XR_941602.1:n.3670C>G
XR_941603.1:n.3670C>G
XR_941604.1:n.3670C>G
NM_001330578.1:c.3217C>G	NP_001317507.1:p.Arg1073Gly
NM_001330579.1:c.3199C>G	NP_001317508.1:p.Arg1067Gly
XM_005266424.4:c.3355C>G	XP_005266481.1:p.Arg1119Gly
XM_005266430.4:c.3451C>G	XP_005266487.1:p.Arg1151Gly
XM_005266431.4:c.3415C>G	XP_005266488.1:p.Arg1139Gly
XM_006719837.3:c.3355C>G	XP_006719900.1:p.Arg1119Gly
XM_011535117.3:c.3355C>G	XP_011533419.1:p.Arg1119Gly
XM_017020627.1:c.3355C>G	XP_016876116.1:p.Arg1119Gly
NM_000053.4:c.3451C>G MANE Select	NP_000044.2:p.Arg1151Gly
NM_001005918.3:c.2830C>G	NP_001005918.1:p.Arg944Gly
NM_001330579.2:c.3199C>G	NP_001317508.1:p.Arg1067Gly
NM_001243182.2:c.3118C>G	NP_001230111.1:p.Arg1040Gly
NM_001330578.2:c.3217C>G	NP_001317507.1:p.Arg1073Gly