Canonical Allele Identifier: CA388028758

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1459893
• ClinVar RCV Id: RCV001951314
• dbSNP Id: rs1957397703
• MyVariant Identifiers: chr13:g.52516652G>T (hg19) ; chr13:g.51942516G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942516G>T , CM000675.2:g.51942516G>T	GRCh38
NC_000013.10:g.52516652G>T , CM000675.1:g.52516652G>T	GRCh37
NC_000013.9:g.51414653G>T	NCBI36
NG_008806.1:g.73979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*932C>A	ENSP00000489512.2:n.*932C>A
ENST00000673864.2:c.*2026C>A	ENSP00000501045.2:n.*2026C>A
ENST00000674147.2:c.2661C>A	ENSP00000500964.2:p.Phe887Leu
ENST00000242839.10:c.3282C>A MANE Select	ENSP00000242839.5:p.Phe1094Leu
ENST00000344297.9:c.2661C>A	ENSP00000342559.5:p.Phe887Leu
ENST00000400366.6:c.2949C>A	ENSP00000383217.3:p.Phe983Leu
ENST00000448424.7:c.3030C>A	ENSP00000416738.3:p.Phe1010Leu
ENST00000673772.1:c.3048C>A	ENSP00000501168.1:p.Phe1016Leu
ENST00000673867.1:n.3421C>A
ENST00000674126.1:n.3645C>A
ENST00000674147.1:c.2217C>A	ENSP00000500964.1:p.Phe739Leu
ENST00000242839.8:c.3282C>A	ENSP00000242839.4:p.Phe1094Leu
ENST00000344297.8:c.2661C>A	ENSP00000342559.5:p.Phe887Leu
ENST00000400366.5:c.2949C>A	ENSP00000383217.3:p.Phe983Leu
ENST00000400370.8:c.1992C>A	ENSP00000383221.3:p.Phe664Leu
ENST00000418097.7:c.3087C>A	ENSP00000393343.2:p.Phe1029Leu
ENST00000448424.6:c.3048C>A	ENSP00000416738.2:p.Phe1016Leu
ENST00000634296.1:c.1060C>A
ENST00000634308.1:c.*383C>A	ENSP00000489234.1:n.*383C>A
ENST00000634620.1:n.4026C>A
ENST00000634810.1:n.2627C>A
ENST00000634844.1:c.3138C>A	ENSP00000489398.1:p.Phe1046Leu
NM_000053.3:c.3282C>A	NP_000044.2:p.Phe1094Leu
NM_001005918.2:c.2661C>A	NP_001005918.1:p.Phe887Leu
NM_001243182.1:c.2949C>A	NP_001230111.1:p.Phe983Leu
XM_005266423.2:c.3186C>A	XP_005266480.1:p.Phe1062Leu
XM_005266424.3:c.3186C>A	XP_005266481.1:p.Phe1062Leu
XM_005266427.2:c.3048C>A	XP_005266484.1:p.Phe1016Leu
XM_005266428.1:c.3030C>A	XP_005266485.1:p.Phe1010Leu
XM_005266430.3:c.3282C>A	XP_005266487.1:p.Phe1094Leu
XM_005266431.2:c.3246C>A	XP_005266488.1:p.Phe1082Leu
XM_005266432.2:c.2796C>A	XP_005266489.1:p.Phe932Leu
XM_006719837.2:c.3186C>A	XP_006719900.1:p.Phe1062Leu
XM_006719838.1:c.1098C>A	XP_006719901.1:p.Phe366Leu
XM_006719839.1:c.915C>A	XP_006719902.1:p.Phe305Leu
XM_011535117.1:c.3186C>A	XP_011533419.1:p.Phe1062Leu
XM_011535118.1:c.3147C>A	XP_011533420.1:p.Phe1049Leu
XM_011535119.1:c.3099C>A	XP_011533421.1:p.Phe1033Leu
XM_011535120.1:c.2868C>A	XP_011533422.1:p.Phe956Leu
XM_011535121.1:c.2769C>A	XP_011533423.1:p.Phe923Leu
XM_011535122.1:c.1950C>A	XP_011533424.1:p.Phe650Leu
XR_941601.1:n.3501C>A
XR_941602.1:n.3501C>A
XR_941603.1:n.3501C>A
XR_941604.1:n.3501C>A
NM_001330578.1:c.3048C>A	NP_001317507.1:p.Phe1016Leu
NM_001330579.1:c.3030C>A	NP_001317508.1:p.Phe1010Leu
XM_005266424.4:c.3186C>A	XP_005266481.1:p.Phe1062Leu
XM_005266430.4:c.3282C>A	XP_005266487.1:p.Phe1094Leu
XM_005266431.4:c.3246C>A	XP_005266488.1:p.Phe1082Leu
XM_006719837.3:c.3186C>A	XP_006719900.1:p.Phe1062Leu
XM_011535117.3:c.3186C>A	XP_011533419.1:p.Phe1062Leu
XM_017020627.1:c.3186C>A	XP_016876116.1:p.Phe1062Leu
NM_000053.4:c.3282C>A MANE Select	NP_000044.2:p.Phe1094Leu
NM_001005918.3:c.2661C>A	NP_001005918.1:p.Phe887Leu
NM_001330579.2:c.3030C>A	NP_001317508.1:p.Phe1010Leu
NM_001243182.2:c.2949C>A	NP_001230111.1:p.Phe983Leu
NM_001330578.2:c.3048C>A	NP_001317507.1:p.Phe1016Leu