Canonical Allele Identifier: CA277238

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 210418
• ClinVar RCV Id: RCV001857689 ; RCV002517916 ; RCV003227709
• dbSNP Id: rs72554644
• gnomAD v4: X-78012885-G-A
• MyVariant Identifiers: chrX:g.77268382G>A (hg19) ; chrX:g.78012885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78012885G>A , CM000685.2:g.78012885G>A	GRCh38
NC_000023.10:g.77268382G>A , CM000685.1:g.77268382G>A	GRCh37
NC_000023.9:g.77155038G>A	NCBI36
NG_013224.2:g.107189G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2209G>A (ATP7A)	ENSP00000343026.6:p.Gly737Arg
ENST00000682475.1:n.823+1211G>A (ATP7A)
ENST00000685264.1:c.2179G>A (ATP7A)	ENSP00000510136.1:p.Gly727Arg
ENST00000686033.1:c.2179G>A (ATP7A)	ENSP00000510693.1:p.Gly727Arg
ENST00000686133.1:c.2179G>A (ATP7A)	ENSP00000509233.1:p.Gly727Arg
ENST00000686255.1:n.1210G>A (ATP7A)
ENST00000686480.1:c.2172+1211G>A (ATP7A)	ENSP00000508978.1:n.2172+1211G>A
ENST00000686543.1:c.2172+1211G>A (ATP7A)	ENSP00000509477.1:n.2172+1211G>A
ENST00000686688.1:c.2179G>A (ATP7A)	ENSP00000509416.1:p.Gly727Arg
ENST00000687086.1:c.2179G>A (ATP7A)	ENSP00000509566.1:p.Gly727Arg
ENST00000688746.1:n.3535G>A (ATP7A)
ENST00000689514.1:n.221G>A (ATP7A)
ENST00000689530.1:c.2179G>A (ATP7A)	ENSP00000509707.1:p.Gly727Arg
ENST00000689649.1:c.2179G>A (ATP7A)	ENSP00000509277.1:p.Gly727Arg
ENST00000689767.1:c.2272G>A (ATP7A)	ENSP00000509406.1:p.Gly758Arg
ENST00000689872.1:c.*128G>A (ATP7A)	ENSP00000509373.1:n.*128G>A
ENST00000692908.1:c.2172+1211G>A (ATP7A)	ENSP00000508627.1:n.2172+1211G>A
ENST00000693398.1:c.2179G>A (ATP7A)	ENSP00000510089.1:p.Gly727Arg
ENST00000341514.11:c.2179G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Gly727Arg
ENST00000644362.1:c.-19-96982G>A (PGK1)	ENSP00000496140.1:n.-19-96982G>A
ENST00000645094.1:c.*2093G>A (ATP7A)	ENSP00000493605.1:n.*2093G>A
ENST00000341514.10:c.2179G>A (ATP7A)	ENSP00000345728.6:p.Gly727Arg
ENST00000343533.9:c.2172+1211G>A (ATP7A)	ENSP00000343026.5:n.2172+1211G>A
ENST00000350425.5:c.*1352G>A (ATP7A)	ENSP00000343678.5:n.*1352G>A
NM_000052.6:c.2179G>A (ATP7A)	NP_000043.4:p.Gly727Arg
NM_001282224.1:c.2172+1211G>A (ATP7A)	NP_001269153.1:n.2172+1211G>A
NR_104109.1:n.322-18515G>A (ATP7A)
NM_000052.7:c.2179G>A (ATP7A) MANE Select	NP_000043.4:p.Gly727Arg
NR_104109.2:n.285-18515G>A (ATP7A)
NM_001282224.2:c.2172+1211G>A (ATP7A)	NP_001269153.1:n.2172+1211G>A