Canonical Allele Identifier: CA413602820

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276501T>G (hg19) ; chrX:g.78021004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021004T>G , CM000685.2:g.78021004T>G	GRCh38
NC_000023.10:g.77276501T>G , CM000685.1:g.77276501T>G	GRCh37
NC_000023.9:g.77163157T>G	NCBI36
NG_013224.2:g.115308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2871T>G (ATP7A)	ENSP00000343026.6:p.Phe957Leu
ENST00000682475.1:n.1258T>G (ATP7A)
ENST00000685033.1:c.375+606T>G (ATP7A)	ENSP00000509269.1:n.375+606T>G
ENST00000685264.1:c.2841T>G (ATP7A)	ENSP00000510136.1:p.Phe947Leu
ENST00000686033.1:c.2841T>G (ATP7A)	ENSP00000510693.1:p.Phe947Leu
ENST00000686133.1:c.2841T>G (ATP7A)	ENSP00000509233.1:p.Phe947Leu
ENST00000686255.1:n.1872T>G (ATP7A)
ENST00000686543.1:c.2607T>G (ATP7A)	ENSP00000509477.1:p.Phe869Leu
ENST00000687086.1:c.2841T>G (ATP7A)	ENSP00000509566.1:p.Phe947Leu
ENST00000689514.1:n.883T>G (ATP7A)
ENST00000689530.1:c.2841T>G (ATP7A)	ENSP00000509707.1:p.Phe947Leu
ENST00000689767.1:c.2934T>G (ATP7A)	ENSP00000509406.1:p.Phe978Leu
ENST00000692908.1:c.2607T>G (ATP7A)	ENSP00000508627.1:p.Phe869Leu
ENST00000341514.11:c.2841T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Phe947Leu
ENST00000644362.1:c.-19-88863T>G (PGK1)	ENSP00000496140.1:n.-19-88863T>G
ENST00000645094.1:c.*2755T>G (ATP7A)	ENSP00000493605.1:n.*2755T>G
ENST00000341514.10:c.2841T>G (ATP7A)	ENSP00000345728.6:p.Phe947Leu
ENST00000343533.9:c.2607T>G (ATP7A)	ENSP00000343026.5:p.Phe869Leu
ENST00000350425.5:c.*2014T>G (ATP7A)	ENSP00000343678.5:n.*2014T>G
NM_000052.6:c.2841T>G (ATP7A)	NP_000043.4:p.Phe947Leu
NM_001282224.1:c.2607T>G (ATP7A)	NP_001269153.1:p.Phe869Leu
NR_104109.1:n.322-10396T>G (ATP7A)
NM_000052.7:c.2841T>G (ATP7A) MANE Select	NP_000043.4:p.Phe947Leu
NR_104109.2:n.285-10396T>G (ATP7A)
NM_001282224.2:c.2607T>G (ATP7A)	NP_001269153.1:p.Phe869Leu