Canonical Allele Identifier: CA413602784

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276484G>T (hg19) ; chrX:g.78020987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78020987G>T , CM000685.2:g.78020987G>T	GRCh38
NC_000023.10:g.77276484G>T , CM000685.1:g.77276484G>T	GRCh37
NC_000023.9:g.77163140G>T	NCBI36
NG_013224.2:g.115291G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2854G>T (ATP7A)	ENSP00000343026.6:p.Val952Phe
ENST00000682475.1:n.1241G>T (ATP7A)
ENST00000685033.1:c.375+589G>T (ATP7A)	ENSP00000509269.1:n.375+589G>T
ENST00000685264.1:c.2824G>T (ATP7A)	ENSP00000510136.1:p.Val942Phe
ENST00000686033.1:c.2824G>T (ATP7A)	ENSP00000510693.1:p.Val942Phe
ENST00000686133.1:c.2824G>T (ATP7A)	ENSP00000509233.1:p.Val942Phe
ENST00000686255.1:n.1855G>T (ATP7A)
ENST00000686543.1:c.2590G>T (ATP7A)	ENSP00000509477.1:p.Val864Phe
ENST00000687086.1:c.2824G>T (ATP7A)	ENSP00000509566.1:p.Val942Phe
ENST00000689514.1:n.866G>T (ATP7A)
ENST00000689530.1:c.2824G>T (ATP7A)	ENSP00000509707.1:p.Val942Phe
ENST00000689767.1:c.2917G>T (ATP7A)	ENSP00000509406.1:p.Val973Phe
ENST00000692908.1:c.2590G>T (ATP7A)	ENSP00000508627.1:p.Val864Phe
ENST00000341514.11:c.2824G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Val942Phe
ENST00000644362.1:c.-19-88880G>T (PGK1)	ENSP00000496140.1:n.-19-88880G>T
ENST00000645094.1:c.*2738G>T (ATP7A)	ENSP00000493605.1:n.*2738G>T
ENST00000341514.10:c.2824G>T (ATP7A)	ENSP00000345728.6:p.Val942Phe
ENST00000343533.9:c.2590G>T (ATP7A)	ENSP00000343026.5:p.Val864Phe
ENST00000350425.5:c.*1997G>T (ATP7A)	ENSP00000343678.5:n.*1997G>T
NM_000052.6:c.2824G>T (ATP7A)	NP_000043.4:p.Val942Phe
NM_001282224.1:c.2590G>T (ATP7A)	NP_001269153.1:p.Val864Phe
NR_104109.1:n.322-10413G>T (ATP7A)
NM_000052.7:c.2824G>T (ATP7A) MANE Select	NP_000043.4:p.Val942Phe
NR_104109.2:n.285-10413G>T (ATP7A)
NM_001282224.2:c.2590G>T (ATP7A)	NP_001269153.1:p.Val864Phe