Canonical Allele Identifier: CA413602787

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276485T>C (hg19) ; chrX:g.78020988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78020988T>C , CM000685.2:g.78020988T>C	GRCh38
NC_000023.10:g.77276485T>C , CM000685.1:g.77276485T>C	GRCh37
NC_000023.9:g.77163141T>C	NCBI36
NG_013224.2:g.115292T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2855T>C (ATP7A)	ENSP00000343026.6:p.Val952Ala
ENST00000682475.1:n.1242T>C (ATP7A)
ENST00000685033.1:c.375+590T>C (ATP7A)	ENSP00000509269.1:n.375+590T>C
ENST00000685264.1:c.2825T>C (ATP7A)	ENSP00000510136.1:p.Val942Ala
ENST00000686033.1:c.2825T>C (ATP7A)	ENSP00000510693.1:p.Val942Ala
ENST00000686133.1:c.2825T>C (ATP7A)	ENSP00000509233.1:p.Val942Ala
ENST00000686255.1:n.1856T>C (ATP7A)
ENST00000686543.1:c.2591T>C (ATP7A)	ENSP00000509477.1:p.Val864Ala
ENST00000687086.1:c.2825T>C (ATP7A)	ENSP00000509566.1:p.Val942Ala
ENST00000689514.1:n.867T>C (ATP7A)
ENST00000689530.1:c.2825T>C (ATP7A)	ENSP00000509707.1:p.Val942Ala
ENST00000689767.1:c.2918T>C (ATP7A)	ENSP00000509406.1:p.Val973Ala
ENST00000692908.1:c.2591T>C (ATP7A)	ENSP00000508627.1:p.Val864Ala
ENST00000341514.11:c.2825T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Val942Ala
ENST00000644362.1:c.-19-88879T>C (PGK1)	ENSP00000496140.1:n.-19-88879T>C
ENST00000645094.1:c.*2739T>C (ATP7A)	ENSP00000493605.1:n.*2739T>C
ENST00000341514.10:c.2825T>C (ATP7A)	ENSP00000345728.6:p.Val942Ala
ENST00000343533.9:c.2591T>C (ATP7A)	ENSP00000343026.5:p.Val864Ala
ENST00000350425.5:c.*1998T>C (ATP7A)	ENSP00000343678.5:n.*1998T>C
NM_000052.6:c.2825T>C (ATP7A)	NP_000043.4:p.Val942Ala
NM_001282224.1:c.2591T>C (ATP7A)	NP_001269153.1:p.Val864Ala
NR_104109.1:n.322-10412T>C (ATP7A)
NM_000052.7:c.2825T>C (ATP7A) MANE Select	NP_000043.4:p.Val942Ala
NR_104109.2:n.285-10412T>C (ATP7A)
NM_001282224.2:c.2591T>C (ATP7A)	NP_001269153.1:p.Val864Ala