Canonical Allele Identifier: CA413602785

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1557235712
• gnomAD v2: X-77276484-G-C
• MyVariant Identifiers: chrX:g.77276484G>C (hg19) ; chrX:g.78020987G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2854G>C (ATP7A)	ENSP00000343026.6:p.Val952Leu
ENST00000682475.1:n.1241G>C (ATP7A)
ENST00000685033.1:c.375+589G>C (ATP7A)	ENSP00000509269.1:n.375+589G>C
ENST00000685264.1:c.2824G>C (ATP7A)	ENSP00000510136.1:p.Val942Leu
ENST00000686033.1:c.2824G>C (ATP7A)	ENSP00000510693.1:p.Val942Leu
ENST00000686133.1:c.2824G>C (ATP7A)	ENSP00000509233.1:p.Val942Leu
ENST00000686255.1:n.1855G>C (ATP7A)
ENST00000686543.1:c.2590G>C (ATP7A)	ENSP00000509477.1:p.Val864Leu
ENST00000687086.1:c.2824G>C (ATP7A)	ENSP00000509566.1:p.Val942Leu
ENST00000689514.1:n.866G>C (ATP7A)
ENST00000689530.1:c.2824G>C (ATP7A)	ENSP00000509707.1:p.Val942Leu
ENST00000689767.1:c.2917G>C (ATP7A)	ENSP00000509406.1:p.Val973Leu
ENST00000692908.1:c.2590G>C (ATP7A)	ENSP00000508627.1:p.Val864Leu
ENST00000341514.11:c.2824G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Val942Leu
ENST00000644362.1:c.-19-88880G>C (PGK1)	ENSP00000496140.1:n.-19-88880G>C
ENST00000645094.1:c.*2738G>C (ATP7A)	ENSP00000493605.1:n.*2738G>C
ENST00000341514.10:c.2824G>C (ATP7A)	ENSP00000345728.6:p.Val942Leu
ENST00000343533.9:c.2590G>C (ATP7A)	ENSP00000343026.5:p.Val864Leu
ENST00000350425.5:c.*1997G>C (ATP7A)	ENSP00000343678.5:n.*1997G>C
NM_000052.6:c.2824G>C (ATP7A)	NP_000043.4:p.Val942Leu
NM_001282224.1:c.2590G>C (ATP7A)	NP_001269153.1:p.Val864Leu
NR_104109.1:n.322-10413G>C (ATP7A)
NM_000052.7:c.2824G>C (ATP7A) MANE Select	NP_000043.4:p.Val942Leu
NR_104109.2:n.285-10413G>C (ATP7A)
NM_001282224.2:c.2590G>C (ATP7A)	NP_001269153.1:p.Val864Leu