Canonical Allele Identifier: CA413597265

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1717832
• ClinVar RCV Id: RCV002297832
• MyVariant Identifiers: chrX:g.77264699A>G (hg19) ; chrX:g.78009202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009202A>G , CM000685.2:g.78009202A>G	GRCh38
NC_000023.10:g.77264699A>G , CM000685.1:g.77264699A>G	GRCh37
NC_000023.9:g.77151355A>G	NCBI36
NG_013224.2:g.103506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1838A>G (ATP7A)	ENSP00000343026.6:p.Lys613Arg
ENST00000682742.2:n.1970A>G (ATP7A)
ENST00000685264.1:c.1808A>G (ATP7A)	ENSP00000510136.1:p.Lys603Arg
ENST00000685434.1:n.1842A>G (ATP7A)
ENST00000686033.1:c.1808A>G (ATP7A)	ENSP00000510693.1:p.Lys603Arg
ENST00000686133.1:c.1808A>G (ATP7A)	ENSP00000509233.1:p.Lys603Arg
ENST00000686416.1:n.2162A>G (ATP7A)
ENST00000686480.1:c.1808A>G (ATP7A)	ENSP00000508978.1:p.Lys603Arg
ENST00000686515.1:n.1948A>G (ATP7A)
ENST00000686543.1:c.1808A>G (ATP7A)	ENSP00000509477.1:p.Lys603Arg
ENST00000686688.1:c.1808A>G (ATP7A)	ENSP00000509416.1:p.Lys603Arg
ENST00000686999.1:n.2119A>G (ATP7A)
ENST00000687086.1:c.1808A>G (ATP7A)	ENSP00000509566.1:p.Lys603Arg
ENST00000687628.1:n.1909A>G (ATP7A)
ENST00000688746.1:n.1960A>G (ATP7A)
ENST00000689530.1:c.1808A>G (ATP7A)	ENSP00000509707.1:p.Lys603Arg
ENST00000689541.1:n.2117A>G (ATP7A)
ENST00000689649.1:c.1808A>G (ATP7A)	ENSP00000509277.1:p.Lys603Arg
ENST00000689767.1:c.1901A>G (ATP7A)	ENSP00000509406.1:p.Lys634Arg
ENST00000689872.1:c.1808A>G (ATP7A)	ENSP00000509373.1:p.Lys603Arg
ENST00000692110.1:c.1724A>G (ATP7A)	ENSP00000509366.1:p.Lys575Arg
ENST00000692908.1:c.1808A>G (ATP7A)	ENSP00000508627.1:p.Lys603Arg
ENST00000693387.1:c.*1737A>G (ATP7A)	ENSP00000508732.1:n.*1737A>G
ENST00000693398.1:c.1808A>G (ATP7A)	ENSP00000510089.1:p.Lys603Arg
ENST00000341514.11:c.1808A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Lys603Arg
ENST00000644362.1:c.-20+98367A>G (PGK1)	ENSP00000496140.1:n.-20+98367A>G
ENST00000645094.1:c.*1722A>G (ATP7A)	ENSP00000493605.1:n.*1722A>G
ENST00000341514.10:c.1808A>G (ATP7A)	ENSP00000345728.6:p.Lys603Arg
ENST00000343533.9:c.1808A>G (ATP7A)	ENSP00000343026.5:p.Lys603Arg
ENST00000350425.5:c.*981A>G (ATP7A)	ENSP00000343678.5:n.*981A>G
NM_000052.6:c.1808A>G (ATP7A)	NP_000043.4:p.Lys603Arg
NM_001282224.1:c.1808A>G (ATP7A)	NP_001269153.1:p.Lys603Arg
NR_104109.1:n.322-22198A>G (ATP7A)
NM_000052.7:c.1808A>G (ATP7A) MANE Select	NP_000043.4:p.Lys603Arg
NR_104109.2:n.285-22198A>G (ATP7A)
NM_001282224.2:c.1808A>G (ATP7A)	NP_001269153.1:p.Lys603Arg