Canonical Allele Identifier: CA413595110

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2928898
• ClinVar RCV Id: RCV003781624
• gnomAD v4: X-77998664-G-A
• COSMIC: COSM5513826 ; COSM5513827
• MyVariant Identifiers: chrX:g.77254161G>A (hg19) ; chrX:g.77998664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77998664G>A , CM000685.2:g.77998664G>A	GRCh38
NC_000023.10:g.77254161G>A , CM000685.1:g.77254161G>A	GRCh37
NC_000023.9:g.77140817G>A	NCBI36
NG_013224.2:g.92968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1553G>A (ATP7A)	ENSP00000343026.6:p.Arg518Gln
ENST00000682742.2:n.1685G>A (ATP7A)
ENST00000685264.1:c.1523G>A (ATP7A)	ENSP00000510136.1:p.Arg508Gln
ENST00000685434.1:n.1557G>A (ATP7A)
ENST00000686033.1:c.1523G>A (ATP7A)	ENSP00000510693.1:p.Arg508Gln
ENST00000686133.1:c.1523G>A (ATP7A)	ENSP00000509233.1:p.Arg508Gln
ENST00000686416.1:n.1877G>A (ATP7A)
ENST00000686480.1:c.1523G>A (ATP7A)	ENSP00000508978.1:p.Arg508Gln
ENST00000686515.1:n.1663G>A (ATP7A)
ENST00000686543.1:c.1523G>A (ATP7A)	ENSP00000509477.1:p.Arg508Gln
ENST00000686688.1:c.1523G>A (ATP7A)	ENSP00000509416.1:p.Arg508Gln
ENST00000686999.1:n.1834G>A (ATP7A)
ENST00000687086.1:c.1523G>A (ATP7A)	ENSP00000509566.1:p.Arg508Gln
ENST00000687416.1:c.1523G>A (ATP7A)	ENSP00000510310.1:p.Arg508Gln
ENST00000687628.1:n.1624G>A (ATP7A)
ENST00000688249.1:c.1523G>A (ATP7A)	ENSP00000510644.1:p.Arg508Gln
ENST00000688338.1:c.1523G>A (ATP7A)	ENSP00000508672.1:p.Arg508Gln
ENST00000688746.1:n.1675G>A (ATP7A)
ENST00000689530.1:c.1523G>A (ATP7A)	ENSP00000509707.1:p.Arg508Gln
ENST00000689541.1:n.1832G>A (ATP7A)
ENST00000689649.1:c.1523G>A (ATP7A)	ENSP00000509277.1:p.Arg508Gln
ENST00000689767.1:c.1523G>A (ATP7A)	ENSP00000509406.1:p.Arg508Gln
ENST00000689872.1:c.1523G>A (ATP7A)	ENSP00000509373.1:p.Arg508Gln
ENST00000691456.1:n.1814G>A (ATP7A)
ENST00000692110.1:c.1439G>A (ATP7A)	ENSP00000509366.1:p.Arg480Gln
ENST00000692908.1:c.1523G>A (ATP7A)	ENSP00000508627.1:p.Arg508Gln
ENST00000693051.1:c.1523G>A (ATP7A)	ENSP00000510332.1:p.Arg508Gln
ENST00000693387.1:c.*1452G>A (ATP7A)	ENSP00000508732.1:n.*1452G>A
ENST00000693398.1:c.1523G>A (ATP7A)	ENSP00000510089.1:p.Arg508Gln
ENST00000341514.11:c.1523G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Arg508Gln
ENST00000644362.1:c.-20+87829G>A (PGK1)	ENSP00000496140.1:n.-20+87829G>A
ENST00000645094.1:c.*1437G>A (ATP7A)	ENSP00000493605.1:n.*1437G>A
ENST00000341514.10:c.1523G>A (ATP7A)	ENSP00000345728.6:p.Arg508Gln
ENST00000343533.9:c.1523G>A (ATP7A)	ENSP00000343026.5:p.Arg508Gln
ENST00000350425.5:c.*696G>A (ATP7A)	ENSP00000343678.5:n.*696G>A
NM_000052.6:c.1523G>A (ATP7A)	NP_000043.4:p.Arg508Gln
NM_001282224.1:c.1523G>A (ATP7A)	NP_001269153.1:p.Arg508Gln
NR_104109.1:n.321+26903G>A (ATP7A)
NM_000052.7:c.1523G>A (ATP7A) MANE Select	NP_000043.4:p.Arg508Gln
NR_104109.2:n.284+26903G>A (ATP7A)
NM_001282224.2:c.1523G>A (ATP7A)	NP_001269153.1:p.Arg508Gln