Canonical Allele Identifier: CA413597061

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 654204
• ClinVar RCV Id: RCV000810116
• dbSNP Id: rs1603384813
• MyVariant Identifiers: chrX:g.77264658C>G (hg19) ; chrX:g.78009161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009161C>G , CM000685.2:g.78009161C>G	GRCh38
NC_000023.10:g.77264658C>G , CM000685.1:g.77264658C>G	GRCh37
NC_000023.9:g.77151314C>G	NCBI36
NG_013224.2:g.103465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1797C>G (ATP7A)	ENSP00000343026.6:p.His599Gln
ENST00000682742.2:n.1929C>G (ATP7A)
ENST00000685264.1:c.1767C>G (ATP7A)	ENSP00000510136.1:p.His589Gln
ENST00000685434.1:n.1801C>G (ATP7A)
ENST00000686033.1:c.1767C>G (ATP7A)	ENSP00000510693.1:p.His589Gln
ENST00000686133.1:c.1767C>G (ATP7A)	ENSP00000509233.1:p.His589Gln
ENST00000686416.1:n.2121C>G (ATP7A)
ENST00000686480.1:c.1767C>G (ATP7A)	ENSP00000508978.1:p.His589Gln
ENST00000686515.1:n.1907C>G (ATP7A)
ENST00000686543.1:c.1767C>G (ATP7A)	ENSP00000509477.1:p.His589Gln
ENST00000686688.1:c.1767C>G (ATP7A)	ENSP00000509416.1:p.His589Gln
ENST00000686999.1:n.2078C>G (ATP7A)
ENST00000687086.1:c.1767C>G (ATP7A)	ENSP00000509566.1:p.His589Gln
ENST00000687628.1:n.1868C>G (ATP7A)
ENST00000688746.1:n.1919C>G (ATP7A)
ENST00000689530.1:c.1767C>G (ATP7A)	ENSP00000509707.1:p.His589Gln
ENST00000689541.1:n.2076C>G (ATP7A)
ENST00000689649.1:c.1767C>G (ATP7A)	ENSP00000509277.1:p.His589Gln
ENST00000689767.1:c.1860C>G (ATP7A)	ENSP00000509406.1:p.His620Gln
ENST00000689872.1:c.1767C>G (ATP7A)	ENSP00000509373.1:p.His589Gln
ENST00000692110.1:c.1683C>G (ATP7A)	ENSP00000509366.1:p.His561Gln
ENST00000692908.1:c.1767C>G (ATP7A)	ENSP00000508627.1:p.His589Gln
ENST00000693387.1:c.*1696C>G (ATP7A)	ENSP00000508732.1:n.*1696C>G
ENST00000693398.1:c.1767C>G (ATP7A)	ENSP00000510089.1:p.His589Gln
ENST00000341514.11:c.1767C>G (ATP7A) MANE Select	ENSP00000345728.6:p.His589Gln
ENST00000644362.1:c.-20+98326C>G (PGK1)	ENSP00000496140.1:n.-20+98326C>G
ENST00000645094.1:c.*1681C>G (ATP7A)	ENSP00000493605.1:n.*1681C>G
ENST00000341514.10:c.1767C>G (ATP7A)	ENSP00000345728.6:p.His589Gln
ENST00000343533.9:c.1767C>G (ATP7A)	ENSP00000343026.5:p.His589Gln
ENST00000350425.5:c.*940C>G (ATP7A)	ENSP00000343678.5:n.*940C>G
NM_000052.6:c.1767C>G (ATP7A)	NP_000043.4:p.His589Gln
NM_001282224.1:c.1767C>G (ATP7A)	NP_001269153.1:p.His589Gln
NR_104109.1:n.322-22239C>G (ATP7A)
NM_000052.7:c.1767C>G (ATP7A) MANE Select	NP_000043.4:p.His589Gln
NR_104109.2:n.285-22239C>G (ATP7A)
NM_001282224.2:c.1767C>G (ATP7A)	NP_001269153.1:p.His589Gln