Canonical Allele Identifier: CA517464109

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77244169A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77988673A>C , CM000685.2:g.77988673A>C	GRCh38
NC_000023.10:g.77244169A>C , CM000685.1:g.77244169A>C	GRCh37
NC_000023.9:g.77130825A>C	NCBI36
NG_013224.2:g.82977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.582A>C (ATP7A)	ENSP00000343026.6:p.Ser194=
ENST00000682742.2:n.714A>C (ATP7A)
ENST00000685208.1:n.714A>C (ATP7A)
ENST00000685264.1:c.552A>C (ATP7A)	ENSP00000510136.1:p.Ser184=
ENST00000685434.1:n.670A>C (ATP7A)
ENST00000685885.1:c.588A>C (ATP7A)	ENSP00000510005.1:p.Ser196=
ENST00000686033.1:c.552A>C (ATP7A)	ENSP00000510693.1:p.Ser184=
ENST00000686133.1:c.552A>C (ATP7A)	ENSP00000509233.1:p.Ser184=
ENST00000686416.1:n.906A>C (ATP7A)
ENST00000686480.1:c.552A>C (ATP7A)	ENSP00000508978.1:p.Ser184=
ENST00000686515.1:n.692A>C (ATP7A)
ENST00000686543.1:c.552A>C (ATP7A)	ENSP00000509477.1:p.Ser184=
ENST00000686688.1:c.552A>C (ATP7A)	ENSP00000509416.1:p.Ser184=
ENST00000686999.1:n.863A>C (ATP7A)
ENST00000687082.1:n.670A>C (ATP7A)
ENST00000687086.1:c.552A>C (ATP7A)	ENSP00000509566.1:p.Ser184=
ENST00000687325.1:n.855A>C (ATP7A)
ENST00000687416.1:c.552A>C (ATP7A)	ENSP00000510310.1:p.Ser184=
ENST00000687599.1:c.552A>C (ATP7A)	ENSP00000508745.1:p.Ser184=
ENST00000687628.1:n.653A>C (ATP7A)
ENST00000687984.1:c.552A>C (ATP7A)	ENSP00000510772.1:p.Ser184=
ENST00000688249.1:c.552A>C (ATP7A)	ENSP00000510644.1:p.Ser184=
ENST00000688338.1:c.552A>C (ATP7A)	ENSP00000508672.1:p.Ser184=
ENST00000688746.1:n.704A>C (ATP7A)
ENST00000688889.1:c.*466A>C (ATP7A)	ENSP00000508610.1:n.*466A>C
ENST00000689530.1:c.552A>C (ATP7A)	ENSP00000509707.1:p.Ser184=
ENST00000689541.1:n.861A>C (ATP7A)
ENST00000689649.1:c.552A>C (ATP7A)	ENSP00000509277.1:p.Ser184=
ENST00000689767.1:c.552A>C (ATP7A)	ENSP00000509406.1:p.Ser184=
ENST00000689872.1:c.552A>C (ATP7A)	ENSP00000509373.1:p.Ser184=
ENST00000689891.1:c.552A>C (ATP7A)	ENSP00000508974.1:p.Ser184=
ENST00000691152.1:c.552A>C (ATP7A)	ENSP00000508843.1:p.Ser184=
ENST00000691456.1:n.843A>C (ATP7A)
ENST00000692110.1:c.552A>C (ATP7A)	ENSP00000509366.1:p.Ser184=
ENST00000692908.1:c.552A>C (ATP7A)	ENSP00000508627.1:p.Ser184=
ENST00000693051.1:c.552A>C (ATP7A)	ENSP00000510332.1:p.Ser184=
ENST00000693387.1:c.*481A>C (ATP7A)	ENSP00000508732.1:n.*481A>C
ENST00000693398.1:c.552A>C (ATP7A)	ENSP00000510089.1:p.Ser184=
ENST00000341514.11:c.552A>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ser184=
ENST00000644362.1:c.-20+77838A>C (PGK1)	ENSP00000496140.1:n.-20+77838A>C
ENST00000645094.1:c.*466A>C (ATP7A)	ENSP00000493605.1:n.*466A>C
ENST00000341514.10:c.552A>C (ATP7A)	ENSP00000345728.6:p.Ser184=
ENST00000343533.9:c.552A>C (ATP7A)	ENSP00000343026.5:p.Ser184=
ENST00000350425.5:c.552A>C (ATP7A)	ENSP00000343678.5:p.Ser184=
NM_000052.6:c.552A>C (ATP7A)	NP_000043.4:p.Ser184=
NM_001282224.1:c.552A>C (ATP7A)	NP_001269153.1:p.Ser184=
NR_104109.1:n.321+16912A>C (ATP7A)
NM_000052.7:c.552A>C (ATP7A) MANE Select	NP_000043.4:p.Ser184=
NR_104109.2:n.284+16912A>C (ATP7A)
NM_001282224.2:c.552A>C (ATP7A)	NP_001269153.1:p.Ser184=