Canonical Allele Identifier: CA517056192

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1101579
• ClinVar RCV Id: RCV001424561
• dbSNP Id: rs2149087866
• MyVariant Identifiers: chrX:g.77254099A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77998602A>C , CM000685.2:g.77998602A>C	GRCh38
NC_000023.10:g.77254099A>C , CM000685.1:g.77254099A>C	GRCh37
NC_000023.9:g.77140755A>C	NCBI36
NG_013224.2:g.92906A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1491A>C (ATP7A)	ENSP00000343026.6:p.Ser497=
ENST00000682742.2:n.1623A>C (ATP7A)
ENST00000685264.1:c.1461A>C (ATP7A)	ENSP00000510136.1:p.Ser487=
ENST00000685434.1:n.1495A>C (ATP7A)
ENST00000686033.1:c.1461A>C (ATP7A)	ENSP00000510693.1:p.Ser487=
ENST00000686133.1:c.1461A>C (ATP7A)	ENSP00000509233.1:p.Ser487=
ENST00000686416.1:n.1815A>C (ATP7A)
ENST00000686480.1:c.1461A>C (ATP7A)	ENSP00000508978.1:p.Ser487=
ENST00000686515.1:n.1601A>C (ATP7A)
ENST00000686543.1:c.1461A>C (ATP7A)	ENSP00000509477.1:p.Ser487=
ENST00000686688.1:c.1461A>C (ATP7A)	ENSP00000509416.1:p.Ser487=
ENST00000686999.1:n.1772A>C (ATP7A)
ENST00000687086.1:c.1461A>C (ATP7A)	ENSP00000509566.1:p.Ser487=
ENST00000687416.1:c.1461A>C (ATP7A)	ENSP00000510310.1:p.Ser487=
ENST00000687628.1:n.1562A>C (ATP7A)
ENST00000688249.1:c.1461A>C (ATP7A)	ENSP00000510644.1:p.Ser487=
ENST00000688338.1:c.1461A>C (ATP7A)	ENSP00000508672.1:p.Ser487=
ENST00000688746.1:n.1613A>C (ATP7A)
ENST00000689530.1:c.1461A>C (ATP7A)	ENSP00000509707.1:p.Ser487=
ENST00000689541.1:n.1770A>C (ATP7A)
ENST00000689649.1:c.1461A>C (ATP7A)	ENSP00000509277.1:p.Ser487=
ENST00000689767.1:c.1461A>C (ATP7A)	ENSP00000509406.1:p.Ser487=
ENST00000689872.1:c.1461A>C (ATP7A)	ENSP00000509373.1:p.Ser487=
ENST00000691456.1:n.1752A>C (ATP7A)
ENST00000692110.1:c.1377A>C (ATP7A)	ENSP00000509366.1:p.Ser459=
ENST00000692908.1:c.1461A>C (ATP7A)	ENSP00000508627.1:p.Ser487=
ENST00000693051.1:c.1461A>C (ATP7A)	ENSP00000510332.1:p.Ser487=
ENST00000693387.1:c.*1390A>C (ATP7A)	ENSP00000508732.1:n.*1390A>C
ENST00000693398.1:c.1461A>C (ATP7A)	ENSP00000510089.1:p.Ser487=
ENST00000341514.11:c.1461A>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ser487=
ENST00000644362.1:c.-20+87767A>C (PGK1)	ENSP00000496140.1:n.-20+87767A>C
ENST00000645094.1:c.*1375A>C (ATP7A)	ENSP00000493605.1:n.*1375A>C
ENST00000341514.10:c.1461A>C (ATP7A)	ENSP00000345728.6:p.Ser487=
ENST00000343533.9:c.1461A>C (ATP7A)	ENSP00000343026.5:p.Ser487=
ENST00000350425.5:c.*634A>C (ATP7A)	ENSP00000343678.5:n.*634A>C
NM_000052.6:c.1461A>C (ATP7A)	NP_000043.4:p.Ser487=
NM_001282224.1:c.1461A>C (ATP7A)	NP_001269153.1:p.Ser487=
NR_104109.1:n.321+26841A>C (ATP7A)
NM_000052.7:c.1461A>C (ATP7A) MANE Select	NP_000043.4:p.Ser487=
NR_104109.2:n.284+26841A>C (ATP7A)
NM_001282224.2:c.1461A>C (ATP7A)	NP_001269153.1:p.Ser487=