Canonical Allele Identifier: CA10459050

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77998589A>G , CM000685.2:g.77998589A>G	GRCh38
NC_000023.10:g.77254086A>G , CM000685.1:g.77254086A>G	GRCh37
NC_000023.9:g.77140742A>G	NCBI36
NG_013224.2:g.92893A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.1448A>G (ATP7A) MANE Select	NP_000043.4:p.Glu483Gly
ENST00000341514.11:c.1448A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Glu483Gly
NM_000052.6:c.1448A>G (ATP7A)	NP_000043.4:p.Glu483Gly
NM_001282224.1:c.1448A>G (ATP7A)	NP_001269153.1:p.Glu483Gly
NM_001282224.2:c.1448A>G (ATP7A)	NP_001269153.1:p.Glu483Gly
NR_104109.1:n.321+26828A>G (ATP7A)
NR_104109.2:n.284+26828A>G (ATP7A)
ENST00000341514.10:c.1448A>G (ATP7A)	ENSP00000345728.6:p.Glu483Gly
ENST00000343533.10:c.1478A>G (ATP7A)	ENSP00000343026.6:p.Glu493Gly
ENST00000343533.9:c.1448A>G (ATP7A)	ENSP00000343026.5:p.Glu483Gly
ENST00000350425.5:c.*621A>G (ATP7A)	ENSP00000343678.5:n.*621A>G
ENST00000644362.1:c.-20+87754A>G (PGK1)	ENSP00000496140.1:n.-20+87754A>G
ENST00000645094.1:c.*1362A>G (ATP7A)	ENSP00000493605.1:n.*1362A>G
ENST00000682742.2:n.1610A>G (ATP7A)
ENST00000685264.1:c.1448A>G (ATP7A)	ENSP00000510136.1:p.Glu483Gly
ENST00000685434.1:n.1482A>G (ATP7A)
ENST00000686033.1:c.1448A>G (ATP7A)	ENSP00000510693.1:p.Glu483Gly
ENST00000686133.1:c.1448A>G (ATP7A)	ENSP00000509233.1:p.Glu483Gly
ENST00000686416.1:n.1802A>G (ATP7A)
ENST00000686480.1:c.1448A>G (ATP7A)	ENSP00000508978.1:p.Glu483Gly
ENST00000686515.1:n.1588A>G (ATP7A)
ENST00000686543.1:c.1448A>G (ATP7A)	ENSP00000509477.1:p.Glu483Gly
ENST00000686688.1:c.1448A>G (ATP7A)	ENSP00000509416.1:p.Glu483Gly
ENST00000686999.1:n.1759A>G (ATP7A)
ENST00000687086.1:c.1448A>G (ATP7A)	ENSP00000509566.1:p.Glu483Gly
ENST00000687416.1:c.1448A>G (ATP7A)	ENSP00000510310.1:p.Glu483Gly
ENST00000687628.1:n.1549A>G (ATP7A)
ENST00000688249.1:c.1448A>G (ATP7A)	ENSP00000510644.1:p.Glu483Gly
ENST00000688338.1:c.1448A>G (ATP7A)	ENSP00000508672.1:p.Glu483Gly
ENST00000688746.1:n.1600A>G (ATP7A)
ENST00000689530.1:c.1448A>G (ATP7A)	ENSP00000509707.1:p.Glu483Gly
ENST00000689541.1:n.1757A>G (ATP7A)
ENST00000689649.1:c.1448A>G (ATP7A)	ENSP00000509277.1:p.Glu483Gly
ENST00000689767.1:c.1448A>G (ATP7A)	ENSP00000509406.1:p.Glu483Gly
ENST00000689872.1:c.1448A>G (ATP7A)	ENSP00000509373.1:p.Glu483Gly
ENST00000691456.1:n.1739A>G (ATP7A)
ENST00000692110.1:c.1364A>G (ATP7A)	ENSP00000509366.1:p.Glu455Gly
ENST00000692908.1:c.1448A>G (ATP7A)	ENSP00000508627.1:p.Glu483Gly
ENST00000693051.1:c.1448A>G (ATP7A)	ENSP00000510332.1:p.Glu483Gly
ENST00000693387.1:c.*1377A>G (ATP7A)	ENSP00000508732.1:n.*1377A>G
ENST00000693398.1:c.1448A>G (ATP7A)	ENSP00000510089.1:p.Glu483Gly