Canonical Allele Identifier: CA10459024

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77989931G>A , CM000685.2:g.77989931G>A	GRCh38
NC_000023.10:g.77245427G>A , CM000685.1:g.77245427G>A	GRCh37
NC_000023.9:g.77132083G>A	NCBI36
NG_013224.2:g.84235G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.1309G>A (ATP7A) MANE Select	NP_000043.4:p.Asp437Asn
ENST00000341514.11:c.1309G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Asp437Asn
NM_000052.6:c.1309G>A (ATP7A)	NP_000043.4:p.Asp437Asn
NM_001282224.1:c.1309G>A (ATP7A)	NP_001269153.1:p.Asp437Asn
NM_001282224.2:c.1309G>A (ATP7A)	NP_001269153.1:p.Asp437Asn
NR_104109.1:n.321+18170G>A (ATP7A)
NR_104109.2:n.284+18170G>A (ATP7A)
ENST00000341514.10:c.1309G>A (ATP7A)	ENSP00000345728.6:p.Asp437Asn
ENST00000343533.10:c.1339G>A (ATP7A)	ENSP00000343026.6:p.Asp447Asn
ENST00000343533.9:c.1309G>A (ATP7A)	ENSP00000343026.5:p.Asp437Asn
ENST00000350425.5:c.*482G>A (ATP7A)	ENSP00000343678.5:n.*482G>A
ENST00000644362.1:c.-20+79096G>A (PGK1)	ENSP00000496140.1:n.-20+79096G>A
ENST00000645094.1:c.*1223G>A (ATP7A)	ENSP00000493605.1:n.*1223G>A
ENST00000682742.2:n.1471G>A (ATP7A)
ENST00000685208.1:n.1972G>A (ATP7A)
ENST00000685264.1:c.1309G>A (ATP7A)	ENSP00000510136.1:p.Asp437Asn
ENST00000685434.1:n.1427G>A (ATP7A)
ENST00000685885.1:c.1345G>A (ATP7A)	ENSP00000510005.1:p.Asp449Asn
ENST00000686033.1:c.1309G>A (ATP7A)	ENSP00000510693.1:p.Asp437Asn
ENST00000686133.1:c.1309G>A (ATP7A)	ENSP00000509233.1:p.Asp437Asn
ENST00000686416.1:n.1663G>A (ATP7A)
ENST00000686480.1:c.1309G>A (ATP7A)	ENSP00000508978.1:p.Asp437Asn
ENST00000686515.1:n.1449G>A (ATP7A)
ENST00000686543.1:c.1309G>A (ATP7A)	ENSP00000509477.1:p.Asp437Asn
ENST00000686688.1:c.1309G>A (ATP7A)	ENSP00000509416.1:p.Asp437Asn
ENST00000686999.1:n.1620G>A (ATP7A)
ENST00000687086.1:c.1309G>A (ATP7A)	ENSP00000509566.1:p.Asp437Asn
ENST00000687416.1:c.1309G>A (ATP7A)	ENSP00000510310.1:p.Asp437Asn
ENST00000687599.1:c.1309G>A (ATP7A)	ENSP00000508745.1:p.Asp437Asn
ENST00000687628.1:n.1410G>A (ATP7A)
ENST00000687984.1:c.1309G>A (ATP7A)	ENSP00000510772.1:p.Asp437Asn
ENST00000688249.1:c.1309G>A (ATP7A)	ENSP00000510644.1:p.Asp437Asn
ENST00000688338.1:c.1309G>A (ATP7A)	ENSP00000508672.1:p.Asp437Asn
ENST00000688746.1:n.1461G>A (ATP7A)
ENST00000688889.1:c.*1223G>A (ATP7A)	ENSP00000508610.1:n.*1223G>A
ENST00000689530.1:c.1309G>A (ATP7A)	ENSP00000509707.1:p.Asp437Asn
ENST00000689541.1:n.1618G>A (ATP7A)
ENST00000689649.1:c.1309G>A (ATP7A)	ENSP00000509277.1:p.Asp437Asn
ENST00000689767.1:c.1309G>A (ATP7A)	ENSP00000509406.1:p.Asp437Asn
ENST00000689872.1:c.1309G>A (ATP7A)	ENSP00000509373.1:p.Asp437Asn
ENST00000689891.1:c.1309G>A (ATP7A)	ENSP00000508974.1:p.Asp437Asn
ENST00000691152.1:c.1309G>A (ATP7A)	ENSP00000508843.1:p.Asp437Asn
ENST00000691456.1:n.1600G>A (ATP7A)
ENST00000692110.1:c.1309G>A (ATP7A)	ENSP00000509366.1:p.Asp437Asn
ENST00000692908.1:c.1309G>A (ATP7A)	ENSP00000508627.1:p.Asp437Asn
ENST00000693051.1:c.1309G>A (ATP7A)	ENSP00000510332.1:p.Asp437Asn
ENST00000693387.1:c.*1238G>A (ATP7A)	ENSP00000508732.1:n.*1238G>A
ENST00000693398.1:c.1309G>A (ATP7A)	ENSP00000510089.1:p.Asp437Asn