Canonical Allele Identifier: CA413601081

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78015831A>G , CM000685.2:g.78015831A>G	GRCh38
NC_000023.10:g.77271328A>G , CM000685.1:g.77271328A>G	GRCh37
NC_000023.9:g.77157984A>G	NCBI36
NG_013224.2:g.110135A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.2576A>G (ATP7A) MANE Select	NP_000043.4:p.Asp859Gly
ENST00000341514.11:c.2576A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Asp859Gly
NM_000052.6:c.2576A>G (ATP7A)	NP_000043.4:p.Asp859Gly
NM_001282224.1:c.2342A>G (ATP7A)	NP_001269153.1:p.Asp781Gly
NM_001282224.2:c.2342A>G (ATP7A)	NP_001269153.1:p.Asp781Gly
NR_104109.1:n.322-15569A>G (ATP7A)
NR_104109.2:n.285-15569A>G (ATP7A)
ENST00000341514.10:c.2576A>G (ATP7A)	ENSP00000345728.6:p.Asp859Gly
ENST00000343533.10:c.2606A>G (ATP7A)	ENSP00000343026.6:p.Asp869Gly
ENST00000343533.9:c.2342A>G (ATP7A)	ENSP00000343026.5:p.Asp781Gly
ENST00000350425.5:c.*1749A>G (ATP7A)	ENSP00000343678.5:n.*1749A>G
ENST00000644362.1:c.-19-94036A>G (PGK1)	ENSP00000496140.1:n.-19-94036A>G
ENST00000645094.1:c.*2490A>G (ATP7A)	ENSP00000493605.1:n.*2490A>G
ENST00000682475.1:n.993A>G (ATP7A)
ENST00000685033.1:c.170A>G (ATP7A)	ENSP00000509269.1:p.Asp57Gly
ENST00000685264.1:c.2576A>G (ATP7A)	ENSP00000510136.1:p.Asp859Gly
ENST00000686033.1:c.2576A>G (ATP7A)	ENSP00000510693.1:p.Asp859Gly
ENST00000686133.1:c.2576A>G (ATP7A)	ENSP00000509233.1:p.Asp859Gly
ENST00000686255.1:n.1607A>G (ATP7A)
ENST00000686543.1:c.2342A>G (ATP7A)	ENSP00000509477.1:p.Asp781Gly
ENST00000686688.1:c.2576A>G (ATP7A)	ENSP00000509416.1:p.Asp859Gly
ENST00000687086.1:c.2576A>G (ATP7A)	ENSP00000509566.1:p.Asp859Gly
ENST00000689514.1:n.618A>G (ATP7A)
ENST00000689530.1:c.2576A>G (ATP7A)	ENSP00000509707.1:p.Asp859Gly
ENST00000689767.1:c.2669A>G (ATP7A)	ENSP00000509406.1:p.Asp890Gly
ENST00000692908.1:c.2342A>G (ATP7A)	ENSP00000508627.1:p.Asp781Gly
ENST00000693398.1:c.2576A>G (ATP7A)	ENSP00000510089.1:p.Asp859Gly