Canonical Allele Identifier: CA10459458

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78040707A>G , CM000685.2:g.78040707A>G	GRCh38
NC_000023.10:g.77296205A>G , CM000685.1:g.77296205A>G	GRCh37
NC_000023.9:g.77182861A>G	NCBI36
NG_013224.2:g.135011A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3775A>G (ATP7A) MANE Select	NP_000043.4:p.Lys1259Glu
ENST00000341514.11:c.3775A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Lys1259Glu
NM_000052.6:c.3775A>G (ATP7A)	NP_000043.4:p.Lys1259Glu
NM_001282224.1:c.3541A>G (ATP7A)	NP_001269153.1:p.Lys1181Glu
NM_001282224.2:c.3541A>G (ATP7A)	NP_001269153.1:p.Lys1181Glu
NR_104109.1:n.985A>G (ATP7A)
NR_104109.2:n.948A>G (ATP7A)
ENST00000341514.10:c.3775A>G (ATP7A)	ENSP00000345728.6:p.Lys1259Glu
ENST00000343533.10:c.3805A>G (ATP7A)	ENSP00000343026.6:p.Lys1269Glu
ENST00000343533.9:c.3541A>G (ATP7A)	ENSP00000343026.5:p.Lys1181Glu
ENST00000350425.5:c.*2948A>G (ATP7A)	ENSP00000343678.5:n.*2948A>G
ENST00000644362.1:c.-19-69160A>G (PGK1)	ENSP00000496140.1:n.-19-69160A>G
ENST00000645094.1:c.*3689A>G (ATP7A)	ENSP00000493605.1:n.*3689A>G
ENST00000682475.1:n.2192A>G (ATP7A)
ENST00000685033.1:c.1039A>G (ATP7A)	ENSP00000509269.1:p.Lys347Glu
ENST00000685264.1:c.3775A>G (ATP7A)	ENSP00000510136.1:p.Lys1259Glu
ENST00000686033.1:c.3580A>G (ATP7A)	ENSP00000510693.1:p.Lys1194Glu
ENST00000686133.1:c.3775A>G (ATP7A)	ENSP00000509233.1:p.Lys1259Glu
ENST00000686255.1:n.2806A>G (ATP7A)
ENST00000686543.1:c.3541A>G (ATP7A)	ENSP00000509477.1:p.Lys1181Glu
ENST00000687086.1:c.3775A>G (ATP7A)	ENSP00000509566.1:p.Lys1259Glu
ENST00000689514.1:n.1817A>G (ATP7A)
ENST00000689767.1:c.3868A>G (ATP7A)	ENSP00000509406.1:p.Lys1290Glu
ENST00000692908.1:c.3541A>G (ATP7A)	ENSP00000508627.1:p.Lys1181Glu