Canonical Allele Identifier: CA413604272

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033798T>A , CM000685.2:g.78033798T>A	GRCh38
NC_000023.10:g.77289296T>A , CM000685.1:g.77289296T>A	GRCh37
NC_000023.9:g.77175952T>A	NCBI36
NG_013224.2:g.128102T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3488T>A (ATP7A) MANE Select	NP_000043.4:p.Met1163Lys
ENST00000341514.11:c.3488T>A (ATP7A) MANE Select	ENSP00000345728.6:p.Met1163Lys
NM_000052.6:c.3488T>A (ATP7A)	NP_000043.4:p.Met1163Lys
NM_001282224.1:c.3254T>A (ATP7A)	NP_001269153.1:p.Met1085Lys
NM_001282224.2:c.3254T>A (ATP7A)	NP_001269153.1:p.Met1085Lys
NR_104109.1:n.698T>A (ATP7A)
NR_104109.2:n.661T>A (ATP7A)
ENST00000341514.10:c.3488T>A (ATP7A)	ENSP00000345728.6:p.Met1163Lys
ENST00000343533.10:c.3518T>A (ATP7A)	ENSP00000343026.6:p.Met1173Lys
ENST00000343533.9:c.3254T>A (ATP7A)	ENSP00000343026.5:p.Met1085Lys
ENST00000350425.5:c.*2661T>A (ATP7A)	ENSP00000343678.5:n.*2661T>A
ENST00000644362.1:c.-19-76069T>A (PGK1)	ENSP00000496140.1:n.-19-76069T>A
ENST00000645094.1:c.*3402T>A (ATP7A)	ENSP00000493605.1:n.*3402T>A
ENST00000682475.1:n.1905T>A (ATP7A)
ENST00000685033.1:c.752T>A (ATP7A)	ENSP00000509269.1:p.Met251Lys
ENST00000685264.1:c.3488T>A (ATP7A)	ENSP00000510136.1:p.Met1163Lys
ENST00000686033.1:c.3293T>A (ATP7A)	ENSP00000510693.1:p.Met1098Lys
ENST00000686133.1:c.3488T>A (ATP7A)	ENSP00000509233.1:p.Met1163Lys
ENST00000686255.1:n.2519T>A (ATP7A)
ENST00000686543.1:c.3254T>A (ATP7A)	ENSP00000509477.1:p.Met1085Lys
ENST00000687086.1:c.3488T>A (ATP7A)	ENSP00000509566.1:p.Met1163Lys
ENST00000689514.1:n.1530T>A (ATP7A)
ENST00000689767.1:c.3581T>A (ATP7A)	ENSP00000509406.1:p.Met1194Lys
ENST00000692908.1:c.3254T>A (ATP7A)	ENSP00000508627.1:p.Met1085Lys