Canonical Allele Identifier: CA10459512

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045478A>G , CM000685.2:g.78045478A>G	GRCh38
NC_000023.10:g.77300975A>G , CM000685.1:g.77300975A>G	GRCh37
NC_000023.9:g.77187631A>G	NCBI36
NG_013224.2:g.139782A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4132A>G (ATP7A) MANE Select	NP_000043.4:p.Met1378Val
ENST00000341514.11:c.4132A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Met1378Val
NM_000052.6:c.4132A>G (ATP7A)	NP_000043.4:p.Met1378Val
NM_001282224.1:c.3898A>G (ATP7A)	NP_001269153.1:p.Met1300Val
NM_001282224.2:c.3898A>G (ATP7A)	NP_001269153.1:p.Met1300Val
NR_104109.1:n.1342A>G (ATP7A)
NR_104109.2:n.1305A>G (ATP7A)
ENST00000341514.10:c.4132A>G (ATP7A)	ENSP00000345728.6:p.Met1378Val
ENST00000343533.10:c.4162A>G (ATP7A)	ENSP00000343026.6:p.Met1388Val
ENST00000343533.9:c.3898A>G (ATP7A)	ENSP00000343026.5:p.Met1300Val
ENST00000350425.5:c.*3305A>G (ATP7A)	ENSP00000343678.5:n.*3305A>G
ENST00000644362.1:c.-19-64389A>G (PGK1)	ENSP00000496140.1:n.-19-64389A>G
ENST00000682475.1:n.2549A>G (ATP7A)
ENST00000685033.1:c.1396A>G (ATP7A)	ENSP00000509269.1:p.Met466Val
ENST00000685264.1:c.4132A>G (ATP7A)	ENSP00000510136.1:p.Met1378Val
ENST00000686033.1:c.3937A>G (ATP7A)	ENSP00000510693.1:p.Met1313Val
ENST00000686133.1:c.4132A>G (ATP7A)	ENSP00000509233.1:p.Met1378Val
ENST00000686255.1:n.3163A>G (ATP7A)
ENST00000686543.1:c.3898A>G (ATP7A)	ENSP00000509477.1:p.Met1300Val
ENST00000687086.1:c.4132A>G (ATP7A)	ENSP00000509566.1:p.Met1378Val
ENST00000689083.1:n.1427A>G (ATP7A)
ENST00000689767.1:c.4225A>G (ATP7A)	ENSP00000509406.1:p.Met1409Val
ENST00000692908.1:c.3898A>G (ATP7A)	ENSP00000508627.1:p.Met1300Val