Canonical Allele Identifier: CA413604852

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78040668A>G , CM000685.2:g.78040668A>G	GRCh38
NC_000023.10:g.77296166A>G , CM000685.1:g.77296166A>G	GRCh37
NC_000023.9:g.77182822A>G	NCBI36
NG_013224.2:g.134972A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3736A>G (ATP7A) MANE Select	NP_000043.4:p.Met1246Val
ENST00000341514.11:c.3736A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Met1246Val
NM_000052.6:c.3736A>G (ATP7A)	NP_000043.4:p.Met1246Val
NM_001282224.1:c.3502A>G (ATP7A)	NP_001269153.1:p.Met1168Val
NM_001282224.2:c.3502A>G (ATP7A)	NP_001269153.1:p.Met1168Val
NR_104109.1:n.946A>G (ATP7A)
NR_104109.2:n.909A>G (ATP7A)
ENST00000341514.10:c.3736A>G (ATP7A)	ENSP00000345728.6:p.Met1246Val
ENST00000343533.10:c.3766A>G (ATP7A)	ENSP00000343026.6:p.Met1256Val
ENST00000343533.9:c.3502A>G (ATP7A)	ENSP00000343026.5:p.Met1168Val
ENST00000350425.5:c.*2909A>G (ATP7A)	ENSP00000343678.5:n.*2909A>G
ENST00000644362.1:c.-19-69199A>G (PGK1)	ENSP00000496140.1:n.-19-69199A>G
ENST00000645094.1:c.*3650A>G (ATP7A)	ENSP00000493605.1:n.*3650A>G
ENST00000682475.1:n.2153A>G (ATP7A)
ENST00000685033.1:c.1000A>G (ATP7A)	ENSP00000509269.1:p.Met334Val
ENST00000685264.1:c.3736A>G (ATP7A)	ENSP00000510136.1:p.Met1246Val
ENST00000686033.1:c.3541A>G (ATP7A)	ENSP00000510693.1:p.Met1181Val
ENST00000686133.1:c.3736A>G (ATP7A)	ENSP00000509233.1:p.Met1246Val
ENST00000686255.1:n.2767A>G (ATP7A)
ENST00000686543.1:c.3502A>G (ATP7A)	ENSP00000509477.1:p.Met1168Val
ENST00000687086.1:c.3736A>G (ATP7A)	ENSP00000509566.1:p.Met1246Val
ENST00000689514.1:n.1778A>G (ATP7A)
ENST00000689767.1:c.3829A>G (ATP7A)	ENSP00000509406.1:p.Met1277Val
ENST00000692908.1:c.3502A>G (ATP7A)	ENSP00000508627.1:p.Met1168Val