Canonical Allele Identifier: CA517073342

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289117A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033619A>G , CM000685.2:g.78033619A>G	GRCh38
NC_000023.10:g.77289117A>G , CM000685.1:g.77289117A>G	GRCh37
NC_000023.9:g.77175773A>G	NCBI36
NG_013224.2:g.127923A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3339A>G (ATP7A)	ENSP00000343026.6:p.Glu1113=
ENST00000682475.1:n.1726A>G (ATP7A)
ENST00000685033.1:c.573A>G (ATP7A)	ENSP00000509269.1:p.Glu191=
ENST00000685264.1:c.3309A>G (ATP7A)	ENSP00000510136.1:p.Glu1103=
ENST00000686033.1:c.3114A>G (ATP7A)	ENSP00000510693.1:p.Glu1038=
ENST00000686133.1:c.3309A>G (ATP7A)	ENSP00000509233.1:p.Glu1103=
ENST00000686255.1:n.2340A>G (ATP7A)
ENST00000686543.1:c.3075A>G (ATP7A)	ENSP00000509477.1:p.Glu1025=
ENST00000687086.1:c.3309A>G (ATP7A)	ENSP00000509566.1:p.Glu1103=
ENST00000689514.1:n.1351A>G (ATP7A)
ENST00000689767.1:c.3402A>G (ATP7A)	ENSP00000509406.1:p.Glu1134=
ENST00000692908.1:c.3075A>G (ATP7A)	ENSP00000508627.1:p.Glu1025=
ENST00000341514.11:c.3309A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Glu1103=
ENST00000644362.1:c.-19-76248A>G (PGK1)	ENSP00000496140.1:n.-19-76248A>G
ENST00000645094.1:c.*3223A>G (ATP7A)	ENSP00000493605.1:n.*3223A>G
ENST00000341514.10:c.3309A>G (ATP7A)	ENSP00000345728.6:p.Glu1103=
ENST00000343533.9:c.3075A>G (ATP7A)	ENSP00000343026.5:p.Glu1025=
ENST00000350425.5:c.*2482A>G (ATP7A)	ENSP00000343678.5:n.*2482A>G
NM_000052.6:c.3309A>G (ATP7A)	NP_000043.4:p.Glu1103=
NM_001282224.1:c.3075A>G (ATP7A)	NP_001269153.1:p.Glu1025=
NR_104109.1:n.519A>G (ATP7A)
NM_000052.7:c.3309A>G (ATP7A) MANE Select	NP_000043.4:p.Glu1103=
NR_104109.2:n.482A>G (ATP7A)
NM_001282224.2:c.3075A>G (ATP7A)	NP_001269153.1:p.Glu1025=