Canonical Allele Identifier: CA413604031

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289190G>C (hg19) ; chrX:g.78033692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033692G>C , CM000685.2:g.78033692G>C	GRCh38
NC_000023.10:g.77289190G>C , CM000685.1:g.77289190G>C	GRCh37
NC_000023.9:g.77175846G>C	NCBI36
NG_013224.2:g.127996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3412G>C (ATP7A)	ENSP00000343026.6:p.Gly1138Arg
ENST00000682475.1:n.1799G>C (ATP7A)
ENST00000685033.1:c.646G>C (ATP7A)	ENSP00000509269.1:p.Gly216Arg
ENST00000685264.1:c.3382G>C (ATP7A)	ENSP00000510136.1:p.Gly1128Arg
ENST00000686033.1:c.3187G>C (ATP7A)	ENSP00000510693.1:p.Gly1063Arg
ENST00000686133.1:c.3382G>C (ATP7A)	ENSP00000509233.1:p.Gly1128Arg
ENST00000686255.1:n.2413G>C (ATP7A)
ENST00000686543.1:c.3148G>C (ATP7A)	ENSP00000509477.1:p.Gly1050Arg
ENST00000687086.1:c.3382G>C (ATP7A)	ENSP00000509566.1:p.Gly1128Arg
ENST00000689514.1:n.1424G>C (ATP7A)
ENST00000689767.1:c.3475G>C (ATP7A)	ENSP00000509406.1:p.Gly1159Arg
ENST00000692908.1:c.3148G>C (ATP7A)	ENSP00000508627.1:p.Gly1050Arg
ENST00000341514.11:c.3382G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Gly1128Arg
ENST00000644362.1:c.-19-76175G>C (PGK1)	ENSP00000496140.1:n.-19-76175G>C
ENST00000645094.1:c.*3296G>C (ATP7A)	ENSP00000493605.1:n.*3296G>C
ENST00000341514.10:c.3382G>C (ATP7A)	ENSP00000345728.6:p.Gly1128Arg
ENST00000343533.9:c.3148G>C (ATP7A)	ENSP00000343026.5:p.Gly1050Arg
ENST00000350425.5:c.*2555G>C (ATP7A)	ENSP00000343678.5:n.*2555G>C
NM_000052.6:c.3382G>C (ATP7A)	NP_000043.4:p.Gly1128Arg
NM_001282224.1:c.3148G>C (ATP7A)	NP_001269153.1:p.Gly1050Arg
NR_104109.1:n.592G>C (ATP7A)
NM_000052.7:c.3382G>C (ATP7A) MANE Select	NP_000043.4:p.Gly1128Arg
NR_104109.2:n.555G>C (ATP7A)
NM_001282224.2:c.3148G>C (ATP7A)	NP_001269153.1:p.Gly1050Arg