Canonical Allele Identifier: CA413604304

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289310C>G (hg19) ; chrX:g.78033812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033812C>G , CM000685.2:g.78033812C>G	GRCh38
NC_000023.10:g.77289310C>G , CM000685.1:g.77289310C>G	GRCh37
NC_000023.9:g.77175966C>G	NCBI36
NG_013224.2:g.128116C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3532C>G (ATP7A)	ENSP00000343026.6:p.Gln1178Glu
ENST00000682475.1:n.1919C>G (ATP7A)
ENST00000685033.1:c.766C>G (ATP7A)	ENSP00000509269.1:p.Gln256Glu
ENST00000685264.1:c.3502C>G (ATP7A)	ENSP00000510136.1:p.Gln1168Glu
ENST00000686033.1:c.3307C>G (ATP7A)	ENSP00000510693.1:p.Gln1103Glu
ENST00000686133.1:c.3502C>G (ATP7A)	ENSP00000509233.1:p.Gln1168Glu
ENST00000686255.1:n.2533C>G (ATP7A)
ENST00000686543.1:c.3268C>G (ATP7A)	ENSP00000509477.1:p.Gln1090Glu
ENST00000687086.1:c.3502C>G (ATP7A)	ENSP00000509566.1:p.Gln1168Glu
ENST00000689514.1:n.1544C>G (ATP7A)
ENST00000689767.1:c.3595C>G (ATP7A)	ENSP00000509406.1:p.Gln1199Glu
ENST00000692908.1:c.3268C>G (ATP7A)	ENSP00000508627.1:p.Gln1090Glu
ENST00000341514.11:c.3502C>G (ATP7A) MANE Select	ENSP00000345728.6:p.Gln1168Glu
ENST00000644362.1:c.-19-76055C>G (PGK1)	ENSP00000496140.1:n.-19-76055C>G
ENST00000645094.1:c.*3416C>G (ATP7A)	ENSP00000493605.1:n.*3416C>G
ENST00000341514.10:c.3502C>G (ATP7A)	ENSP00000345728.6:p.Gln1168Glu
ENST00000343533.9:c.3268C>G (ATP7A)	ENSP00000343026.5:p.Gln1090Glu
ENST00000350425.5:c.*2675C>G (ATP7A)	ENSP00000343678.5:n.*2675C>G
NM_000052.6:c.3502C>G (ATP7A)	NP_000043.4:p.Gln1168Glu
NM_001282224.1:c.3268C>G (ATP7A)	NP_001269153.1:p.Gln1090Glu
NR_104109.1:n.712C>G (ATP7A)
NM_000052.7:c.3502C>G (ATP7A) MANE Select	NP_000043.4:p.Gln1168Glu
NR_104109.2:n.675C>G (ATP7A)
NM_001282224.2:c.3268C>G (ATP7A)	NP_001269153.1:p.Gln1090Glu