Canonical Allele Identifier: CA413604108

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289222G>C (hg19) ; chrX:g.78033724G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033724G>C , CM000685.2:g.78033724G>C	GRCh38
NC_000023.10:g.77289222G>C , CM000685.1:g.77289222G>C	GRCh37
NC_000023.9:g.77175878G>C	NCBI36
NG_013224.2:g.128028G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3444G>C (ATP7A)	ENSP00000343026.6:p.Glu1148Asp
ENST00000682475.1:n.1831G>C (ATP7A)
ENST00000685033.1:c.678G>C (ATP7A)	ENSP00000509269.1:p.Glu226Asp
ENST00000685264.1:c.3414G>C (ATP7A)	ENSP00000510136.1:p.Glu1138Asp
ENST00000686033.1:c.3219G>C (ATP7A)	ENSP00000510693.1:p.Glu1073Asp
ENST00000686133.1:c.3414G>C (ATP7A)	ENSP00000509233.1:p.Glu1138Asp
ENST00000686255.1:n.2445G>C (ATP7A)
ENST00000686543.1:c.3180G>C (ATP7A)	ENSP00000509477.1:p.Glu1060Asp
ENST00000687086.1:c.3414G>C (ATP7A)	ENSP00000509566.1:p.Glu1138Asp
ENST00000689514.1:n.1456G>C (ATP7A)
ENST00000689767.1:c.3507G>C (ATP7A)	ENSP00000509406.1:p.Glu1169Asp
ENST00000692908.1:c.3180G>C (ATP7A)	ENSP00000508627.1:p.Glu1060Asp
ENST00000341514.11:c.3414G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Glu1138Asp
ENST00000644362.1:c.-19-76143G>C (PGK1)	ENSP00000496140.1:n.-19-76143G>C
ENST00000645094.1:c.*3328G>C (ATP7A)	ENSP00000493605.1:n.*3328G>C
ENST00000341514.10:c.3414G>C (ATP7A)	ENSP00000345728.6:p.Glu1138Asp
ENST00000343533.9:c.3180G>C (ATP7A)	ENSP00000343026.5:p.Glu1060Asp
ENST00000350425.5:c.*2587G>C (ATP7A)	ENSP00000343678.5:n.*2587G>C
NM_000052.6:c.3414G>C (ATP7A)	NP_000043.4:p.Glu1138Asp
NM_001282224.1:c.3180G>C (ATP7A)	NP_001269153.1:p.Glu1060Asp
NR_104109.1:n.624G>C (ATP7A)
NM_000052.7:c.3414G>C (ATP7A) MANE Select	NP_000043.4:p.Glu1138Asp
NR_104109.2:n.587G>C (ATP7A)
NM_001282224.2:c.3180G>C (ATP7A)	NP_001269153.1:p.Glu1060Asp