Canonical Allele Identifier: CA413602723

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276458T>C (hg19) ; chrX:g.78020961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78020961T>C , CM000685.2:g.78020961T>C	GRCh38
NC_000023.10:g.77276458T>C , CM000685.1:g.77276458T>C	GRCh37
NC_000023.9:g.77163114T>C	NCBI36
NG_013224.2:g.115265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2828T>C (ATP7A)	ENSP00000343026.6:p.Phe943Ser
ENST00000682475.1:n.1215T>C (ATP7A)
ENST00000685033.1:c.375+563T>C (ATP7A)	ENSP00000509269.1:n.375+563T>C
ENST00000685264.1:c.2798T>C (ATP7A)	ENSP00000510136.1:p.Phe933Ser
ENST00000686033.1:c.2798T>C (ATP7A)	ENSP00000510693.1:p.Phe933Ser
ENST00000686133.1:c.2798T>C (ATP7A)	ENSP00000509233.1:p.Phe933Ser
ENST00000686255.1:n.1829T>C (ATP7A)
ENST00000686543.1:c.2564T>C (ATP7A)	ENSP00000509477.1:p.Phe855Ser
ENST00000687086.1:c.2798T>C (ATP7A)	ENSP00000509566.1:p.Phe933Ser
ENST00000689514.1:n.840T>C (ATP7A)
ENST00000689530.1:c.2798T>C (ATP7A)	ENSP00000509707.1:p.Phe933Ser
ENST00000689767.1:c.2891T>C (ATP7A)	ENSP00000509406.1:p.Phe964Ser
ENST00000692908.1:c.2564T>C (ATP7A)	ENSP00000508627.1:p.Phe855Ser
ENST00000341514.11:c.2798T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Phe933Ser
ENST00000644362.1:c.-19-88906T>C (PGK1)	ENSP00000496140.1:n.-19-88906T>C
ENST00000645094.1:c.*2712T>C (ATP7A)	ENSP00000493605.1:n.*2712T>C
ENST00000341514.10:c.2798T>C (ATP7A)	ENSP00000345728.6:p.Phe933Ser
ENST00000343533.9:c.2564T>C (ATP7A)	ENSP00000343026.5:p.Phe855Ser
ENST00000350425.5:c.*1971T>C (ATP7A)	ENSP00000343678.5:n.*1971T>C
NM_000052.6:c.2798T>C (ATP7A)	NP_000043.4:p.Phe933Ser
NM_001282224.1:c.2564T>C (ATP7A)	NP_001269153.1:p.Phe855Ser
NR_104109.1:n.322-10439T>C (ATP7A)
NM_000052.7:c.2798T>C (ATP7A) MANE Select	NP_000043.4:p.Phe933Ser
NR_104109.2:n.285-10439T>C (ATP7A)
NM_001282224.2:c.2564T>C (ATP7A)	NP_001269153.1:p.Phe855Ser