Canonical Allele Identifier: CA413602909

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276544C>A (hg19) ; chrX:g.78021047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021047C>A , CM000685.2:g.78021047C>A	GRCh38
NC_000023.10:g.77276544C>A , CM000685.1:g.77276544C>A	GRCh37
NC_000023.9:g.77163200C>A	NCBI36
NG_013224.2:g.115351C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2914C>A (ATP7A)	ENSP00000343026.6:p.Leu972Met
ENST00000682475.1:n.1301C>A (ATP7A)
ENST00000685033.1:c.375+649C>A (ATP7A)	ENSP00000509269.1:n.375+649C>A
ENST00000685264.1:c.2884C>A (ATP7A)	ENSP00000510136.1:p.Leu962Met
ENST00000686033.1:c.2884C>A (ATP7A)	ENSP00000510693.1:p.Leu962Met
ENST00000686133.1:c.2884C>A (ATP7A)	ENSP00000509233.1:p.Leu962Met
ENST00000686255.1:n.1915C>A (ATP7A)
ENST00000686543.1:c.2650C>A (ATP7A)	ENSP00000509477.1:p.Leu884Met
ENST00000687086.1:c.2884C>A (ATP7A)	ENSP00000509566.1:p.Leu962Met
ENST00000689514.1:n.926C>A (ATP7A)
ENST00000689530.1:c.2884C>A (ATP7A)	ENSP00000509707.1:p.Leu962Met
ENST00000689767.1:c.2977C>A (ATP7A)	ENSP00000509406.1:p.Leu993Met
ENST00000692908.1:c.2650C>A (ATP7A)	ENSP00000508627.1:p.Leu884Met
ENST00000341514.11:c.2884C>A (ATP7A) MANE Select	ENSP00000345728.6:p.Leu962Met
ENST00000644362.1:c.-19-88820C>A (PGK1)	ENSP00000496140.1:n.-19-88820C>A
ENST00000645094.1:c.*2798C>A (ATP7A)	ENSP00000493605.1:n.*2798C>A
ENST00000341514.10:c.2884C>A (ATP7A)	ENSP00000345728.6:p.Leu962Met
ENST00000343533.9:c.2650C>A (ATP7A)	ENSP00000343026.5:p.Leu884Met
ENST00000350425.5:c.*2057C>A (ATP7A)	ENSP00000343678.5:n.*2057C>A
NM_000052.6:c.2884C>A (ATP7A)	NP_000043.4:p.Leu962Met
NM_001282224.1:c.2650C>A (ATP7A)	NP_001269153.1:p.Leu884Met
NR_104109.1:n.322-10353C>A (ATP7A)
NM_000052.7:c.2884C>A (ATP7A) MANE Select	NP_000043.4:p.Leu962Met
NR_104109.2:n.285-10353C>A (ATP7A)
NM_001282224.2:c.2650C>A (ATP7A)	NP_001269153.1:p.Leu884Met