Canonical Allele Identifier: CA413602954

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276563A>T (hg19) ; chrX:g.78021066A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021066A>T , CM000685.2:g.78021066A>T	GRCh38
NC_000023.10:g.77276563A>T , CM000685.1:g.77276563A>T	GRCh37
NC_000023.9:g.77163219A>T	NCBI36
NG_013224.2:g.115370A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2933A>T (ATP7A)	ENSP00000343026.6:p.Glu978Val
ENST00000682475.1:n.1320A>T (ATP7A)
ENST00000685033.1:c.375+668A>T (ATP7A)	ENSP00000509269.1:n.375+668A>T
ENST00000685264.1:c.2903A>T (ATP7A)	ENSP00000510136.1:p.Glu968Val
ENST00000686033.1:c.2903A>T (ATP7A)	ENSP00000510693.1:p.Glu968Val
ENST00000686133.1:c.2903A>T (ATP7A)	ENSP00000509233.1:p.Glu968Val
ENST00000686255.1:n.1934A>T (ATP7A)
ENST00000686543.1:c.2669A>T (ATP7A)	ENSP00000509477.1:p.Glu890Val
ENST00000687086.1:c.2903A>T (ATP7A)	ENSP00000509566.1:p.Glu968Val
ENST00000689514.1:n.945A>T (ATP7A)
ENST00000689530.1:c.2903A>T (ATP7A)	ENSP00000509707.1:p.Glu968Val
ENST00000689767.1:c.2996A>T (ATP7A)	ENSP00000509406.1:p.Glu999Val
ENST00000692908.1:c.2669A>T (ATP7A)	ENSP00000508627.1:p.Glu890Val
ENST00000341514.11:c.2903A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Glu968Val
ENST00000644362.1:c.-19-88801A>T (PGK1)	ENSP00000496140.1:n.-19-88801A>T
ENST00000645094.1:c.*2817A>T (ATP7A)	ENSP00000493605.1:n.*2817A>T
ENST00000341514.10:c.2903A>T (ATP7A)	ENSP00000345728.6:p.Glu968Val
ENST00000343533.9:c.2669A>T (ATP7A)	ENSP00000343026.5:p.Glu890Val
ENST00000350425.5:c.*2076A>T (ATP7A)	ENSP00000343678.5:n.*2076A>T
NM_000052.6:c.2903A>T (ATP7A)	NP_000043.4:p.Glu968Val
NM_001282224.1:c.2669A>T (ATP7A)	NP_001269153.1:p.Glu890Val
NR_104109.1:n.322-10334A>T (ATP7A)
NM_000052.7:c.2903A>T (ATP7A) MANE Select	NP_000043.4:p.Glu968Val
NR_104109.2:n.285-10334A>T (ATP7A)
NM_001282224.2:c.2669A>T (ATP7A)	NP_001269153.1:p.Glu890Val