Canonical Allele Identifier: CA413602752

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77276470T>A (hg19) ; chrX:g.78020973T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78020973T>A , CM000685.2:g.78020973T>A	GRCh38
NC_000023.10:g.77276470T>A , CM000685.1:g.77276470T>A	GRCh37
NC_000023.9:g.77163126T>A	NCBI36
NG_013224.2:g.115277T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2840T>A (ATP7A)	ENSP00000343026.6:p.Leu947His
ENST00000682475.1:n.1227T>A (ATP7A)
ENST00000685033.1:c.375+575T>A (ATP7A)	ENSP00000509269.1:n.375+575T>A
ENST00000685264.1:c.2810T>A (ATP7A)	ENSP00000510136.1:p.Leu937His
ENST00000686033.1:c.2810T>A (ATP7A)	ENSP00000510693.1:p.Leu937His
ENST00000686133.1:c.2810T>A (ATP7A)	ENSP00000509233.1:p.Leu937His
ENST00000686255.1:n.1841T>A (ATP7A)
ENST00000686543.1:c.2576T>A (ATP7A)	ENSP00000509477.1:p.Leu859His
ENST00000687086.1:c.2810T>A (ATP7A)	ENSP00000509566.1:p.Leu937His
ENST00000689514.1:n.852T>A (ATP7A)
ENST00000689530.1:c.2810T>A (ATP7A)	ENSP00000509707.1:p.Leu937His
ENST00000689767.1:c.2903T>A (ATP7A)	ENSP00000509406.1:p.Leu968His
ENST00000692908.1:c.2576T>A (ATP7A)	ENSP00000508627.1:p.Leu859His
ENST00000341514.11:c.2810T>A (ATP7A) MANE Select	ENSP00000345728.6:p.Leu937His
ENST00000644362.1:c.-19-88894T>A (PGK1)	ENSP00000496140.1:n.-19-88894T>A
ENST00000645094.1:c.*2724T>A (ATP7A)	ENSP00000493605.1:n.*2724T>A
ENST00000341514.10:c.2810T>A (ATP7A)	ENSP00000345728.6:p.Leu937His
ENST00000343533.9:c.2576T>A (ATP7A)	ENSP00000343026.5:p.Leu859His
ENST00000350425.5:c.*1983T>A (ATP7A)	ENSP00000343678.5:n.*1983T>A
NM_000052.6:c.2810T>A (ATP7A)	NP_000043.4:p.Leu937His
NM_001282224.1:c.2576T>A (ATP7A)	NP_001269153.1:p.Leu859His
NR_104109.1:n.322-10427T>A (ATP7A)
NM_000052.7:c.2810T>A (ATP7A) MANE Select	NP_000043.4:p.Leu937His
NR_104109.2:n.285-10427T>A (ATP7A)
NM_001282224.2:c.2576T>A (ATP7A)	NP_001269153.1:p.Leu859His