Canonical Allele Identifier: CA10459188

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1108197
• ClinVar RCV Id: RCV001433581 ; RCV002420978 ; RCV003900487
• dbSNP Id: rs782761381
• ExAC: X:77267028 C / G
• gnomAD v2: X-77267028-C-G
• gnomAD v3: X-78011531-C-G
• gnomAD v4: X-78011531-C-G
• MyVariant Identifiers: chrX:g.77267028C>G (hg19) ; chrX:g.78011531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011531C>G , CM000685.2:g.78011531C>G	GRCh38
NC_000023.10:g.77267028C>G , CM000685.1:g.77267028C>G	GRCh37
NC_000023.9:g.77153684C>G	NCBI36
NG_013224.2:g.105835C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2059C>G (ATP7A)	ENSP00000343026.6:p.His687Asp
ENST00000682475.1:n.680C>G (ATP7A)
ENST00000685264.1:c.2029C>G (ATP7A)	ENSP00000510136.1:p.His677Asp
ENST00000686033.1:c.2029C>G (ATP7A)	ENSP00000510693.1:p.His677Asp
ENST00000686133.1:c.2029C>G (ATP7A)	ENSP00000509233.1:p.His677Asp
ENST00000686255.1:n.1060C>G (ATP7A)
ENST00000686480.1:c.2029C>G (ATP7A)	ENSP00000508978.1:p.His677Asp
ENST00000686515.1:n.2169C>G (ATP7A)
ENST00000686543.1:c.2029C>G (ATP7A)	ENSP00000509477.1:p.His677Asp
ENST00000686688.1:c.2029C>G (ATP7A)	ENSP00000509416.1:p.His677Asp
ENST00000686999.1:n.2340C>G (ATP7A)
ENST00000687086.1:c.2029C>G (ATP7A)	ENSP00000509566.1:p.His677Asp
ENST00000687628.1:n.4238C>G (ATP7A)
ENST00000688746.1:n.2181C>G (ATP7A)
ENST00000689514.1:n.71C>G (ATP7A)
ENST00000689530.1:c.2029C>G (ATP7A)	ENSP00000509707.1:p.His677Asp
ENST00000689649.1:c.2029C>G (ATP7A)	ENSP00000509277.1:p.His677Asp
ENST00000689767.1:c.2122C>G (ATP7A)	ENSP00000509406.1:p.His708Asp
ENST00000689872.1:c.1952C>G (ATP7A)	ENSP00000509373.1:p.Pro651Arg
ENST00000692110.1:c.1945C>G (ATP7A)	ENSP00000509366.1:p.His649Asp
ENST00000692908.1:c.2029C>G (ATP7A)	ENSP00000508627.1:p.His677Asp
ENST00000693398.1:c.2029C>G (ATP7A)	ENSP00000510089.1:p.His677Asp
ENST00000341514.11:c.2029C>G (ATP7A) MANE Select	ENSP00000345728.6:p.His677Asp
ENST00000644362.1:c.-19-98336C>G (PGK1)	ENSP00000496140.1:n.-19-98336C>G
ENST00000645094.1:c.*1943C>G (ATP7A)	ENSP00000493605.1:n.*1943C>G
ENST00000341514.10:c.2029C>G (ATP7A)	ENSP00000345728.6:p.His677Asp
ENST00000343533.9:c.2029C>G (ATP7A)	ENSP00000343026.5:p.His677Asp
ENST00000350425.5:c.*1202C>G (ATP7A)	ENSP00000343678.5:n.*1202C>G
NM_000052.6:c.2029C>G (ATP7A)	NP_000043.4:p.His677Asp
NM_001282224.1:c.2029C>G (ATP7A)	NP_001269153.1:p.His677Asp
NR_104109.1:n.322-19869C>G (ATP7A)
NM_000052.7:c.2029C>G (ATP7A) MANE Select	NP_000043.4:p.His677Asp
NR_104109.2:n.285-19869C>G (ATP7A)
NM_001282224.2:c.2029C>G (ATP7A)	NP_001269153.1:p.His677Asp