Canonical Allele Identifier: CA277093

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 210402
• ClinVar RCV Id: RCV000193177 ; RCV002517056
• dbSNP Id: rs797045339
• MyVariant Identifiers: chrX:g.77266677T>G (hg19) ; chrX:g.78011180T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011180T>G , CM000685.2:g.78011180T>G	GRCh38
NC_000023.10:g.77266677T>G , CM000685.1:g.77266677T>G	GRCh37
NC_000023.9:g.77153333T>G	NCBI36
NG_013224.2:g.105484T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1904T>G (ATP7A)	ENSP00000343026.6:p.Leu635Ter
ENST00000682475.1:n.329T>G (ATP7A)
ENST00000685264.1:c.1874T>G (ATP7A)	ENSP00000510136.1:p.Leu625Ter
ENST00000686033.1:c.1874T>G (ATP7A)	ENSP00000510693.1:p.Leu625Ter
ENST00000686133.1:c.1874T>G (ATP7A)	ENSP00000509233.1:p.Leu625Ter
ENST00000686255.1:n.709T>G (ATP7A)
ENST00000686480.1:c.1874T>G (ATP7A)	ENSP00000508978.1:p.Leu625Ter
ENST00000686515.1:n.2014T>G (ATP7A)
ENST00000686543.1:c.1874T>G (ATP7A)	ENSP00000509477.1:p.Leu625Ter
ENST00000686688.1:c.1874T>G (ATP7A)	ENSP00000509416.1:p.Leu625Ter
ENST00000686999.1:n.2185T>G (ATP7A)
ENST00000687086.1:c.1874T>G (ATP7A)	ENSP00000509566.1:p.Leu625Ter
ENST00000687628.1:n.3887T>G (ATP7A)
ENST00000688746.1:n.2026T>G (ATP7A)
ENST00000689530.1:c.1874T>G (ATP7A)	ENSP00000509707.1:p.Leu625Ter
ENST00000689649.1:c.1874T>G (ATP7A)	ENSP00000509277.1:p.Leu625Ter
ENST00000689767.1:c.1967T>G (ATP7A)	ENSP00000509406.1:p.Leu656Ter
ENST00000689872.1:c.1870-269T>G (ATP7A)	ENSP00000509373.1:n.1870-269T>G
ENST00000692110.1:c.1790T>G (ATP7A)	ENSP00000509366.1:p.Leu597Ter
ENST00000692908.1:c.1874T>G (ATP7A)	ENSP00000508627.1:p.Leu625Ter
ENST00000693398.1:c.1874T>G (ATP7A)	ENSP00000510089.1:p.Leu625Ter
ENST00000341514.11:c.1874T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Leu625Ter
ENST00000644362.1:c.-19-98687T>G (PGK1)	ENSP00000496140.1:n.-19-98687T>G
ENST00000645094.1:c.*1788T>G (ATP7A)	ENSP00000493605.1:n.*1788T>G
ENST00000341514.10:c.1874T>G (ATP7A)	ENSP00000345728.6:p.Leu625Ter
ENST00000343533.9:c.1874T>G (ATP7A)	ENSP00000343026.5:p.Leu625Ter
ENST00000350425.5:c.*1047T>G (ATP7A)	ENSP00000343678.5:n.*1047T>G
NM_000052.6:c.1874T>G (ATP7A)	NP_000043.4:p.Leu625Ter
NM_001282224.1:c.1874T>G (ATP7A)	NP_001269153.1:p.Leu625Ter
NR_104109.1:n.322-20220T>G (ATP7A)
NM_000052.7:c.1874T>G (ATP7A) MANE Select	NP_000043.4:p.Leu625Ter
NR_104109.2:n.285-20220T>G (ATP7A)
NM_001282224.2:c.1874T>G (ATP7A)	NP_001269153.1:p.Leu625Ter