Canonical Allele Identifier: CA517057971

Gene: ATP7A PGK1

Linked Data

• COSMIC: COSM5455923 ; COSM5455924
• MyVariant Identifiers: chrX:g.77266678A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011181A>G , CM000685.2:g.78011181A>G	GRCh38
NC_000023.10:g.77266678A>G , CM000685.1:g.77266678A>G	GRCh37
NC_000023.9:g.77153334A>G	NCBI36
NG_013224.2:g.105485A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1905A>G (ATP7A)	ENSP00000343026.6:p.Leu635=
ENST00000682475.1:n.330A>G (ATP7A)
ENST00000685264.1:c.1875A>G (ATP7A)	ENSP00000510136.1:p.Leu625=
ENST00000686033.1:c.1875A>G (ATP7A)	ENSP00000510693.1:p.Leu625=
ENST00000686133.1:c.1875A>G (ATP7A)	ENSP00000509233.1:p.Leu625=
ENST00000686255.1:n.710A>G (ATP7A)
ENST00000686480.1:c.1875A>G (ATP7A)	ENSP00000508978.1:p.Leu625=
ENST00000686515.1:n.2015A>G (ATP7A)
ENST00000686543.1:c.1875A>G (ATP7A)	ENSP00000509477.1:p.Leu625=
ENST00000686688.1:c.1875A>G (ATP7A)	ENSP00000509416.1:p.Leu625=
ENST00000686999.1:n.2186A>G (ATP7A)
ENST00000687086.1:c.1875A>G (ATP7A)	ENSP00000509566.1:p.Leu625=
ENST00000687628.1:n.3888A>G (ATP7A)
ENST00000688746.1:n.2027A>G (ATP7A)
ENST00000689530.1:c.1875A>G (ATP7A)	ENSP00000509707.1:p.Leu625=
ENST00000689649.1:c.1875A>G (ATP7A)	ENSP00000509277.1:p.Leu625=
ENST00000689767.1:c.1968A>G (ATP7A)	ENSP00000509406.1:p.Leu656=
ENST00000689872.1:c.1870-268A>G (ATP7A)	ENSP00000509373.1:n.1870-268A>G
ENST00000692110.1:c.1791A>G (ATP7A)	ENSP00000509366.1:p.Leu597=
ENST00000692908.1:c.1875A>G (ATP7A)	ENSP00000508627.1:p.Leu625=
ENST00000693398.1:c.1875A>G (ATP7A)	ENSP00000510089.1:p.Leu625=
ENST00000341514.11:c.1875A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Leu625=
ENST00000644362.1:c.-19-98686A>G (PGK1)	ENSP00000496140.1:n.-19-98686A>G
ENST00000645094.1:c.*1789A>G (ATP7A)	ENSP00000493605.1:n.*1789A>G
ENST00000341514.10:c.1875A>G (ATP7A)	ENSP00000345728.6:p.Leu625=
ENST00000343533.9:c.1875A>G (ATP7A)	ENSP00000343026.5:p.Leu625=
ENST00000350425.5:c.*1048A>G (ATP7A)	ENSP00000343678.5:n.*1048A>G
NM_000052.6:c.1875A>G (ATP7A)	NP_000043.4:p.Leu625=
NM_001282224.1:c.1875A>G (ATP7A)	NP_001269153.1:p.Leu625=
NR_104109.1:n.322-20219A>G (ATP7A)
NM_000052.7:c.1875A>G (ATP7A) MANE Select	NP_000043.4:p.Leu625=
NR_104109.2:n.285-20219A>G (ATP7A)
NM_001282224.2:c.1875A>G (ATP7A)	NP_001269153.1:p.Leu625=