Canonical Allele Identifier: CA413597280

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77264702C>G (hg19) ; chrX:g.78009205C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009205C>G , CM000685.2:g.78009205C>G	GRCh38
NC_000023.10:g.77264702C>G , CM000685.1:g.77264702C>G	GRCh37
NC_000023.9:g.77151358C>G	NCBI36
NG_013224.2:g.103509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1841C>G (ATP7A)	ENSP00000343026.6:p.Ala614Gly
ENST00000682742.2:n.1973C>G (ATP7A)
ENST00000685264.1:c.1811C>G (ATP7A)	ENSP00000510136.1:p.Ala604Gly
ENST00000685434.1:n.1845C>G (ATP7A)
ENST00000686033.1:c.1811C>G (ATP7A)	ENSP00000510693.1:p.Ala604Gly
ENST00000686133.1:c.1811C>G (ATP7A)	ENSP00000509233.1:p.Ala604Gly
ENST00000686416.1:n.2165C>G (ATP7A)
ENST00000686480.1:c.1811C>G (ATP7A)	ENSP00000508978.1:p.Ala604Gly
ENST00000686515.1:n.1951C>G (ATP7A)
ENST00000686543.1:c.1811C>G (ATP7A)	ENSP00000509477.1:p.Ala604Gly
ENST00000686688.1:c.1811C>G (ATP7A)	ENSP00000509416.1:p.Ala604Gly
ENST00000686999.1:n.2122C>G (ATP7A)
ENST00000687086.1:c.1811C>G (ATP7A)	ENSP00000509566.1:p.Ala604Gly
ENST00000687628.1:n.1912C>G (ATP7A)
ENST00000688746.1:n.1963C>G (ATP7A)
ENST00000689530.1:c.1811C>G (ATP7A)	ENSP00000509707.1:p.Ala604Gly
ENST00000689541.1:n.2120C>G (ATP7A)
ENST00000689649.1:c.1811C>G (ATP7A)	ENSP00000509277.1:p.Ala604Gly
ENST00000689767.1:c.1904C>G (ATP7A)	ENSP00000509406.1:p.Ala635Gly
ENST00000689872.1:c.1811C>G (ATP7A)	ENSP00000509373.1:p.Ala604Gly
ENST00000692110.1:c.1727C>G (ATP7A)	ENSP00000509366.1:p.Ala576Gly
ENST00000692908.1:c.1811C>G (ATP7A)	ENSP00000508627.1:p.Ala604Gly
ENST00000693387.1:c.*1740C>G (ATP7A)	ENSP00000508732.1:n.*1740C>G
ENST00000693398.1:c.1811C>G (ATP7A)	ENSP00000510089.1:p.Ala604Gly
ENST00000341514.11:c.1811C>G (ATP7A) MANE Select	ENSP00000345728.6:p.Ala604Gly
ENST00000644362.1:c.-20+98370C>G (PGK1)	ENSP00000496140.1:n.-20+98370C>G
ENST00000645094.1:c.*1725C>G (ATP7A)	ENSP00000493605.1:n.*1725C>G
ENST00000341514.10:c.1811C>G (ATP7A)	ENSP00000345728.6:p.Ala604Gly
ENST00000343533.9:c.1811C>G (ATP7A)	ENSP00000343026.5:p.Ala604Gly
ENST00000350425.5:c.*984C>G (ATP7A)	ENSP00000343678.5:n.*984C>G
NM_000052.6:c.1811C>G (ATP7A)	NP_000043.4:p.Ala604Gly
NM_001282224.1:c.1811C>G (ATP7A)	NP_001269153.1:p.Ala604Gly
NR_104109.1:n.322-22195C>G (ATP7A)
NM_000052.7:c.1811C>G (ATP7A) MANE Select	NP_000043.4:p.Ala604Gly
NR_104109.2:n.285-22195C>G (ATP7A)
NM_001282224.2:c.1811C>G (ATP7A)	NP_001269153.1:p.Ala604Gly