Canonical Allele Identifier: CA413598189

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77267002T>G (hg19) ; chrX:g.78011505T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011505T>G , CM000685.2:g.78011505T>G	GRCh38
NC_000023.10:g.77267002T>G , CM000685.1:g.77267002T>G	GRCh37
NC_000023.9:g.77153658T>G	NCBI36
NG_013224.2:g.105809T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2033T>G (ATP7A)	ENSP00000343026.6:p.Met678Arg
ENST00000682475.1:n.654T>G (ATP7A)
ENST00000685264.1:c.2003T>G (ATP7A)	ENSP00000510136.1:p.Met668Arg
ENST00000686033.1:c.2003T>G (ATP7A)	ENSP00000510693.1:p.Met668Arg
ENST00000686133.1:c.2003T>G (ATP7A)	ENSP00000509233.1:p.Met668Arg
ENST00000686255.1:n.1034T>G (ATP7A)
ENST00000686480.1:c.2003T>G (ATP7A)	ENSP00000508978.1:p.Met668Arg
ENST00000686515.1:n.2143T>G (ATP7A)
ENST00000686543.1:c.2003T>G (ATP7A)	ENSP00000509477.1:p.Met668Arg
ENST00000686688.1:c.2003T>G (ATP7A)	ENSP00000509416.1:p.Met668Arg
ENST00000686999.1:n.2314T>G (ATP7A)
ENST00000687086.1:c.2003T>G (ATP7A)	ENSP00000509566.1:p.Met668Arg
ENST00000687628.1:n.4212T>G (ATP7A)
ENST00000688746.1:n.2155T>G (ATP7A)
ENST00000689514.1:n.45T>G (ATP7A)
ENST00000689530.1:c.2003T>G (ATP7A)	ENSP00000509707.1:p.Met668Arg
ENST00000689649.1:c.2003T>G (ATP7A)	ENSP00000509277.1:p.Met668Arg
ENST00000689767.1:c.2096T>G (ATP7A)	ENSP00000509406.1:p.Met699Arg
ENST00000689872.1:c.1926T>G (ATP7A)	ENSP00000509373.1:p.Asp642Glu
ENST00000692110.1:c.1919T>G (ATP7A)	ENSP00000509366.1:p.Met640Arg
ENST00000692908.1:c.2003T>G (ATP7A)	ENSP00000508627.1:p.Met668Arg
ENST00000693398.1:c.2003T>G (ATP7A)	ENSP00000510089.1:p.Met668Arg
ENST00000341514.11:c.2003T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Met668Arg
ENST00000644362.1:c.-19-98362T>G (PGK1)	ENSP00000496140.1:n.-19-98362T>G
ENST00000645094.1:c.*1917T>G (ATP7A)	ENSP00000493605.1:n.*1917T>G
ENST00000341514.10:c.2003T>G (ATP7A)	ENSP00000345728.6:p.Met668Arg
ENST00000343533.9:c.2003T>G (ATP7A)	ENSP00000343026.5:p.Met668Arg
ENST00000350425.5:c.*1176T>G (ATP7A)	ENSP00000343678.5:n.*1176T>G
NM_000052.6:c.2003T>G (ATP7A)	NP_000043.4:p.Met668Arg
NM_001282224.1:c.2003T>G (ATP7A)	NP_001269153.1:p.Met668Arg
NR_104109.1:n.322-19895T>G (ATP7A)
NM_000052.7:c.2003T>G (ATP7A) MANE Select	NP_000043.4:p.Met668Arg
NR_104109.2:n.285-19895T>G (ATP7A)
NM_001282224.2:c.2003T>G (ATP7A)	NP_001269153.1:p.Met668Arg