Canonical Allele Identifier: CA413604079

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289211T>G (hg19) ; chrX:g.78033713T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033713T>G , CM000685.2:g.78033713T>G	GRCh38
NC_000023.10:g.77289211T>G , CM000685.1:g.77289211T>G	GRCh37
NC_000023.9:g.77175867T>G	NCBI36
NG_013224.2:g.128017T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3433T>G (ATP7A)	ENSP00000343026.6:p.Trp1145Gly
ENST00000682475.1:n.1820T>G (ATP7A)
ENST00000685033.1:c.667T>G (ATP7A)	ENSP00000509269.1:p.Trp223Gly
ENST00000685264.1:c.3403T>G (ATP7A)	ENSP00000510136.1:p.Trp1135Gly
ENST00000686033.1:c.3208T>G (ATP7A)	ENSP00000510693.1:p.Trp1070Gly
ENST00000686133.1:c.3403T>G (ATP7A)	ENSP00000509233.1:p.Trp1135Gly
ENST00000686255.1:n.2434T>G (ATP7A)
ENST00000686543.1:c.3169T>G (ATP7A)	ENSP00000509477.1:p.Trp1057Gly
ENST00000687086.1:c.3403T>G (ATP7A)	ENSP00000509566.1:p.Trp1135Gly
ENST00000689514.1:n.1445T>G (ATP7A)
ENST00000689767.1:c.3496T>G (ATP7A)	ENSP00000509406.1:p.Trp1166Gly
ENST00000692908.1:c.3169T>G (ATP7A)	ENSP00000508627.1:p.Trp1057Gly
ENST00000341514.11:c.3403T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Trp1135Gly
ENST00000644362.1:c.-19-76154T>G (PGK1)	ENSP00000496140.1:n.-19-76154T>G
ENST00000645094.1:c.*3317T>G (ATP7A)	ENSP00000493605.1:n.*3317T>G
ENST00000341514.10:c.3403T>G (ATP7A)	ENSP00000345728.6:p.Trp1135Gly
ENST00000343533.9:c.3169T>G (ATP7A)	ENSP00000343026.5:p.Trp1057Gly
ENST00000350425.5:c.*2576T>G (ATP7A)	ENSP00000343678.5:n.*2576T>G
NM_000052.6:c.3403T>G (ATP7A)	NP_000043.4:p.Trp1135Gly
NM_001282224.1:c.3169T>G (ATP7A)	NP_001269153.1:p.Trp1057Gly
NR_104109.1:n.613T>G (ATP7A)
NM_000052.7:c.3403T>G (ATP7A) MANE Select	NP_000043.4:p.Trp1135Gly
NR_104109.2:n.576T>G (ATP7A)
NM_001282224.2:c.3169T>G (ATP7A)	NP_001269153.1:p.Trp1057Gly