Canonical Allele Identifier: CA277137

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 210438
• ClinVar RCV Id: RCV000193405 ; RCV003231369 ; RCV002517917
• dbSNP Id: rs72554650
• MyVariant Identifiers: chrX:g.77284786C>T (hg19) ; chrX:g.78029289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78029289C>T , CM000685.2:g.78029289C>T	GRCh38
NC_000023.10:g.77284786C>T , CM000685.1:g.77284786C>T	GRCh37
NC_000023.9:g.77171442C>T	NCBI36
NG_013224.2:g.123593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2986C>T (ATP7A)	ENSP00000343026.6:p.Arg996Ter
ENST00000682475.1:n.1373C>T (ATP7A)
ENST00000685033.1:c.376-2111C>T (ATP7A)	ENSP00000509269.1:n.376-2111C>T
ENST00000685264.1:c.2956C>T (ATP7A)	ENSP00000510136.1:p.Arg986Ter
ENST00000686033.1:c.2917-2111C>T (ATP7A)	ENSP00000510693.1:n.2917-2111C>T
ENST00000686133.1:c.2956C>T (ATP7A)	ENSP00000509233.1:p.Arg986Ter
ENST00000686255.1:n.1987C>T (ATP7A)
ENST00000686543.1:c.2722C>T (ATP7A)	ENSP00000509477.1:p.Arg908Ter
ENST00000687086.1:c.2956C>T (ATP7A)	ENSP00000509566.1:p.Arg986Ter
ENST00000689514.1:n.998C>T (ATP7A)
ENST00000689767.1:c.3049C>T (ATP7A)	ENSP00000509406.1:p.Arg1017Ter
ENST00000692908.1:c.2722C>T (ATP7A)	ENSP00000508627.1:p.Arg908Ter
ENST00000341514.11:c.2956C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Arg986Ter
ENST00000644362.1:c.-19-80578C>T (PGK1)	ENSP00000496140.1:n.-19-80578C>T
ENST00000645094.1:c.*2870C>T (ATP7A)	ENSP00000493605.1:n.*2870C>T
ENST00000341514.10:c.2956C>T (ATP7A)	ENSP00000345728.6:p.Arg986Ter
ENST00000343533.9:c.2722C>T (ATP7A)	ENSP00000343026.5:p.Arg908Ter
ENST00000350425.5:c.*2129C>T (ATP7A)	ENSP00000343678.5:n.*2129C>T
NM_000052.6:c.2956C>T (ATP7A)	NP_000043.4:p.Arg986Ter
NM_001282224.1:c.2722C>T (ATP7A)	NP_001269153.1:p.Arg908Ter
NR_104109.1:n.322-2111C>T (ATP7A)
NM_000052.7:c.2956C>T (ATP7A) MANE Select	NP_000043.4:p.Arg986Ter
NR_104109.2:n.285-2111C>T (ATP7A)
NM_001282224.2:c.2722C>T (ATP7A)	NP_001269153.1:p.Arg908Ter