Canonical Allele Identifier: CA517073465

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289138T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033640T>C , CM000685.2:g.78033640T>C	GRCh38
NC_000023.10:g.77289138T>C , CM000685.1:g.77289138T>C	GRCh37
NC_000023.9:g.77175794T>C	NCBI36
NG_013224.2:g.127944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3360T>C (ATP7A)	ENSP00000343026.6:p.Asp1120=
ENST00000682475.1:n.1747T>C (ATP7A)
ENST00000685033.1:c.594T>C (ATP7A)	ENSP00000509269.1:p.Asp198=
ENST00000685264.1:c.3330T>C (ATP7A)	ENSP00000510136.1:p.Asp1110=
ENST00000686033.1:c.3135T>C (ATP7A)	ENSP00000510693.1:p.Asp1045=
ENST00000686133.1:c.3330T>C (ATP7A)	ENSP00000509233.1:p.Asp1110=
ENST00000686255.1:n.2361T>C (ATP7A)
ENST00000686543.1:c.3096T>C (ATP7A)	ENSP00000509477.1:p.Asp1032=
ENST00000687086.1:c.3330T>C (ATP7A)	ENSP00000509566.1:p.Asp1110=
ENST00000689514.1:n.1372T>C (ATP7A)
ENST00000689767.1:c.3423T>C (ATP7A)	ENSP00000509406.1:p.Asp1141=
ENST00000692908.1:c.3096T>C (ATP7A)	ENSP00000508627.1:p.Asp1032=
ENST00000341514.11:c.3330T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Asp1110=
ENST00000644362.1:c.-19-76227T>C (PGK1)	ENSP00000496140.1:n.-19-76227T>C
ENST00000645094.1:c.*3244T>C (ATP7A)	ENSP00000493605.1:n.*3244T>C
ENST00000341514.10:c.3330T>C (ATP7A)	ENSP00000345728.6:p.Asp1110=
ENST00000343533.9:c.3096T>C (ATP7A)	ENSP00000343026.5:p.Asp1032=
ENST00000350425.5:c.*2503T>C (ATP7A)	ENSP00000343678.5:n.*2503T>C
NM_000052.6:c.3330T>C (ATP7A)	NP_000043.4:p.Asp1110=
NM_001282224.1:c.3096T>C (ATP7A)	NP_001269153.1:p.Asp1032=
NR_104109.1:n.540T>C (ATP7A)
NM_000052.7:c.3330T>C (ATP7A) MANE Select	NP_000043.4:p.Asp1110=
NR_104109.2:n.503T>C (ATP7A)
NM_001282224.2:c.3096T>C (ATP7A)	NP_001269153.1:p.Asp1032=