Canonical Allele Identifier: CA413604197

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1310971407
• gnomAD v3: X-78033763-T-A
• gnomAD v4: X-78033763-T-A
• MyVariant Identifiers: chrX:g.77289261T>A (hg19) ; chrX:g.78033763T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033763T>A , CM000685.2:g.78033763T>A	GRCh38
NC_000023.10:g.77289261T>A , CM000685.1:g.77289261T>A	GRCh37
NC_000023.9:g.77175917T>A	NCBI36
NG_013224.2:g.128067T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3483T>A (ATP7A)	ENSP00000343026.6:p.Asp1161Glu
ENST00000682475.1:n.1870T>A (ATP7A)
ENST00000685033.1:c.717T>A (ATP7A)	ENSP00000509269.1:p.Asp239Glu
ENST00000685264.1:c.3453T>A (ATP7A)	ENSP00000510136.1:p.Asp1151Glu
ENST00000686033.1:c.3258T>A (ATP7A)	ENSP00000510693.1:p.Asp1086Glu
ENST00000686133.1:c.3453T>A (ATP7A)	ENSP00000509233.1:p.Asp1151Glu
ENST00000686255.1:n.2484T>A (ATP7A)
ENST00000686543.1:c.3219T>A (ATP7A)	ENSP00000509477.1:p.Asp1073Glu
ENST00000687086.1:c.3453T>A (ATP7A)	ENSP00000509566.1:p.Asp1151Glu
ENST00000689514.1:n.1495T>A (ATP7A)
ENST00000689767.1:c.3546T>A (ATP7A)	ENSP00000509406.1:p.Asp1182Glu
ENST00000692908.1:c.3219T>A (ATP7A)	ENSP00000508627.1:p.Asp1073Glu
ENST00000341514.11:c.3453T>A (ATP7A) MANE Select	ENSP00000345728.6:p.Asp1151Glu
ENST00000644362.1:c.-19-76104T>A (PGK1)	ENSP00000496140.1:n.-19-76104T>A
ENST00000645094.1:c.*3367T>A (ATP7A)	ENSP00000493605.1:n.*3367T>A
ENST00000341514.10:c.3453T>A (ATP7A)	ENSP00000345728.6:p.Asp1151Glu
ENST00000343533.9:c.3219T>A (ATP7A)	ENSP00000343026.5:p.Asp1073Glu
ENST00000350425.5:c.*2626T>A (ATP7A)	ENSP00000343678.5:n.*2626T>A
NM_000052.6:c.3453T>A (ATP7A)	NP_000043.4:p.Asp1151Glu
NM_001282224.1:c.3219T>A (ATP7A)	NP_001269153.1:p.Asp1073Glu
NR_104109.1:n.663T>A (ATP7A)
NM_000052.7:c.3453T>A (ATP7A) MANE Select	NP_000043.4:p.Asp1151Glu
NR_104109.2:n.626T>A (ATP7A)
NM_001282224.2:c.3219T>A (ATP7A)	NP_001269153.1:p.Asp1073Glu