Canonical Allele Identifier: CA413604319

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289316T>G (hg19) ; chrX:g.78033818T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033818T>G , CM000685.2:g.78033818T>G	GRCh38
NC_000023.10:g.77289316T>G , CM000685.1:g.77289316T>G	GRCh37
NC_000023.9:g.77175972T>G	NCBI36
NG_013224.2:g.128122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3538T>G (ATP7A)	ENSP00000343026.6:p.Ser1180Ala
ENST00000682475.1:n.1925T>G (ATP7A)
ENST00000685033.1:c.772T>G (ATP7A)	ENSP00000509269.1:p.Ser258Ala
ENST00000685264.1:c.3508T>G (ATP7A)	ENSP00000510136.1:p.Ser1170Ala
ENST00000686033.1:c.3313T>G (ATP7A)	ENSP00000510693.1:p.Ser1105Ala
ENST00000686133.1:c.3508T>G (ATP7A)	ENSP00000509233.1:p.Ser1170Ala
ENST00000686255.1:n.2539T>G (ATP7A)
ENST00000686543.1:c.3274T>G (ATP7A)	ENSP00000509477.1:p.Ser1092Ala
ENST00000687086.1:c.3508T>G (ATP7A)	ENSP00000509566.1:p.Ser1170Ala
ENST00000689514.1:n.1550T>G (ATP7A)
ENST00000689767.1:c.3601T>G (ATP7A)	ENSP00000509406.1:p.Ser1201Ala
ENST00000692908.1:c.3274T>G (ATP7A)	ENSP00000508627.1:p.Ser1092Ala
ENST00000341514.11:c.3508T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1170Ala
ENST00000644362.1:c.-19-76049T>G (PGK1)	ENSP00000496140.1:n.-19-76049T>G
ENST00000645094.1:c.*3422T>G (ATP7A)	ENSP00000493605.1:n.*3422T>G
ENST00000341514.10:c.3508T>G (ATP7A)	ENSP00000345728.6:p.Ser1170Ala
ENST00000343533.9:c.3274T>G (ATP7A)	ENSP00000343026.5:p.Ser1092Ala
ENST00000350425.5:c.*2681T>G (ATP7A)	ENSP00000343678.5:n.*2681T>G
NM_000052.6:c.3508T>G (ATP7A)	NP_000043.4:p.Ser1170Ala
NM_001282224.1:c.3274T>G (ATP7A)	NP_001269153.1:p.Ser1092Ala
NR_104109.1:n.718T>G (ATP7A)
NM_000052.7:c.3508T>G (ATP7A) MANE Select	NP_000043.4:p.Ser1170Ala
NR_104109.2:n.681T>G (ATP7A)
NM_001282224.2:c.3274T>G (ATP7A)	NP_001269153.1:p.Ser1092Ala