Canonical Allele Identifier: CA413604244

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 459840
• ClinVar RCV Id: RCV000530815
• dbSNP Id: rs1557237451
• MyVariant Identifiers: chrX:g.77289281C>A (hg19) ; chrX:g.78033783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033783C>A , CM000685.2:g.78033783C>A	GRCh38
NC_000023.10:g.77289281C>A , CM000685.1:g.77289281C>A	GRCh37
NC_000023.9:g.77175937C>A	NCBI36
NG_013224.2:g.128087C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3503C>A (ATP7A)	ENSP00000343026.6:p.Ser1168Ter
ENST00000682475.1:n.1890C>A (ATP7A)
ENST00000685033.1:c.737C>A (ATP7A)	ENSP00000509269.1:p.Ser246Ter
ENST00000685264.1:c.3473C>A (ATP7A)	ENSP00000510136.1:p.Ser1158Ter
ENST00000686033.1:c.3278C>A (ATP7A)	ENSP00000510693.1:p.Ser1093Ter
ENST00000686133.1:c.3473C>A (ATP7A)	ENSP00000509233.1:p.Ser1158Ter
ENST00000686255.1:n.2504C>A (ATP7A)
ENST00000686543.1:c.3239C>A (ATP7A)	ENSP00000509477.1:p.Ser1080Ter
ENST00000687086.1:c.3473C>A (ATP7A)	ENSP00000509566.1:p.Ser1158Ter
ENST00000689514.1:n.1515C>A (ATP7A)
ENST00000689767.1:c.3566C>A (ATP7A)	ENSP00000509406.1:p.Ser1189Ter
ENST00000692908.1:c.3239C>A (ATP7A)	ENSP00000508627.1:p.Ser1080Ter
ENST00000341514.11:c.3473C>A (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1158Ter
ENST00000644362.1:c.-19-76084C>A (PGK1)	ENSP00000496140.1:n.-19-76084C>A
ENST00000645094.1:c.*3387C>A (ATP7A)	ENSP00000493605.1:n.*3387C>A
ENST00000341514.10:c.3473C>A (ATP7A)	ENSP00000345728.6:p.Ser1158Ter
ENST00000343533.9:c.3239C>A (ATP7A)	ENSP00000343026.5:p.Ser1080Ter
ENST00000350425.5:c.*2646C>A (ATP7A)	ENSP00000343678.5:n.*2646C>A
NM_000052.6:c.3473C>A (ATP7A)	NP_000043.4:p.Ser1158Ter
NM_001282224.1:c.3239C>A (ATP7A)	NP_001269153.1:p.Ser1080Ter
NR_104109.1:n.683C>A (ATP7A)
NM_000052.7:c.3473C>A (ATP7A) MANE Select	NP_000043.4:p.Ser1158Ter
NR_104109.2:n.646C>A (ATP7A)
NM_001282224.2:c.3239C>A (ATP7A)	NP_001269153.1:p.Ser1080Ter