Canonical Allele Identifier: CA413605833

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77301012C>T (hg19) ; chrX:g.78045515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045515C>T , CM000685.2:g.78045515C>T	GRCh38
NC_000023.10:g.77301012C>T , CM000685.1:g.77301012C>T	GRCh37
NC_000023.9:g.77187668C>T	NCBI36
NG_013224.2:g.139819C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.4199C>T (ATP7A)	ENSP00000343026.6:p.Ser1400Phe
ENST00000682475.1:n.2586C>T (ATP7A)
ENST00000685033.1:c.1433C>T (ATP7A)	ENSP00000509269.1:p.Ser478Phe
ENST00000685264.1:c.4169C>T (ATP7A)	ENSP00000510136.1:p.Ser1390Phe
ENST00000686033.1:c.3974C>T (ATP7A)	ENSP00000510693.1:p.Ser1325Phe
ENST00000686133.1:c.4169C>T (ATP7A)	ENSP00000509233.1:p.Ser1390Phe
ENST00000686255.1:n.3200C>T (ATP7A)
ENST00000686543.1:c.3935C>T (ATP7A)	ENSP00000509477.1:p.Ser1312Phe
ENST00000687086.1:c.4169C>T (ATP7A)	ENSP00000509566.1:p.Ser1390Phe
ENST00000689083.1:n.1464C>T (ATP7A)
ENST00000689767.1:c.4262C>T (ATP7A)	ENSP00000509406.1:p.Ser1421Phe
ENST00000692908.1:c.3935C>T (ATP7A)	ENSP00000508627.1:p.Ser1312Phe
ENST00000341514.11:c.4169C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1390Phe
ENST00000644362.1:c.-19-64352C>T (PGK1)	ENSP00000496140.1:n.-19-64352C>T
ENST00000341514.10:c.4169C>T (ATP7A)	ENSP00000345728.6:p.Ser1390Phe
ENST00000343533.9:c.3935C>T (ATP7A)	ENSP00000343026.5:p.Ser1312Phe
ENST00000350425.5:c.*3342C>T (ATP7A)	ENSP00000343678.5:n.*3342C>T
NM_000052.6:c.4169C>T (ATP7A)	NP_000043.4:p.Ser1390Phe
NM_001282224.1:c.3935C>T (ATP7A)	NP_001269153.1:p.Ser1312Phe
NR_104109.1:n.1379C>T (ATP7A)
NM_000052.7:c.4169C>T (ATP7A) MANE Select	NP_000043.4:p.Ser1390Phe
NR_104109.2:n.1342C>T (ATP7A)
NM_001282224.2:c.3935C>T (ATP7A)	NP_001269153.1:p.Ser1312Phe