Canonical Allele Identifier: CA517074371

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289291T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033793T>C , CM000685.2:g.78033793T>C	GRCh38
NC_000023.10:g.77289291T>C , CM000685.1:g.77289291T>C	GRCh37
NC_000023.9:g.77175947T>C	NCBI36
NG_013224.2:g.128097T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3513T>C (ATP7A)	ENSP00000343026.6:p.Ser1171=
ENST00000682475.1:n.1900T>C (ATP7A)
ENST00000685033.1:c.747T>C (ATP7A)	ENSP00000509269.1:p.Ser249=
ENST00000685264.1:c.3483T>C (ATP7A)	ENSP00000510136.1:p.Ser1161=
ENST00000686033.1:c.3288T>C (ATP7A)	ENSP00000510693.1:p.Ser1096=
ENST00000686133.1:c.3483T>C (ATP7A)	ENSP00000509233.1:p.Ser1161=
ENST00000686255.1:n.2514T>C (ATP7A)
ENST00000686543.1:c.3249T>C (ATP7A)	ENSP00000509477.1:p.Ser1083=
ENST00000687086.1:c.3483T>C (ATP7A)	ENSP00000509566.1:p.Ser1161=
ENST00000689514.1:n.1525T>C (ATP7A)
ENST00000689767.1:c.3576T>C (ATP7A)	ENSP00000509406.1:p.Ser1192=
ENST00000692908.1:c.3249T>C (ATP7A)	ENSP00000508627.1:p.Ser1083=
ENST00000341514.11:c.3483T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1161=
ENST00000644362.1:c.-19-76074T>C (PGK1)	ENSP00000496140.1:n.-19-76074T>C
ENST00000645094.1:c.*3397T>C (ATP7A)	ENSP00000493605.1:n.*3397T>C
ENST00000341514.10:c.3483T>C (ATP7A)	ENSP00000345728.6:p.Ser1161=
ENST00000343533.9:c.3249T>C (ATP7A)	ENSP00000343026.5:p.Ser1083=
ENST00000350425.5:c.*2656T>C (ATP7A)	ENSP00000343678.5:n.*2656T>C
NM_000052.6:c.3483T>C (ATP7A)	NP_000043.4:p.Ser1161=
NM_001282224.1:c.3249T>C (ATP7A)	NP_001269153.1:p.Ser1083=
NR_104109.1:n.693T>C (ATP7A)
NM_000052.7:c.3483T>C (ATP7A) MANE Select	NP_000043.4:p.Ser1161=
NR_104109.2:n.656T>C (ATP7A)
NM_001282224.2:c.3249T>C (ATP7A)	NP_001269153.1:p.Ser1083=