Canonical Allele Identifier: CA413604096

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289217A>C (hg19) ; chrX:g.78033719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033719A>C , CM000685.2:g.78033719A>C	GRCh38
NC_000023.10:g.77289217A>C , CM000685.1:g.77289217A>C	GRCh37
NC_000023.9:g.77175873A>C	NCBI36
NG_013224.2:g.128023A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3439A>C (ATP7A)	ENSP00000343026.6:p.Ile1147Leu
ENST00000682475.1:n.1826A>C (ATP7A)
ENST00000685033.1:c.673A>C (ATP7A)	ENSP00000509269.1:p.Ile225Leu
ENST00000685264.1:c.3409A>C (ATP7A)	ENSP00000510136.1:p.Ile1137Leu
ENST00000686033.1:c.3214A>C (ATP7A)	ENSP00000510693.1:p.Ile1072Leu
ENST00000686133.1:c.3409A>C (ATP7A)	ENSP00000509233.1:p.Ile1137Leu
ENST00000686255.1:n.2440A>C (ATP7A)
ENST00000686543.1:c.3175A>C (ATP7A)	ENSP00000509477.1:p.Ile1059Leu
ENST00000687086.1:c.3409A>C (ATP7A)	ENSP00000509566.1:p.Ile1137Leu
ENST00000689514.1:n.1451A>C (ATP7A)
ENST00000689767.1:c.3502A>C (ATP7A)	ENSP00000509406.1:p.Ile1168Leu
ENST00000692908.1:c.3175A>C (ATP7A)	ENSP00000508627.1:p.Ile1059Leu
ENST00000341514.11:c.3409A>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ile1137Leu
ENST00000644362.1:c.-19-76148A>C (PGK1)	ENSP00000496140.1:n.-19-76148A>C
ENST00000645094.1:c.*3323A>C (ATP7A)	ENSP00000493605.1:n.*3323A>C
ENST00000341514.10:c.3409A>C (ATP7A)	ENSP00000345728.6:p.Ile1137Leu
ENST00000343533.9:c.3175A>C (ATP7A)	ENSP00000343026.5:p.Ile1059Leu
ENST00000350425.5:c.*2582A>C (ATP7A)	ENSP00000343678.5:n.*2582A>C
NM_000052.6:c.3409A>C (ATP7A)	NP_000043.4:p.Ile1137Leu
NM_001282224.1:c.3175A>C (ATP7A)	NP_001269153.1:p.Ile1059Leu
NR_104109.1:n.619A>C (ATP7A)
NM_000052.7:c.3409A>C (ATP7A) MANE Select	NP_000043.4:p.Ile1137Leu
NR_104109.2:n.582A>C (ATP7A)
NM_001282224.2:c.3175A>C (ATP7A)	NP_001269153.1:p.Ile1059Leu