Canonical Allele Identifier: CA413603881

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289122T>C (hg19) ; chrX:g.78033624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033624T>C , CM000685.2:g.78033624T>C	GRCh38
NC_000023.10:g.77289122T>C , CM000685.1:g.77289122T>C	GRCh37
NC_000023.9:g.77175778T>C	NCBI36
NG_013224.2:g.127928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3344T>C (ATP7A)	ENSP00000343026.6:p.Leu1115Ser
ENST00000682475.1:n.1731T>C (ATP7A)
ENST00000685033.1:c.578T>C (ATP7A)	ENSP00000509269.1:p.Leu193Ser
ENST00000685264.1:c.3314T>C (ATP7A)	ENSP00000510136.1:p.Leu1105Ser
ENST00000686033.1:c.3119T>C (ATP7A)	ENSP00000510693.1:p.Leu1040Ser
ENST00000686133.1:c.3314T>C (ATP7A)	ENSP00000509233.1:p.Leu1105Ser
ENST00000686255.1:n.2345T>C (ATP7A)
ENST00000686543.1:c.3080T>C (ATP7A)	ENSP00000509477.1:p.Leu1027Ser
ENST00000687086.1:c.3314T>C (ATP7A)	ENSP00000509566.1:p.Leu1105Ser
ENST00000689514.1:n.1356T>C (ATP7A)
ENST00000689767.1:c.3407T>C (ATP7A)	ENSP00000509406.1:p.Leu1136Ser
ENST00000692908.1:c.3080T>C (ATP7A)	ENSP00000508627.1:p.Leu1027Ser
ENST00000341514.11:c.3314T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Leu1105Ser
ENST00000644362.1:c.-19-76243T>C (PGK1)	ENSP00000496140.1:n.-19-76243T>C
ENST00000645094.1:c.*3228T>C (ATP7A)	ENSP00000493605.1:n.*3228T>C
ENST00000341514.10:c.3314T>C (ATP7A)	ENSP00000345728.6:p.Leu1105Ser
ENST00000343533.9:c.3080T>C (ATP7A)	ENSP00000343026.5:p.Leu1027Ser
ENST00000350425.5:c.*2487T>C (ATP7A)	ENSP00000343678.5:n.*2487T>C
NM_000052.6:c.3314T>C (ATP7A)	NP_000043.4:p.Leu1105Ser
NM_001282224.1:c.3080T>C (ATP7A)	NP_001269153.1:p.Leu1027Ser
NR_104109.1:n.524T>C (ATP7A)
NM_000052.7:c.3314T>C (ATP7A) MANE Select	NP_000043.4:p.Leu1105Ser
NR_104109.2:n.487T>C (ATP7A)
NM_001282224.2:c.3080T>C (ATP7A)	NP_001269153.1:p.Leu1027Ser