Canonical Allele Identifier: CA517464134

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77244205G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77988709G>C , CM000685.2:g.77988709G>C	GRCh38
NC_000023.10:g.77244205G>C , CM000685.1:g.77244205G>C	GRCh37
NC_000023.9:g.77130861G>C	NCBI36
NG_013224.2:g.83013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.618G>C (ATP7A)	ENSP00000343026.6:p.Leu206=
ENST00000682742.2:n.750G>C (ATP7A)
ENST00000685208.1:n.750G>C (ATP7A)
ENST00000685264.1:c.588G>C (ATP7A)	ENSP00000510136.1:p.Leu196=
ENST00000685434.1:n.706G>C (ATP7A)
ENST00000685885.1:c.624G>C (ATP7A)	ENSP00000510005.1:p.Leu208=
ENST00000686033.1:c.588G>C (ATP7A)	ENSP00000510693.1:p.Leu196=
ENST00000686133.1:c.588G>C (ATP7A)	ENSP00000509233.1:p.Leu196=
ENST00000686416.1:n.942G>C (ATP7A)
ENST00000686480.1:c.588G>C (ATP7A)	ENSP00000508978.1:p.Leu196=
ENST00000686515.1:n.728G>C (ATP7A)
ENST00000686543.1:c.588G>C (ATP7A)	ENSP00000509477.1:p.Leu196=
ENST00000686688.1:c.588G>C (ATP7A)	ENSP00000509416.1:p.Leu196=
ENST00000686999.1:n.899G>C (ATP7A)
ENST00000687082.1:n.706G>C (ATP7A)
ENST00000687086.1:c.588G>C (ATP7A)	ENSP00000509566.1:p.Leu196=
ENST00000687325.1:n.891G>C (ATP7A)
ENST00000687416.1:c.588G>C (ATP7A)	ENSP00000510310.1:p.Leu196=
ENST00000687599.1:c.588G>C (ATP7A)	ENSP00000508745.1:p.Leu196=
ENST00000687628.1:n.689G>C (ATP7A)
ENST00000687984.1:c.588G>C (ATP7A)	ENSP00000510772.1:p.Leu196=
ENST00000688249.1:c.588G>C (ATP7A)	ENSP00000510644.1:p.Leu196=
ENST00000688338.1:c.588G>C (ATP7A)	ENSP00000508672.1:p.Leu196=
ENST00000688746.1:n.740G>C (ATP7A)
ENST00000688889.1:c.*502G>C (ATP7A)	ENSP00000508610.1:n.*502G>C
ENST00000689530.1:c.588G>C (ATP7A)	ENSP00000509707.1:p.Leu196=
ENST00000689541.1:n.897G>C (ATP7A)
ENST00000689649.1:c.588G>C (ATP7A)	ENSP00000509277.1:p.Leu196=
ENST00000689767.1:c.588G>C (ATP7A)	ENSP00000509406.1:p.Leu196=
ENST00000689872.1:c.588G>C (ATP7A)	ENSP00000509373.1:p.Leu196=
ENST00000689891.1:c.588G>C (ATP7A)	ENSP00000508974.1:p.Leu196=
ENST00000691152.1:c.588G>C (ATP7A)	ENSP00000508843.1:p.Leu196=
ENST00000691456.1:n.879G>C (ATP7A)
ENST00000692110.1:c.588G>C (ATP7A)	ENSP00000509366.1:p.Leu196=
ENST00000692908.1:c.588G>C (ATP7A)	ENSP00000508627.1:p.Leu196=
ENST00000693051.1:c.588G>C (ATP7A)	ENSP00000510332.1:p.Leu196=
ENST00000693387.1:c.*517G>C (ATP7A)	ENSP00000508732.1:n.*517G>C
ENST00000693398.1:c.588G>C (ATP7A)	ENSP00000510089.1:p.Leu196=
ENST00000341514.11:c.588G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Leu196=
ENST00000644362.1:c.-20+77874G>C (PGK1)	ENSP00000496140.1:n.-20+77874G>C
ENST00000645094.1:c.*502G>C (ATP7A)	ENSP00000493605.1:n.*502G>C
ENST00000341514.10:c.588G>C (ATP7A)	ENSP00000345728.6:p.Leu196=
ENST00000343533.9:c.588G>C (ATP7A)	ENSP00000343026.5:p.Leu196=
ENST00000350425.5:c.588G>C (ATP7A)	ENSP00000343678.5:p.Leu196=
NM_000052.6:c.588G>C (ATP7A)	NP_000043.4:p.Leu196=
NM_001282224.1:c.588G>C (ATP7A)	NP_001269153.1:p.Leu196=
NR_104109.1:n.321+16948G>C (ATP7A)
NM_000052.7:c.588G>C (ATP7A) MANE Select	NP_000043.4:p.Leu196=
NR_104109.2:n.284+16948G>C (ATP7A)
NM_001282224.2:c.588G>C (ATP7A)	NP_001269153.1:p.Leu196=