Canonical Allele Identifier: CA10458931

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 511294
• ClinVar RCV Id: RCV000888366 ; RCV001456845
• dbSNP Id: rs782643553
• ExAC: X:77244130 C / T
• gnomAD v2: X-77244130-C-T
• gnomAD v3: X-77988634-C-T
• gnomAD v4: X-77988634-C-T
• COSMIC: COSM4429043 ; COSM4429044
• MyVariant Identifiers: chrX:g.77244130C>T (hg19) ; chrX:g.77988634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77988634C>T , CM000685.2:g.77988634C>T	GRCh38
NC_000023.10:g.77244130C>T , CM000685.1:g.77244130C>T	GRCh37
NC_000023.9:g.77130786C>T	NCBI36
NG_013224.2:g.82938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.543C>T (ATP7A)	ENSP00000343026.6:p.Val181=
ENST00000682742.2:n.675C>T (ATP7A)
ENST00000685208.1:n.675C>T (ATP7A)
ENST00000685264.1:c.513C>T (ATP7A)	ENSP00000510136.1:p.Val171=
ENST00000685434.1:n.631C>T (ATP7A)
ENST00000685885.1:c.549C>T (ATP7A)	ENSP00000510005.1:p.Val183=
ENST00000686033.1:c.513C>T (ATP7A)	ENSP00000510693.1:p.Val171=
ENST00000686133.1:c.513C>T (ATP7A)	ENSP00000509233.1:p.Val171=
ENST00000686416.1:n.867C>T (ATP7A)
ENST00000686480.1:c.513C>T (ATP7A)	ENSP00000508978.1:p.Val171=
ENST00000686515.1:n.653C>T (ATP7A)
ENST00000686543.1:c.513C>T (ATP7A)	ENSP00000509477.1:p.Val171=
ENST00000686688.1:c.513C>T (ATP7A)	ENSP00000509416.1:p.Val171=
ENST00000686999.1:n.824C>T (ATP7A)
ENST00000687082.1:n.631C>T (ATP7A)
ENST00000687086.1:c.513C>T (ATP7A)	ENSP00000509566.1:p.Val171=
ENST00000687325.1:n.816C>T (ATP7A)
ENST00000687416.1:c.513C>T (ATP7A)	ENSP00000510310.1:p.Val171=
ENST00000687599.1:c.513C>T (ATP7A)	ENSP00000508745.1:p.Val171=
ENST00000687628.1:n.614C>T (ATP7A)
ENST00000687984.1:c.513C>T (ATP7A)	ENSP00000510772.1:p.Val171=
ENST00000688249.1:c.513C>T (ATP7A)	ENSP00000510644.1:p.Val171=
ENST00000688338.1:c.513C>T (ATP7A)	ENSP00000508672.1:p.Val171=
ENST00000688746.1:n.665C>T (ATP7A)
ENST00000688889.1:c.*427C>T (ATP7A)	ENSP00000508610.1:n.*427C>T
ENST00000689530.1:c.513C>T (ATP7A)	ENSP00000509707.1:p.Val171=
ENST00000689541.1:n.822C>T (ATP7A)
ENST00000689649.1:c.513C>T (ATP7A)	ENSP00000509277.1:p.Val171=
ENST00000689767.1:c.513C>T (ATP7A)	ENSP00000509406.1:p.Val171=
ENST00000689872.1:c.513C>T (ATP7A)	ENSP00000509373.1:p.Val171=
ENST00000689891.1:c.513C>T (ATP7A)	ENSP00000508974.1:p.Val171=
ENST00000691152.1:c.513C>T (ATP7A)	ENSP00000508843.1:p.Val171=
ENST00000691456.1:n.804C>T (ATP7A)
ENST00000692110.1:c.513C>T (ATP7A)	ENSP00000509366.1:p.Val171=
ENST00000692908.1:c.513C>T (ATP7A)	ENSP00000508627.1:p.Val171=
ENST00000693051.1:c.513C>T (ATP7A)	ENSP00000510332.1:p.Val171=
ENST00000693387.1:c.*442C>T (ATP7A)	ENSP00000508732.1:n.*442C>T
ENST00000693398.1:c.513C>T (ATP7A)	ENSP00000510089.1:p.Val171=
ENST00000341514.11:c.513C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Val171=
ENST00000644362.1:c.-20+77799C>T (PGK1)	ENSP00000496140.1:n.-20+77799C>T
ENST00000645094.1:c.*427C>T (ATP7A)	ENSP00000493605.1:n.*427C>T
ENST00000341514.10:c.513C>T (ATP7A)	ENSP00000345728.6:p.Val171=
ENST00000343533.9:c.513C>T (ATP7A)	ENSP00000343026.5:p.Val171=
ENST00000350425.5:c.513C>T (ATP7A)	ENSP00000343678.5:p.Val171=
NM_000052.6:c.513C>T (ATP7A)	NP_000043.4:p.Val171=
NM_001282224.1:c.513C>T (ATP7A)	NP_001269153.1:p.Val171=
NR_104109.1:n.321+16873C>T (ATP7A)
NM_000052.7:c.513C>T (ATP7A) MANE Select	NP_000043.4:p.Val171=
NR_104109.2:n.284+16873C>T (ATP7A)
NM_001282224.2:c.513C>T (ATP7A)	NP_001269153.1:p.Val171=