Canonical Allele Identifier: CA256065

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 11782
• ClinVar RCV Id: RCV000012549 ; RCV000195239
• dbSNP Id: rs151340631
• MyVariant Identifiers: chrX:g.77266713C>T (hg19) ; chrX:g.78011216C>T (hg38)
• PubMed: PMID:8981948 ; PMID:9246006

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011216C>T , CM000685.2:g.78011216C>T	GRCh38
NC_000023.10:g.77266713C>T , CM000685.1:g.77266713C>T	GRCh37
NC_000023.9:g.77153369C>T	NCBI36
NG_013224.2:g.105520C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1940C>T (ATP7A)	ENSP00000343026.6:p.Ser647Leu
ENST00000682475.1:n.365C>T (ATP7A)
ENST00000685264.1:c.1910C>T (ATP7A)	ENSP00000510136.1:p.Ser637Leu
ENST00000686033.1:c.1910C>T (ATP7A)	ENSP00000510693.1:p.Ser637Leu
ENST00000686133.1:c.1910C>T (ATP7A)	ENSP00000509233.1:p.Ser637Leu
ENST00000686255.1:n.745C>T (ATP7A)
ENST00000686480.1:c.1910C>T (ATP7A)	ENSP00000508978.1:p.Ser637Leu
ENST00000686515.1:n.2050C>T (ATP7A)
ENST00000686543.1:c.1910C>T (ATP7A)	ENSP00000509477.1:p.Ser637Leu
ENST00000686688.1:c.1910C>T (ATP7A)	ENSP00000509416.1:p.Ser637Leu
ENST00000686999.1:n.2221C>T (ATP7A)
ENST00000687086.1:c.1910C>T (ATP7A)	ENSP00000509566.1:p.Ser637Leu
ENST00000687628.1:n.3923C>T (ATP7A)
ENST00000688746.1:n.2062C>T (ATP7A)
ENST00000689530.1:c.1910C>T (ATP7A)	ENSP00000509707.1:p.Ser637Leu
ENST00000689649.1:c.1910C>T (ATP7A)	ENSP00000509277.1:p.Ser637Leu
ENST00000689767.1:c.2003C>T (ATP7A)	ENSP00000509406.1:p.Ser668Leu
ENST00000689872.1:c.1870-233C>T (ATP7A)	ENSP00000509373.1:n.1870-233C>T
ENST00000692110.1:c.1826C>T (ATP7A)	ENSP00000509366.1:p.Ser609Leu
ENST00000692908.1:c.1910C>T (ATP7A)	ENSP00000508627.1:p.Ser637Leu
ENST00000693398.1:c.1910C>T (ATP7A)	ENSP00000510089.1:p.Ser637Leu
ENST00000341514.11:c.1910C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Ser637Leu
ENST00000644362.1:c.-19-98651C>T (PGK1)	ENSP00000496140.1:n.-19-98651C>T
ENST00000645094.1:c.*1824C>T (ATP7A)	ENSP00000493605.1:n.*1824C>T
ENST00000341514.10:c.1910C>T (ATP7A)	ENSP00000345728.6:p.Ser637Leu
ENST00000343533.9:c.1910C>T (ATP7A)	ENSP00000343026.5:p.Ser637Leu
ENST00000350425.5:c.*1083C>T (ATP7A)	ENSP00000343678.5:n.*1083C>T
NM_000052.6:c.1910C>T (ATP7A)	NP_000043.4:p.Ser637Leu
NM_001282224.1:c.1910C>T (ATP7A)	NP_001269153.1:p.Ser637Leu
NR_104109.1:n.322-20184C>T (ATP7A)
NM_000052.7:c.1910C>T (ATP7A) MANE Select	NP_000043.4:p.Ser637Leu
NR_104109.2:n.285-20184C>T (ATP7A)
NM_001282224.2:c.1910C>T (ATP7A)	NP_001269153.1:p.Ser637Leu