Canonical Allele Identifier: CA413599485

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 841059
• ClinVar RCV Id: RCV001043203 ; RCV001827261
• dbSNP Id: rs781834675
• MyVariant Identifiers: chrX:g.77268568G>T (hg19) ; chrX:g.78013071G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78013071G>T , CM000685.2:g.78013071G>T	GRCh38
NC_000023.10:g.77268568G>T , CM000685.1:g.77268568G>T	GRCh37
NC_000023.9:g.77155224G>T	NCBI36
NG_013224.2:g.107375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2395G>T (ATP7A)	ENSP00000343026.6:p.Val799Leu
ENST00000682475.1:n.823+1397G>T (ATP7A)
ENST00000685264.1:c.2365G>T (ATP7A)	ENSP00000510136.1:p.Val789Leu
ENST00000686033.1:c.2365G>T (ATP7A)	ENSP00000510693.1:p.Val789Leu
ENST00000686133.1:c.2365G>T (ATP7A)	ENSP00000509233.1:p.Val789Leu
ENST00000686255.1:n.1396G>T (ATP7A)
ENST00000686480.1:c.2172+1397G>T (ATP7A)	ENSP00000508978.1:n.2172+1397G>T
ENST00000686543.1:c.2172+1397G>T (ATP7A)	ENSP00000509477.1:n.2172+1397G>T
ENST00000686688.1:c.2365G>T (ATP7A)	ENSP00000509416.1:p.Val789Leu
ENST00000687086.1:c.2365G>T (ATP7A)	ENSP00000509566.1:p.Val789Leu
ENST00000688746.1:n.3721G>T (ATP7A)
ENST00000689514.1:n.407G>T (ATP7A)
ENST00000689530.1:c.2365G>T (ATP7A)	ENSP00000509707.1:p.Val789Leu
ENST00000689649.1:c.2365G>T (ATP7A)	ENSP00000509277.1:p.Val789Leu
ENST00000689767.1:c.2458G>T (ATP7A)	ENSP00000509406.1:p.Val820Leu
ENST00000689872.1:c.*314G>T (ATP7A)	ENSP00000509373.1:n.*314G>T
ENST00000692908.1:c.2172+1397G>T (ATP7A)	ENSP00000508627.1:n.2172+1397G>T
ENST00000693398.1:c.2365G>T (ATP7A)	ENSP00000510089.1:p.Val789Leu
ENST00000341514.11:c.2365G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Val789Leu
ENST00000644362.1:c.-19-96796G>T (PGK1)	ENSP00000496140.1:n.-19-96796G>T
ENST00000645094.1:c.*2279G>T (ATP7A)	ENSP00000493605.1:n.*2279G>T
ENST00000341514.10:c.2365G>T (ATP7A)	ENSP00000345728.6:p.Val789Leu
ENST00000343533.9:c.2172+1397G>T (ATP7A)	ENSP00000343026.5:n.2172+1397G>T
ENST00000350425.5:c.*1538G>T (ATP7A)	ENSP00000343678.5:n.*1538G>T
NM_000052.6:c.2365G>T (ATP7A)	NP_000043.4:p.Val789Leu
NM_001282224.1:c.2172+1397G>T (ATP7A)	NP_001269153.1:n.2172+1397G>T
NR_104109.1:n.322-18329G>T (ATP7A)
NM_000052.7:c.2365G>T (ATP7A) MANE Select	NP_000043.4:p.Val789Leu
NR_104109.2:n.285-18329G>T (ATP7A)
NM_001282224.2:c.2172+1397G>T (ATP7A)	NP_001269153.1:n.2172+1397G>T