Canonical Allele Identifier: CA10459164

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 465108
• ClinVar RCV Id: RCV000828835 ; RCV001086221 ; RCV002413531
• dbSNP Id: rs782729433
• ExAC: X:77266737 G / A
• gnomAD v2: X-77266737-G-A
• gnomAD v3: X-78011240-G-A
• gnomAD v4: X-78011240-G-A
• COSMIC: COSM3097356 ; COSM3097357
• MyVariant Identifiers: chrX:g.77266737G>A (hg19) ; chrX:g.78011240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011240G>A , CM000685.2:g.78011240G>A	GRCh38
NC_000023.10:g.77266737G>A , CM000685.1:g.77266737G>A	GRCh37
NC_000023.9:g.77153393G>A	NCBI36
NG_013224.2:g.105544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1964G>A (ATP7A)	ENSP00000343026.6:p.Arg655Gln
ENST00000682475.1:n.389G>A (ATP7A)
ENST00000685264.1:c.1934G>A (ATP7A)	ENSP00000510136.1:p.Arg645Gln
ENST00000686033.1:c.1934G>A (ATP7A)	ENSP00000510693.1:p.Arg645Gln
ENST00000686133.1:c.1934G>A (ATP7A)	ENSP00000509233.1:p.Arg645Gln
ENST00000686255.1:n.769G>A (ATP7A)
ENST00000686480.1:c.1934G>A (ATP7A)	ENSP00000508978.1:p.Arg645Gln
ENST00000686515.1:n.2074G>A (ATP7A)
ENST00000686543.1:c.1934G>A (ATP7A)	ENSP00000509477.1:p.Arg645Gln
ENST00000686688.1:c.1934G>A (ATP7A)	ENSP00000509416.1:p.Arg645Gln
ENST00000686999.1:n.2245G>A (ATP7A)
ENST00000687086.1:c.1934G>A (ATP7A)	ENSP00000509566.1:p.Arg645Gln
ENST00000687628.1:n.3947G>A (ATP7A)
ENST00000688746.1:n.2086G>A (ATP7A)
ENST00000689530.1:c.1934G>A (ATP7A)	ENSP00000509707.1:p.Arg645Gln
ENST00000689649.1:c.1934G>A (ATP7A)	ENSP00000509277.1:p.Arg645Gln
ENST00000689767.1:c.2027G>A (ATP7A)	ENSP00000509406.1:p.Arg676Gln
ENST00000689872.1:c.1870-209G>A (ATP7A)	ENSP00000509373.1:n.1870-209G>A
ENST00000692110.1:c.1850G>A (ATP7A)	ENSP00000509366.1:p.Arg617Gln
ENST00000692908.1:c.1934G>A (ATP7A)	ENSP00000508627.1:p.Arg645Gln
ENST00000693398.1:c.1934G>A (ATP7A)	ENSP00000510089.1:p.Arg645Gln
ENST00000341514.11:c.1934G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Arg645Gln
ENST00000644362.1:c.-19-98627G>A (PGK1)	ENSP00000496140.1:n.-19-98627G>A
ENST00000645094.1:c.*1848G>A (ATP7A)	ENSP00000493605.1:n.*1848G>A
ENST00000341514.10:c.1934G>A (ATP7A)	ENSP00000345728.6:p.Arg645Gln
ENST00000343533.9:c.1934G>A (ATP7A)	ENSP00000343026.5:p.Arg645Gln
ENST00000350425.5:c.*1107G>A (ATP7A)	ENSP00000343678.5:n.*1107G>A
NM_000052.6:c.1934G>A (ATP7A)	NP_000043.4:p.Arg645Gln
NM_001282224.1:c.1934G>A (ATP7A)	NP_001269153.1:p.Arg645Gln
NR_104109.1:n.322-20160G>A (ATP7A)
NM_000052.7:c.1934G>A (ATP7A) MANE Select	NP_000043.4:p.Arg645Gln
NR_104109.2:n.285-20160G>A (ATP7A)
NM_001282224.2:c.1934G>A (ATP7A)	NP_001269153.1:p.Arg645Gln