Canonical Allele Identifier: CA413598524

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1702329
• ClinVar RCV Id: RCV002278119 ; RCV003774911
• dbSNP Id: rs1557234537
• gnomAD v2: X-77267148-T-G
• gnomAD v3: X-78011651-T-G
• gnomAD v4: X-78011651-T-G
• MyVariant Identifiers: chrX:g.77267148T>G (hg19) ; chrX:g.78011651T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011651T>G , CM000685.2:g.78011651T>G	GRCh38
NC_000023.10:g.77267148T>G , CM000685.1:g.77267148T>G	GRCh37
NC_000023.9:g.77153804T>G	NCBI36
NG_013224.2:g.105955T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2179T>G (ATP7A)	ENSP00000343026.6:p.Phe727Val
ENST00000682475.1:n.800T>G (ATP7A)
ENST00000685264.1:c.2149T>G (ATP7A)	ENSP00000510136.1:p.Phe717Val
ENST00000686033.1:c.2149T>G (ATP7A)	ENSP00000510693.1:p.Phe717Val
ENST00000686133.1:c.2149T>G (ATP7A)	ENSP00000509233.1:p.Phe717Val
ENST00000686255.1:n.1180T>G (ATP7A)
ENST00000686480.1:c.2149T>G (ATP7A)	ENSP00000508978.1:p.Phe717Val
ENST00000686515.1:n.2289T>G (ATP7A)
ENST00000686543.1:c.2149T>G (ATP7A)	ENSP00000509477.1:p.Phe717Val
ENST00000686688.1:c.2149T>G (ATP7A)	ENSP00000509416.1:p.Phe717Val
ENST00000686999.1:n.2460T>G (ATP7A)
ENST00000687086.1:c.2149T>G (ATP7A)	ENSP00000509566.1:p.Phe717Val
ENST00000687628.1:n.4358T>G (ATP7A)
ENST00000688746.1:n.2301T>G (ATP7A)
ENST00000689514.1:n.191T>G (ATP7A)
ENST00000689530.1:c.2149T>G (ATP7A)	ENSP00000509707.1:p.Phe717Val
ENST00000689649.1:c.2149T>G (ATP7A)	ENSP00000509277.1:p.Phe717Val
ENST00000689767.1:c.2242T>G (ATP7A)	ENSP00000509406.1:p.Phe748Val
ENST00000689872.1:c.*98T>G (ATP7A)	ENSP00000509373.1:n.*98T>G
ENST00000692110.1:c.2065T>G (ATP7A)	ENSP00000509366.1:p.Phe689Val
ENST00000692908.1:c.2149T>G (ATP7A)	ENSP00000508627.1:p.Phe717Val
ENST00000693398.1:c.2149T>G (ATP7A)	ENSP00000510089.1:p.Phe717Val
ENST00000341514.11:c.2149T>G (ATP7A) MANE Select	ENSP00000345728.6:p.Phe717Val
ENST00000644362.1:c.-19-98216T>G (PGK1)	ENSP00000496140.1:n.-19-98216T>G
ENST00000645094.1:c.*2063T>G (ATP7A)	ENSP00000493605.1:n.*2063T>G
ENST00000341514.10:c.2149T>G (ATP7A)	ENSP00000345728.6:p.Phe717Val
ENST00000343533.9:c.2149T>G (ATP7A)	ENSP00000343026.5:p.Phe717Val
ENST00000350425.5:c.*1322T>G (ATP7A)	ENSP00000343678.5:n.*1322T>G
NM_000052.6:c.2149T>G (ATP7A)	NP_000043.4:p.Phe717Val
NM_001282224.1:c.2149T>G (ATP7A)	NP_001269153.1:p.Phe717Val
NR_104109.1:n.322-19749T>G (ATP7A)
NM_000052.7:c.2149T>G (ATP7A) MANE Select	NP_000043.4:p.Phe717Val
NR_104109.2:n.285-19749T>G (ATP7A)
NM_001282224.2:c.2149T>G (ATP7A)	NP_001269153.1:p.Phe717Val