Canonical Allele Identifier: CA413598412

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1699035
• ClinVar RCV Id: RCV002272892
• dbSNP Id: rs2149095258
• MyVariant Identifiers: chrX:g.77267095T>A (hg19) ; chrX:g.78011598T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011598T>A , CM000685.2:g.78011598T>A	GRCh38
NC_000023.10:g.77267095T>A , CM000685.1:g.77267095T>A	GRCh37
NC_000023.9:g.77153751T>A	NCBI36
NG_013224.2:g.105902T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2126T>A (ATP7A)	ENSP00000343026.6:p.Met709Lys
ENST00000682475.1:n.747T>A (ATP7A)
ENST00000685264.1:c.2096T>A (ATP7A)	ENSP00000510136.1:p.Met699Lys
ENST00000686033.1:c.2096T>A (ATP7A)	ENSP00000510693.1:p.Met699Lys
ENST00000686133.1:c.2096T>A (ATP7A)	ENSP00000509233.1:p.Met699Lys
ENST00000686255.1:n.1127T>A (ATP7A)
ENST00000686480.1:c.2096T>A (ATP7A)	ENSP00000508978.1:p.Met699Lys
ENST00000686515.1:n.2236T>A (ATP7A)
ENST00000686543.1:c.2096T>A (ATP7A)	ENSP00000509477.1:p.Met699Lys
ENST00000686688.1:c.2096T>A (ATP7A)	ENSP00000509416.1:p.Met699Lys
ENST00000686999.1:n.2407T>A (ATP7A)
ENST00000687086.1:c.2096T>A (ATP7A)	ENSP00000509566.1:p.Met699Lys
ENST00000687628.1:n.4305T>A (ATP7A)
ENST00000688746.1:n.2248T>A (ATP7A)
ENST00000689514.1:n.138T>A (ATP7A)
ENST00000689530.1:c.2096T>A (ATP7A)	ENSP00000509707.1:p.Met699Lys
ENST00000689649.1:c.2096T>A (ATP7A)	ENSP00000509277.1:p.Met699Lys
ENST00000689767.1:c.2189T>A (ATP7A)	ENSP00000509406.1:p.Met730Lys
ENST00000689872.1:c.*45T>A (ATP7A)	ENSP00000509373.1:n.*45T>A
ENST00000692110.1:c.2012T>A (ATP7A)	ENSP00000509366.1:p.Met671Lys
ENST00000692908.1:c.2096T>A (ATP7A)	ENSP00000508627.1:p.Met699Lys
ENST00000693398.1:c.2096T>A (ATP7A)	ENSP00000510089.1:p.Met699Lys
ENST00000341514.11:c.2096T>A (ATP7A) MANE Select	ENSP00000345728.6:p.Met699Lys
ENST00000644362.1:c.-19-98269T>A (PGK1)	ENSP00000496140.1:n.-19-98269T>A
ENST00000645094.1:c.*2010T>A (ATP7A)	ENSP00000493605.1:n.*2010T>A
ENST00000341514.10:c.2096T>A (ATP7A)	ENSP00000345728.6:p.Met699Lys
ENST00000343533.9:c.2096T>A (ATP7A)	ENSP00000343026.5:p.Met699Lys
ENST00000350425.5:c.*1269T>A (ATP7A)	ENSP00000343678.5:n.*1269T>A
NM_000052.6:c.2096T>A (ATP7A)	NP_000043.4:p.Met699Lys
NM_001282224.1:c.2096T>A (ATP7A)	NP_001269153.1:p.Met699Lys
NR_104109.1:n.322-19802T>A (ATP7A)
NM_000052.7:c.2096T>A (ATP7A) MANE Select	NP_000043.4:p.Met699Lys
NR_104109.2:n.285-19802T>A (ATP7A)
NM_001282224.2:c.2096T>A (ATP7A)	NP_001269153.1:p.Met699Lys