Canonical Allele Identifier: CA413598324

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 2926013
• ClinVar RCV Id: RCV003786299
• gnomAD v4: X-78011561-A-T
• MyVariant Identifiers: chrX:g.77267058A>T (hg19) ; chrX:g.78011561A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011561A>T , CM000685.2:g.78011561A>T	GRCh38
NC_000023.10:g.77267058A>T , CM000685.1:g.77267058A>T	GRCh37
NC_000023.9:g.77153714A>T	NCBI36
NG_013224.2:g.105865A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2089A>T (ATP7A)	ENSP00000343026.6:p.Met697Leu
ENST00000682475.1:n.710A>T (ATP7A)
ENST00000685264.1:c.2059A>T (ATP7A)	ENSP00000510136.1:p.Met687Leu
ENST00000686033.1:c.2059A>T (ATP7A)	ENSP00000510693.1:p.Met687Leu
ENST00000686133.1:c.2059A>T (ATP7A)	ENSP00000509233.1:p.Met687Leu
ENST00000686255.1:n.1090A>T (ATP7A)
ENST00000686480.1:c.2059A>T (ATP7A)	ENSP00000508978.1:p.Met687Leu
ENST00000686515.1:n.2199A>T (ATP7A)
ENST00000686543.1:c.2059A>T (ATP7A)	ENSP00000509477.1:p.Met687Leu
ENST00000686688.1:c.2059A>T (ATP7A)	ENSP00000509416.1:p.Met687Leu
ENST00000686999.1:n.2370A>T (ATP7A)
ENST00000687086.1:c.2059A>T (ATP7A)	ENSP00000509566.1:p.Met687Leu
ENST00000687628.1:n.4268A>T (ATP7A)
ENST00000688746.1:n.2211A>T (ATP7A)
ENST00000689514.1:n.101A>T (ATP7A)
ENST00000689530.1:c.2059A>T (ATP7A)	ENSP00000509707.1:p.Met687Leu
ENST00000689649.1:c.2059A>T (ATP7A)	ENSP00000509277.1:p.Met687Leu
ENST00000689767.1:c.2152A>T (ATP7A)	ENSP00000509406.1:p.Met718Leu
ENST00000689872.1:c.*8A>T (ATP7A)	ENSP00000509373.1:n.*8A>T
ENST00000692110.1:c.1975A>T (ATP7A)	ENSP00000509366.1:p.Met659Leu
ENST00000692908.1:c.2059A>T (ATP7A)	ENSP00000508627.1:p.Met687Leu
ENST00000693398.1:c.2059A>T (ATP7A)	ENSP00000510089.1:p.Met687Leu
ENST00000341514.11:c.2059A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Met687Leu
ENST00000644362.1:c.-19-98306A>T (PGK1)	ENSP00000496140.1:n.-19-98306A>T
ENST00000645094.1:c.*1973A>T (ATP7A)	ENSP00000493605.1:n.*1973A>T
ENST00000341514.10:c.2059A>T (ATP7A)	ENSP00000345728.6:p.Met687Leu
ENST00000343533.9:c.2059A>T (ATP7A)	ENSP00000343026.5:p.Met687Leu
ENST00000350425.5:c.*1232A>T (ATP7A)	ENSP00000343678.5:n.*1232A>T
NM_000052.6:c.2059A>T (ATP7A)	NP_000043.4:p.Met687Leu
NM_001282224.1:c.2059A>T (ATP7A)	NP_001269153.1:p.Met687Leu
NR_104109.1:n.322-19839A>T (ATP7A)
NM_000052.7:c.2059A>T (ATP7A) MANE Select	NP_000043.4:p.Met687Leu
NR_104109.2:n.285-19839A>T (ATP7A)
NM_001282224.2:c.2059A>T (ATP7A)	NP_001269153.1:p.Met687Leu