Canonical Allele Identifier: CA413602065

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1557231901
• gnomAD v2: X-77245332-T-C
• gnomAD v4: X-77989836-T-C
• MyVariant Identifiers: chrX:g.77245332T>C (hg19) ; chrX:g.77989836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77989836T>C , CM000685.2:g.77989836T>C	GRCh38
NC_000023.10:g.77245332T>C , CM000685.1:g.77245332T>C	GRCh37
NC_000023.9:g.77131988T>C	NCBI36
NG_013224.2:g.84140T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1244T>C (ATP7A)	ENSP00000343026.6:p.Val415Ala
ENST00000682742.2:n.1376T>C (ATP7A)
ENST00000685208.1:n.1877T>C (ATP7A)
ENST00000685264.1:c.1214T>C (ATP7A)	ENSP00000510136.1:p.Val405Ala
ENST00000685434.1:n.1332T>C (ATP7A)
ENST00000685885.1:c.1250T>C (ATP7A)	ENSP00000510005.1:p.Val417Ala
ENST00000686033.1:c.1214T>C (ATP7A)	ENSP00000510693.1:p.Val405Ala
ENST00000686133.1:c.1214T>C (ATP7A)	ENSP00000509233.1:p.Val405Ala
ENST00000686416.1:n.1568T>C (ATP7A)
ENST00000686480.1:c.1214T>C (ATP7A)	ENSP00000508978.1:p.Val405Ala
ENST00000686515.1:n.1354T>C (ATP7A)
ENST00000686543.1:c.1214T>C (ATP7A)	ENSP00000509477.1:p.Val405Ala
ENST00000686688.1:c.1214T>C (ATP7A)	ENSP00000509416.1:p.Val405Ala
ENST00000686999.1:n.1525T>C (ATP7A)
ENST00000687086.1:c.1214T>C (ATP7A)	ENSP00000509566.1:p.Val405Ala
ENST00000687416.1:c.1214T>C (ATP7A)	ENSP00000510310.1:p.Val405Ala
ENST00000687599.1:c.1214T>C (ATP7A)	ENSP00000508745.1:p.Val405Ala
ENST00000687628.1:n.1315T>C (ATP7A)
ENST00000687984.1:c.1214T>C (ATP7A)	ENSP00000510772.1:p.Val405Ala
ENST00000688249.1:c.1214T>C (ATP7A)	ENSP00000510644.1:p.Val405Ala
ENST00000688338.1:c.1214T>C (ATP7A)	ENSP00000508672.1:p.Val405Ala
ENST00000688746.1:n.1366T>C (ATP7A)
ENST00000688889.1:c.*1128T>C (ATP7A)	ENSP00000508610.1:n.*1128T>C
ENST00000689530.1:c.1214T>C (ATP7A)	ENSP00000509707.1:p.Val405Ala
ENST00000689541.1:n.1523T>C (ATP7A)
ENST00000689649.1:c.1214T>C (ATP7A)	ENSP00000509277.1:p.Val405Ala
ENST00000689767.1:c.1214T>C (ATP7A)	ENSP00000509406.1:p.Val405Ala
ENST00000689872.1:c.1214T>C (ATP7A)	ENSP00000509373.1:p.Val405Ala
ENST00000689891.1:c.1214T>C (ATP7A)	ENSP00000508974.1:p.Val405Ala
ENST00000691152.1:c.1214T>C (ATP7A)	ENSP00000508843.1:p.Val405Ala
ENST00000691456.1:n.1505T>C (ATP7A)
ENST00000692110.1:c.1214T>C (ATP7A)	ENSP00000509366.1:p.Val405Ala
ENST00000692908.1:c.1214T>C (ATP7A)	ENSP00000508627.1:p.Val405Ala
ENST00000693051.1:c.1214T>C (ATP7A)	ENSP00000510332.1:p.Val405Ala
ENST00000693387.1:c.*1143T>C (ATP7A)	ENSP00000508732.1:n.*1143T>C
ENST00000693398.1:c.1214T>C (ATP7A)	ENSP00000510089.1:p.Val405Ala
ENST00000341514.11:c.1214T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Val405Ala
ENST00000644362.1:c.-20+79001T>C (PGK1)	ENSP00000496140.1:n.-20+79001T>C
ENST00000645094.1:c.*1128T>C (ATP7A)	ENSP00000493605.1:n.*1128T>C
ENST00000341514.10:c.1214T>C (ATP7A)	ENSP00000345728.6:p.Val405Ala
ENST00000343533.9:c.1214T>C (ATP7A)	ENSP00000343026.5:p.Val405Ala
ENST00000350425.5:c.*387T>C (ATP7A)	ENSP00000343678.5:n.*387T>C
NM_000052.6:c.1214T>C (ATP7A)	NP_000043.4:p.Val405Ala
NM_001282224.1:c.1214T>C (ATP7A)	NP_001269153.1:p.Val405Ala
NR_104109.1:n.321+18075T>C (ATP7A)
NM_000052.7:c.1214T>C (ATP7A) MANE Select	NP_000043.4:p.Val405Ala
NR_104109.2:n.284+18075T>C (ATP7A)
NM_001282224.2:c.1214T>C (ATP7A)	NP_001269153.1:p.Val405Ala