Canonical Allele Identifier: CA413597898

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1603385258
• gnomAD v4: X-78011177-G-C
• MyVariant Identifiers: chrX:g.77266674G>C (hg19) ; chrX:g.78011177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011177G>C , CM000685.2:g.78011177G>C	GRCh38
NC_000023.10:g.77266674G>C , CM000685.1:g.77266674G>C	GRCh37
NC_000023.9:g.77153330G>C	NCBI36
NG_013224.2:g.105481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1901G>C (ATP7A)	ENSP00000343026.6:p.Ser634Thr
ENST00000682475.1:n.326G>C (ATP7A)
ENST00000685264.1:c.1871G>C (ATP7A)	ENSP00000510136.1:p.Ser624Thr
ENST00000686033.1:c.1871G>C (ATP7A)	ENSP00000510693.1:p.Ser624Thr
ENST00000686133.1:c.1871G>C (ATP7A)	ENSP00000509233.1:p.Ser624Thr
ENST00000686255.1:n.706G>C (ATP7A)
ENST00000686480.1:c.1871G>C (ATP7A)	ENSP00000508978.1:p.Ser624Thr
ENST00000686515.1:n.2011G>C (ATP7A)
ENST00000686543.1:c.1871G>C (ATP7A)	ENSP00000509477.1:p.Ser624Thr
ENST00000686688.1:c.1871G>C (ATP7A)	ENSP00000509416.1:p.Ser624Thr
ENST00000686999.1:n.2182G>C (ATP7A)
ENST00000687086.1:c.1871G>C (ATP7A)	ENSP00000509566.1:p.Ser624Thr
ENST00000687628.1:n.3884G>C (ATP7A)
ENST00000688746.1:n.2023G>C (ATP7A)
ENST00000689530.1:c.1871G>C (ATP7A)	ENSP00000509707.1:p.Ser624Thr
ENST00000689649.1:c.1871G>C (ATP7A)	ENSP00000509277.1:p.Ser624Thr
ENST00000689767.1:c.1964G>C (ATP7A)	ENSP00000509406.1:p.Ser655Thr
ENST00000689872.1:c.1870-272G>C (ATP7A)	ENSP00000509373.1:n.1870-272G>C
ENST00000692110.1:c.1787G>C (ATP7A)	ENSP00000509366.1:p.Ser596Thr
ENST00000692908.1:c.1871G>C (ATP7A)	ENSP00000508627.1:p.Ser624Thr
ENST00000693398.1:c.1871G>C (ATP7A)	ENSP00000510089.1:p.Ser624Thr
ENST00000341514.11:c.1871G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ser624Thr
ENST00000644362.1:c.-19-98690G>C (PGK1)	ENSP00000496140.1:n.-19-98690G>C
ENST00000645094.1:c.*1785G>C (ATP7A)	ENSP00000493605.1:n.*1785G>C
ENST00000341514.10:c.1871G>C (ATP7A)	ENSP00000345728.6:p.Ser624Thr
ENST00000343533.9:c.1871G>C (ATP7A)	ENSP00000343026.5:p.Ser624Thr
ENST00000350425.5:c.*1044G>C (ATP7A)	ENSP00000343678.5:n.*1044G>C
NM_000052.6:c.1871G>C (ATP7A)	NP_000043.4:p.Ser624Thr
NM_001282224.1:c.1871G>C (ATP7A)	NP_001269153.1:p.Ser624Thr
NR_104109.1:n.322-20223G>C (ATP7A)
NM_000052.7:c.1871G>C (ATP7A) MANE Select	NP_000043.4:p.Ser624Thr
NR_104109.2:n.285-20223G>C (ATP7A)
NM_001282224.2:c.1871G>C (ATP7A)	NP_001269153.1:p.Ser624Thr