Canonical Allele Identifier: CA205409

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 210412
• ClinVar RCV Id: RCV000192530
• dbSNP Id: rs2234935
• MyVariant Identifiers: chrX:g.77267005T>C (hg19) ; chrX:g.78011508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011508T>C , CM000685.2:g.78011508T>C	GRCh38
NC_000023.10:g.77267005T>C , CM000685.1:g.77267005T>C	GRCh37
NC_000023.9:g.77153661T>C	NCBI36
NG_013224.2:g.105812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2036T>C (ATP7A)	ENSP00000343026.6:p.Ile679Thr
ENST00000682475.1:n.657T>C (ATP7A)
ENST00000685264.1:c.2006T>C (ATP7A)	ENSP00000510136.1:p.Ile669Thr
ENST00000686033.1:c.2006T>C (ATP7A)	ENSP00000510693.1:p.Ile669Thr
ENST00000686133.1:c.2006T>C (ATP7A)	ENSP00000509233.1:p.Ile669Thr
ENST00000686255.1:n.1037T>C (ATP7A)
ENST00000686480.1:c.2006T>C (ATP7A)	ENSP00000508978.1:p.Ile669Thr
ENST00000686515.1:n.2146T>C (ATP7A)
ENST00000686543.1:c.2006T>C (ATP7A)	ENSP00000509477.1:p.Ile669Thr
ENST00000686688.1:c.2006T>C (ATP7A)	ENSP00000509416.1:p.Ile669Thr
ENST00000686999.1:n.2317T>C (ATP7A)
ENST00000687086.1:c.2006T>C (ATP7A)	ENSP00000509566.1:p.Ile669Thr
ENST00000687628.1:n.4215T>C (ATP7A)
ENST00000688746.1:n.2158T>C (ATP7A)
ENST00000689514.1:n.48T>C (ATP7A)
ENST00000689530.1:c.2006T>C (ATP7A)	ENSP00000509707.1:p.Ile669Thr
ENST00000689649.1:c.2006T>C (ATP7A)	ENSP00000509277.1:p.Ile669Thr
ENST00000689767.1:c.2099T>C (ATP7A)	ENSP00000509406.1:p.Ile700Thr
ENST00000689872.1:c.1929T>C (ATP7A)	ENSP00000509373.1:p.Asp643=
ENST00000692110.1:c.1922T>C (ATP7A)	ENSP00000509366.1:p.Ile641Thr
ENST00000692908.1:c.2006T>C (ATP7A)	ENSP00000508627.1:p.Ile669Thr
ENST00000693398.1:c.2006T>C (ATP7A)	ENSP00000510089.1:p.Ile669Thr
ENST00000341514.11:c.2006T>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ile669Thr
ENST00000644362.1:c.-19-98359T>C (PGK1)	ENSP00000496140.1:n.-19-98359T>C
ENST00000645094.1:c.*1920T>C (ATP7A)	ENSP00000493605.1:n.*1920T>C
ENST00000341514.10:c.2006T>C (ATP7A)	ENSP00000345728.6:p.Ile669Thr
ENST00000343533.9:c.2006T>C (ATP7A)	ENSP00000343026.5:p.Ile669Thr
ENST00000350425.5:c.*1179T>C (ATP7A)	ENSP00000343678.5:n.*1179T>C
NM_000052.6:c.2006T>C (ATP7A)	NP_000043.4:p.Ile669Thr
NM_001282224.1:c.2006T>C (ATP7A)	NP_001269153.1:p.Ile669Thr
NR_104109.1:n.322-19892T>C (ATP7A)
NM_000052.7:c.2006T>C (ATP7A) MANE Select	NP_000043.4:p.Ile669Thr
NR_104109.2:n.285-19892T>C (ATP7A)
NM_001282224.2:c.2006T>C (ATP7A)	NP_001269153.1:p.Ile669Thr