Canonical Allele Identifier: CA413603979

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77289167G>C (hg19) ; chrX:g.78033669G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033669G>C , CM000685.2:g.78033669G>C	GRCh38
NC_000023.10:g.77289167G>C , CM000685.1:g.77289167G>C	GRCh37
NC_000023.9:g.77175823G>C	NCBI36
NG_013224.2:g.127973G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.3389G>C (ATP7A)	ENSP00000343026.6:p.Ser1130Thr
ENST00000682475.1:n.1776G>C (ATP7A)
ENST00000685033.1:c.623G>C (ATP7A)	ENSP00000509269.1:p.Ser208Thr
ENST00000685264.1:c.3359G>C (ATP7A)	ENSP00000510136.1:p.Ser1120Thr
ENST00000686033.1:c.3164G>C (ATP7A)	ENSP00000510693.1:p.Ser1055Thr
ENST00000686133.1:c.3359G>C (ATP7A)	ENSP00000509233.1:p.Ser1120Thr
ENST00000686255.1:n.2390G>C (ATP7A)
ENST00000686543.1:c.3125G>C (ATP7A)	ENSP00000509477.1:p.Ser1042Thr
ENST00000687086.1:c.3359G>C (ATP7A)	ENSP00000509566.1:p.Ser1120Thr
ENST00000689514.1:n.1401G>C (ATP7A)
ENST00000689767.1:c.3452G>C (ATP7A)	ENSP00000509406.1:p.Ser1151Thr
ENST00000692908.1:c.3125G>C (ATP7A)	ENSP00000508627.1:p.Ser1042Thr
ENST00000341514.11:c.3359G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1120Thr
ENST00000644362.1:c.-19-76198G>C (PGK1)	ENSP00000496140.1:n.-19-76198G>C
ENST00000645094.1:c.*3273G>C (ATP7A)	ENSP00000493605.1:n.*3273G>C
ENST00000341514.10:c.3359G>C (ATP7A)	ENSP00000345728.6:p.Ser1120Thr
ENST00000343533.9:c.3125G>C (ATP7A)	ENSP00000343026.5:p.Ser1042Thr
ENST00000350425.5:c.*2532G>C (ATP7A)	ENSP00000343678.5:n.*2532G>C
NM_000052.6:c.3359G>C (ATP7A)	NP_000043.4:p.Ser1120Thr
NM_001282224.1:c.3125G>C (ATP7A)	NP_001269153.1:p.Ser1042Thr
NR_104109.1:n.569G>C (ATP7A)
NM_000052.7:c.3359G>C (ATP7A) MANE Select	NP_000043.4:p.Ser1120Thr
NR_104109.2:n.532G>C (ATP7A)
NM_001282224.2:c.3125G>C (ATP7A)	NP_001269153.1:p.Ser1042Thr