Canonical Allele Identifier: CA10459417

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 465118
• ClinVar RCV Id: RCV000550411 ; RCV001547294 ; RCV001834780
• dbSNP Id: rs138154934
• ExAC: X:77289283 A / G
• gnomAD v2: X-77289283-A-G
• gnomAD v3: X-78033785-A-G
• gnomAD v4: X-78033785-A-G
• MyVariant Identifiers: chrX:g.77289283A>G (hg19) ; chrX:g.78033785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033785A>G , CM000685.2:g.78033785A>G	GRCh38
NC_000023.10:g.77289283A>G , CM000685.1:g.77289283A>G	GRCh37
NC_000023.9:g.77175939A>G	NCBI36
NG_013224.2:g.128089A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3505A>G (ATP7A)	ENSP00000343026.6:p.Thr1169Ala
ENST00000682475.1:n.1892A>G (ATP7A)
ENST00000685033.1:c.739A>G (ATP7A)	ENSP00000509269.1:p.Thr247Ala
ENST00000685264.1:c.3475A>G (ATP7A)	ENSP00000510136.1:p.Thr1159Ala
ENST00000686033.1:c.3280A>G (ATP7A)	ENSP00000510693.1:p.Thr1094Ala
ENST00000686133.1:c.3475A>G (ATP7A)	ENSP00000509233.1:p.Thr1159Ala
ENST00000686255.1:n.2506A>G (ATP7A)
ENST00000686543.1:c.3241A>G (ATP7A)	ENSP00000509477.1:p.Thr1081Ala
ENST00000687086.1:c.3475A>G (ATP7A)	ENSP00000509566.1:p.Thr1159Ala
ENST00000689514.1:n.1517A>G (ATP7A)
ENST00000689767.1:c.3568A>G (ATP7A)	ENSP00000509406.1:p.Thr1190Ala
ENST00000692908.1:c.3241A>G (ATP7A)	ENSP00000508627.1:p.Thr1081Ala
ENST00000341514.11:c.3475A>G (ATP7A) MANE Select	ENSP00000345728.6:p.Thr1159Ala
ENST00000644362.1:c.-19-76082A>G (PGK1)	ENSP00000496140.1:n.-19-76082A>G
ENST00000645094.1:c.*3389A>G (ATP7A)	ENSP00000493605.1:n.*3389A>G
ENST00000341514.10:c.3475A>G (ATP7A)	ENSP00000345728.6:p.Thr1159Ala
ENST00000343533.9:c.3241A>G (ATP7A)	ENSP00000343026.5:p.Thr1081Ala
ENST00000350425.5:c.*2648A>G (ATP7A)	ENSP00000343678.5:n.*2648A>G
NM_000052.6:c.3475A>G (ATP7A)	NP_000043.4:p.Thr1159Ala
NM_001282224.1:c.3241A>G (ATP7A)	NP_001269153.1:p.Thr1081Ala
NR_104109.1:n.685A>G (ATP7A)
NM_000052.7:c.3475A>G (ATP7A) MANE Select	NP_000043.4:p.Thr1159Ala
NR_104109.2:n.648A>G (ATP7A)
NM_001282224.2:c.3241A>G (ATP7A)	NP_001269153.1:p.Thr1081Ala