Canonical Allele Identifier: CA199333

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 189532
• ClinVar RCV Id: RCV000169957
• dbSNP Id: rs786204954
• gnomAD v4: X-18619898-C-A
• COSMIC: COSM6424865
• MyVariant Identifiers: chrX:g.18638018C>A (hg19) ; chrX:g.18619898C>A (hg38)
• PubMed: PMID:23064044

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619898C>A , CM000685.2:g.18619898C>A	GRCh38
NC_000023.10:g.18638018C>A , CM000685.1:g.18638018C>A	GRCh37
NC_000023.9:g.18547939C>A	NCBI36
NG_008475.1:g.199294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2308C>A MANE Select	ENSP00000485244.1:p.Gln770Lys
ENST00000635828.1:c.2308C>A	ENSP00000490170.1:p.Gln770Lys
ENST00000674046.1:c.2308C>A	ENSP00000501174.1:p.Gln770Lys
ENST00000379989.6:c.2308C>A	ENSP00000369325.3:p.Gln770Lys
ENST00000379996.7:c.2308C>A	ENSP00000369332.3:p.Gln770Lys
ENST00000463994.4:c.2308C>A	ENSP00000485184.1:p.Gln770Lys
ENST00000623535.1:c.2308C>A	ENSP00000485244.1:p.Gln770Lys
NM_001037343.1:c.2308C>A	NP_001032420.1:p.Gln770Lys
NM_003159.2:c.2308C>A	NP_003150.1:p.Gln770Lys
XM_011545569.1:c.2257C>A	XP_011543871.1:p.Gln753Lys
XM_011545570.1:c.2176C>A	XP_011543872.1:p.Gln726Lys
XR_950484.1:n.2560C>A
NM_001323289.1:c.2308C>A	NP_001310218.1:p.Gln770Lys
NM_001323289.2:c.2308C>A MANE Select	NP_001310218.1:p.Gln770Lys
NM_001037343.2:c.2308C>A	NP_001032420.1:p.Gln770Lys
NM_003159.3:c.2308C>A	NP_003150.1:p.Gln770Lys