Canonical Allele Identifier: CA226730

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 98960
• ClinVar RCV Id: RCV000085301 ; RCV000411096
• dbSNP Id: rs61752159
• MyVariant Identifiers: chrX:g.18662650C>T (hg19) ; chrX:g.18644530C>T (hg38)
• PubMed: PMID:9618178 ; PMID:10636429 ; PMID:16361673 ; PMID:17525175 ; PMID:17631851 ; PMID:18690710 ; PMID:18834580 ; PMID:19093009 ; PMID:20061330

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644530C>T , CM000685.2:g.18644530C>T	GRCh38
NC_000023.10:g.18662650C>T , CM000685.1:g.18662650C>T	GRCh37
NC_000023.9:g.18572571C>T	NCBI36
NG_008475.1:g.223926C>T
NG_008659.3:g.37919G>A , LRG_702:g.37919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.422G>A (RS1) MANE Select	ENSP00000369320.3:p.Arg141His
ENST00000379984.3:c.422G>A (RS1)	ENSP00000369320.3:p.Arg141His
ENST00000379989.6:c.2714-1477C>T (CDKL5)	ENSP00000369325.3:n.2714-1477C>T
ENST00000379996.7:c.2714-1477C>T (CDKL5)	ENSP00000369332.3:n.2714-1477C>T
ENST00000476595.1:n.913G>A (RS1)
NM_000330.3:c.422G>A , LRG_702t1:c.422G>A (RS1)	NP_000321.1:p.Arg141His
NM_001037343.1:c.2714-1477C>T (CDKL5)	NP_001032420.1:n.2714-1477C>T
NM_003159.2:c.2714-1477C>T (CDKL5)	NP_003150.1:n.2714-1477C>T
XM_011545569.1:c.2786-1477C>T (CDKL5)	XP_011543871.1:n.2786-1477C>T
XM_011545570.1:c.2705-1477C>T (CDKL5)	XP_011543872.1:n.2705-1477C>T
XR_950484.1:n.3089-1477C>T (CDKL5)
NM_000330.4:c.422G>A (RS1) MANE Select	NP_000321.1:p.Arg141His
NM_001037343.2:c.2714-1477C>T (CDKL5)	NP_001032420.1:n.2714-1477C>T
NM_003159.3:c.2714-1477C>T (CDKL5)	NP_003150.1:n.2714-1477C>T