Canonical Allele Identifier: CA10360599

Gene: RS1 CDKL5

Linked Data

• dbSNP Id: rs745526075
• ExAC: X:18660177 C / T
• gnomAD v4: X-18642057-C-T
• COSMIC: COSM3973519
• MyVariant Identifiers: chrX:g.18660177C>T (hg19) ; chrX:g.18642057C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642057C>T , CM000685.2:g.18642057C>T	GRCh38
NC_000023.10:g.18660177C>T , CM000685.1:g.18660177C>T	GRCh37
NC_000023.9:g.18570098C>T	NCBI36
NG_008475.1:g.221453C>T
NG_008659.3:g.40392G>A , LRG_702:g.40392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.622G>A (RS1) MANE Select	ENSP00000369320.3:p.Val208Ile
ENST00000379984.3:c.622G>A (RS1)	ENSP00000369320.3:p.Val208Ile
ENST00000379989.6:c.2714-3950C>T (CDKL5)	ENSP00000369325.3:n.2714-3950C>T
ENST00000379996.7:c.2714-3950C>T (CDKL5)	ENSP00000369332.3:n.2714-3950C>T
ENST00000476595.1:n.1113G>A (RS1)
NM_000330.3:c.622G>A , LRG_702t1:c.622G>A (RS1)	NP_000321.1:p.Val208Ile
NM_001037343.1:c.2714-3950C>T (CDKL5)	NP_001032420.1:n.2714-3950C>T
NM_003159.2:c.2714-3950C>T (CDKL5)	NP_003150.1:n.2714-3950C>T
XM_011545569.1:c.2786-3950C>T (CDKL5)	XP_011543871.1:n.2786-3950C>T
XM_011545570.1:c.2705-3950C>T (CDKL5)	XP_011543872.1:n.2705-3950C>T
XR_950484.1:n.3089-3950C>T (CDKL5)
NM_000330.4:c.622G>A (RS1) MANE Select	NP_000321.1:p.Val208Ile
NM_001037343.2:c.2714-3950C>T (CDKL5)	NP_001032420.1:n.2714-3950C>T
NM_003159.3:c.2714-3950C>T (CDKL5)	NP_003150.1:n.2714-3950C>T