Canonical Allele Identifier: CA226839

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 99014
• ClinVar RCV Id: RCV000085356 ; RCV001075517
• dbSNP Id: rs281865368
• MyVariant Identifiers: chrX:g.18660152A>G (hg19) ; chrX:g.18642032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642032A>G , CM000685.2:g.18642032A>G	GRCh38
NC_000023.10:g.18660152A>G , CM000685.1:g.18660152A>G	GRCh37
NC_000023.9:g.18570073A>G	NCBI36
NG_008475.1:g.221428A>G
NG_008659.3:g.40417T>C , LRG_702:g.40417T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.647T>C (RS1) MANE Select	ENSP00000369320.3:p.Leu216Pro
ENST00000379984.3:c.647T>C (RS1)	ENSP00000369320.3:p.Leu216Pro
ENST00000379989.6:c.2714-3975A>G (CDKL5)	ENSP00000369325.3:n.2714-3975A>G
ENST00000379996.7:c.2714-3975A>G (CDKL5)	ENSP00000369332.3:n.2714-3975A>G
ENST00000476595.1:n.1138T>C (RS1)
NM_000330.3:c.647T>C , LRG_702t1:c.647T>C (RS1)	NP_000321.1:p.Leu216Pro
NM_001037343.1:c.2714-3975A>G (CDKL5)	NP_001032420.1:n.2714-3975A>G
NM_003159.2:c.2714-3975A>G (CDKL5)	NP_003150.1:n.2714-3975A>G
XM_011545569.1:c.2786-3975A>G (CDKL5)	XP_011543871.1:n.2786-3975A>G
XM_011545570.1:c.2705-3975A>G (CDKL5)	XP_011543872.1:n.2705-3975A>G
XR_950484.1:n.3089-3975A>G (CDKL5)
NM_000330.4:c.647T>C (RS1) MANE Select	NP_000321.1:p.Leu216Pro
NM_001037343.2:c.2714-3975A>G (CDKL5)	NP_001032420.1:n.2714-3975A>G
NM_003159.3:c.2714-3975A>G (CDKL5)	NP_003150.1:n.2714-3975A>G