Canonical Allele Identifier: CA226667

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 9887
• ClinVar RCV Id: RCV000010565 ; RCV000085268 ; RCV000210291
• dbSNP Id: rs61752067
• ExAC: X:18665333 G / A
• gnomAD v2: X-18665333-G-A
• gnomAD v4: X-18647213-G-A
• COSMIC: COSM4978827
• MyVariant Identifiers: chrX:g.18665333G>A (hg19) ; chrX:g.18647213G>A (hg38)
• PubMed: PMID:9326935 ; PMID:26872967

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647213G>A , CM000685.2:g.18647213G>A	GRCh38
NC_000023.10:g.18665333G>A , CM000685.1:g.18665333G>A	GRCh37
NC_000023.9:g.18575254G>A	NCBI36
NG_008475.1:g.226609G>A
NG_008659.3:g.35236C>T , LRG_702:g.35236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.304C>T (RS1) MANE Select	ENSP00000369320.3:p.Arg102Trp
ENST00000379984.3:c.304C>T (RS1)	ENSP00000369320.3:p.Arg102Trp
ENST00000379989.6:c.2797+1123G>A (CDKL5)	ENSP00000369325.3:n.2797+1123G>A
ENST00000379996.7:c.2797+1123G>A (CDKL5)	ENSP00000369332.3:n.2797+1123G>A
ENST00000476595.1:n.795C>T (RS1)
NM_000330.3:c.304C>T , LRG_702t1:c.304C>T (RS1)	NP_000321.1:p.Arg102Trp
NM_001037343.1:c.2797+1123G>A (CDKL5)	NP_001032420.1:n.2797+1123G>A
NM_003159.2:c.2797+1123G>A (CDKL5)	NP_003150.1:n.2797+1123G>A
XM_011545569.1:c.2869+1123G>A (CDKL5)	XP_011543871.1:n.2869+1123G>A
XM_011545570.1:c.2788+1123G>A (CDKL5)	XP_011543872.1:n.2788+1123G>A
XR_950484.1:n.3172+1123G>A (CDKL5)
NM_000330.4:c.304C>T (RS1) MANE Select	NP_000321.1:p.Arg102Trp
NM_001037343.2:c.2797+1123G>A (CDKL5)	NP_001032420.1:n.2797+1123G>A
NM_003159.3:c.2797+1123G>A (CDKL5)	NP_003150.1:n.2797+1123G>A