Canonical Allele Identifier: CA226787

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 98990
• ClinVar RCV Id: RCV000085331 ; RCV000169568 ; RCV001075730
• dbSNP Id: rs61753174
• gnomAD v4: X-18642105-G-A
• MyVariant Identifiers: chrX:g.18660225G>A (hg19) ; chrX:g.18642105G>A (hg38)
• PubMed: PMID:9326935 ; PMID:9618178 ; PMID:10533068 ; PMID:10636421 ; PMID:10922205 ; PMID:10947001 ; PMID:15937075 ; PMID:17515881 ; PMID:17987333 ; PMID:19093009 ; PMID:20061330 ; PMID:20809529 ; PMID:23453514 ; PMID:23514609

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642105G>A , CM000685.2:g.18642105G>A	GRCh38
NC_000023.10:g.18660225G>A , CM000685.1:g.18660225G>A	GRCh37
NC_000023.9:g.18570146G>A	NCBI36
NG_008475.1:g.221501G>A
NG_008659.3:g.40344C>T , LRG_702:g.40344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.574C>T (RS1) MANE Select	ENSP00000369320.3:p.Pro192Ser
ENST00000379984.3:c.574C>T (RS1)	ENSP00000369320.3:p.Pro192Ser
ENST00000379989.6:c.2714-3902G>A (CDKL5)	ENSP00000369325.3:n.2714-3902G>A
ENST00000379996.7:c.2714-3902G>A (CDKL5)	ENSP00000369332.3:n.2714-3902G>A
ENST00000476595.1:n.1065C>T (RS1)
NM_000330.3:c.574C>T , LRG_702t1:c.574C>T (RS1)	NP_000321.1:p.Pro192Ser
NM_001037343.1:c.2714-3902G>A (CDKL5)	NP_001032420.1:n.2714-3902G>A
NM_003159.2:c.2714-3902G>A (CDKL5)	NP_003150.1:n.2714-3902G>A
XM_011545569.1:c.2786-3902G>A (CDKL5)	XP_011543871.1:n.2786-3902G>A
XM_011545570.1:c.2705-3902G>A (CDKL5)	XP_011543872.1:n.2705-3902G>A
XR_950484.1:n.3089-3902G>A (CDKL5)
NM_000330.4:c.574C>T (RS1) MANE Select	NP_000321.1:p.Pro192Ser
NM_001037343.2:c.2714-3902G>A (CDKL5)	NP_001032420.1:n.2714-3902G>A
NM_003159.3:c.2714-3902G>A (CDKL5)	NP_003150.1:n.2714-3902G>A