Canonical Allele Identifier: CA226626

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 9889
• ClinVar RCV Id: RCV000010567 ; RCV000085251
• dbSNP Id: rs104894932
• MyVariant Identifiers: chrX:g.18665421C>G (hg19) ; chrX:g.18647301C>G (hg38)
• PubMed: PMID:9618178

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647301C>G , CM000685.2:g.18647301C>G	GRCh38
NC_000023.10:g.18665421C>G , CM000685.1:g.18665421C>G	GRCh37
NC_000023.9:g.18575342C>G	NCBI36
NG_008475.1:g.226697C>G
NG_008659.3:g.35148G>C , LRG_702:g.35148G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.216G>C (RS1) MANE Select	ENSP00000369320.3:p.Glu72Asp
ENST00000379984.3:c.216G>C (RS1)	ENSP00000369320.3:p.Glu72Asp
ENST00000379989.6:c.2797+1211C>G (CDKL5)	ENSP00000369325.3:n.2797+1211C>G
ENST00000379996.7:c.2797+1211C>G (CDKL5)	ENSP00000369332.3:n.2797+1211C>G
ENST00000476595.1:n.707G>C (RS1)
NM_000330.3:c.216G>C , LRG_702t1:c.216G>C (RS1)	NP_000321.1:p.Glu72Asp
NM_001037343.1:c.2797+1211C>G (CDKL5)	NP_001032420.1:n.2797+1211C>G
NM_003159.2:c.2797+1211C>G (CDKL5)	NP_003150.1:n.2797+1211C>G
XM_011545569.1:c.2869+1211C>G (CDKL5)	XP_011543871.1:n.2869+1211C>G
XM_011545570.1:c.2788+1211C>G (CDKL5)	XP_011543872.1:n.2788+1211C>G
XR_950484.1:n.3172+1211C>G (CDKL5)
NM_000330.4:c.216G>C (RS1) MANE Select	NP_000321.1:p.Glu72Asp
NM_001037343.2:c.2797+1211C>G (CDKL5)	NP_001032420.1:n.2797+1211C>G
NM_003159.3:c.2797+1211C>G (CDKL5)	NP_003150.1:n.2797+1211C>G