Canonical Allele Identifier: CA226771

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 98982
• ClinVar RCV Id: RCV000085323 ; RCV001003216
• dbSNP Id: rs281865349
• MyVariant Identifiers: chrX:g.18660278T>C (hg19) ; chrX:g.18642158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642158T>C , CM000685.2:g.18642158T>C	GRCh38
NC_000023.10:g.18660278T>C , CM000685.1:g.18660278T>C	GRCh37
NC_000023.9:g.18570199T>C	NCBI36
NG_008475.1:g.221554T>C
NG_008659.3:g.40291A>G , LRG_702:g.40291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.523-2A>G (RS1) MANE Select	ENSP00000369320.3:n.523-2A>G
ENST00000379984.3:c.523-2A>G (RS1)	ENSP00000369320.3:n.523-2A>G
ENST00000379989.6:c.2714-3849T>C (CDKL5)	ENSP00000369325.3:n.2714-3849T>C
ENST00000379996.7:c.2714-3849T>C (CDKL5)	ENSP00000369332.3:n.2714-3849T>C
ENST00000476595.1:n.1014-2A>G (RS1)
NM_000330.3:c.523-2A>G , LRG_702t1:c.523-2A>G (RS1)	NP_000321.1:n.523-2A>G
NM_001037343.1:c.2714-3849T>C (CDKL5)	NP_001032420.1:n.2714-3849T>C
NM_003159.2:c.2714-3849T>C (CDKL5)	NP_003150.1:n.2714-3849T>C
XM_011545569.1:c.2786-3849T>C (CDKL5)	XP_011543871.1:n.2786-3849T>C
XM_011545570.1:c.2705-3849T>C (CDKL5)	XP_011543872.1:n.2705-3849T>C
XR_950484.1:n.3089-3849T>C (CDKL5)
NM_000330.4:c.523-2A>G (RS1) MANE Select	NP_000321.1:n.523-2A>G
NM_001037343.2:c.2714-3849T>C (CDKL5)	NP_001032420.1:n.2714-3849T>C
NM_003159.3:c.2714-3849T>C (CDKL5)	NP_003150.1:n.2714-3849T>C