Canonical Allele Identifier: CA16042048

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 371642
• ClinVar RCV Id: RCV000409978
• dbSNP Id: rs1057517433
• MyVariant Identifiers: chrX:g.18660126A>G (hg19) ; chrX:g.18642006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642006A>G , CM000685.2:g.18642006A>G	GRCh38
NC_000023.10:g.18660126A>G , CM000685.1:g.18660126A>G	GRCh37
NC_000023.9:g.18570047A>G	NCBI36
NG_008475.1:g.221402A>G
NG_008659.3:g.40443T>C , LRG_702:g.40443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.673T>C (RS1) MANE Select	ENSP00000369320.3:p.Ter225Arg
ENST00000379984.3:c.673T>C (RS1)	ENSP00000369320.3:p.Ter225Arg
ENST00000379989.6:c.2714-4001A>G (CDKL5)	ENSP00000369325.3:n.2714-4001A>G
ENST00000379996.7:c.2714-4001A>G (CDKL5)	ENSP00000369332.3:n.2714-4001A>G
ENST00000476595.1:n.1164T>C (RS1)
NM_000330.3:c.673T>C , LRG_702t1:c.673T>C (RS1)	NP_000321.1:p.Ter225Arg
NM_001037343.1:c.2714-4001A>G (CDKL5)	NP_001032420.1:n.2714-4001A>G
NM_003159.2:c.2714-4001A>G (CDKL5)	NP_003150.1:n.2714-4001A>G
XM_011545569.1:c.2786-4001A>G (CDKL5)	XP_011543871.1:n.2786-4001A>G
XM_011545570.1:c.2705-4001A>G (CDKL5)	XP_011543872.1:n.2705-4001A>G
XR_950484.1:n.3089-4001A>G (CDKL5)
NM_000330.4:c.673T>C (RS1) MANE Select	NP_000321.1:p.Ter225Arg
NM_001037343.2:c.2714-4001A>G (CDKL5)	NP_001032420.1:n.2714-4001A>G
NM_003159.3:c.2714-4001A>G (CDKL5)	NP_003150.1:n.2714-4001A>G