Canonical Allele Identifier: CA213360

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18653446G>A , CM000685.2:g.18653446G>A	GRCh38
NC_000023.10:g.18671566G>A , CM000685.1:g.18671566G>A	GRCh37
NC_000023.9:g.18581487G>A	NCBI36
NG_008475.1:g.232842G>A
NG_008659.3:g.29003C>T , LRG_702:g.29003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.184+3207C>T (RS1) MANE Select	ENSP00000369320.3:n.184+3207C>T
ENST00000673617.1:n.267G>A (CDKL5)
ENST00000379984.3:c.184+3207C>T (RS1)	ENSP00000369320.3:n.184+3207C>T
ENST00000379989.6:c.2995G>A (CDKL5)	ENSP00000369325.3:p.Val999Met
ENST00000379996.7:c.2995G>A (CDKL5)	ENSP00000369332.3:p.Val999Met
NM_000330.3:c.184+3207C>T , LRG_702t1:c.184+3207C>T (RS1)	NP_000321.1:n.184+3207C>T
NM_001037343.1:c.2995G>A (CDKL5)	NP_001032420.1:p.Val999Met
NM_003159.2:c.2995G>A (CDKL5)	NP_003150.1:p.Val999Met
XM_011545569.1:c.3067G>A (CDKL5)	XP_011543871.1:p.Val1023Met
XM_011545570.1:c.2986G>A (CDKL5)	XP_011543872.1:p.Val996Met
XR_950484.1:n.3370G>A (CDKL5)
NM_000330.4:c.184+3207C>T (RS1) MANE Select	NP_000321.1:n.184+3207C>T
NM_001037343.2:c.2995G>A (CDKL5)	NP_001032420.1:p.Val999Met
NM_003159.3:c.2995G>A (CDKL5)	NP_003150.1:p.Val999Met