Canonical Allele Identifier: CA412372774

Gene: RS1 CDKL5

Linked Data

• MyVariant Identifiers: chrX:g.18665351A>T (hg19) ; chrX:g.18647231A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647231A>T , CM000685.2:g.18647231A>T	GRCh38
NC_000023.10:g.18665351A>T , CM000685.1:g.18665351A>T	GRCh37
NC_000023.9:g.18575272A>T	NCBI36
NG_008475.1:g.226627A>T
NG_008659.3:g.35218T>A , LRG_702:g.35218T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.286T>A (RS1) MANE Select	ENSP00000369320.3:p.Trp96Arg
ENST00000379984.3:c.286T>A (RS1)	ENSP00000369320.3:p.Trp96Arg
ENST00000379989.6:c.2797+1141A>T (CDKL5)	ENSP00000369325.3:n.2797+1141A>T
ENST00000379996.7:c.2797+1141A>T (CDKL5)	ENSP00000369332.3:n.2797+1141A>T
ENST00000476595.1:n.777T>A (RS1)
NM_000330.3:c.286T>A , LRG_702t1:c.286T>A (RS1)	NP_000321.1:p.Trp96Arg
NM_001037343.1:c.2797+1141A>T (CDKL5)	NP_001032420.1:n.2797+1141A>T
NM_003159.2:c.2797+1141A>T (CDKL5)	NP_003150.1:n.2797+1141A>T
XM_011545569.1:c.2869+1141A>T (CDKL5)	XP_011543871.1:n.2869+1141A>T
XM_011545570.1:c.2788+1141A>T (CDKL5)	XP_011543872.1:n.2788+1141A>T
XR_950484.1:n.3172+1141A>T (CDKL5)
NM_000330.4:c.286T>A (RS1) MANE Select	NP_000321.1:p.Trp96Arg
NM_001037343.2:c.2797+1141A>T (CDKL5)	NP_001032420.1:n.2797+1141A>T
NM_003159.3:c.2797+1141A>T (CDKL5)	NP_003150.1:n.2797+1141A>T