Canonical Allele Identifier: CA199342

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18650540G>A , CM000685.2:g.18650540G>A	GRCh38
NC_000023.10:g.18668660G>A , CM000685.1:g.18668660G>A	GRCh37
NC_000023.9:g.18578581G>A	NCBI36
NG_008475.1:g.229936G>A
NG_008659.3:g.31909C>T , LRG_702:g.31909C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000330.4:c.185-3208C>T (RS1) MANE Select	NP_000321.1:n.185-3208C>T
ENST00000379984.4:c.185-3208C>T (RS1) MANE Select	ENSP00000369320.3:n.185-3208C>T
NM_000330.3:c.185-3208C>T , LRG_702t1:c.185-3208C>T (RS1)	NP_000321.1:n.185-3208C>T
NM_001037343.1:c.2928G>A (CDKL5)	NP_001032420.1:p.Pro976=
NM_001037343.2:c.2928G>A (CDKL5)	NP_001032420.1:p.Pro976=
NM_003159.2:c.2928G>A (CDKL5)	NP_003150.1:p.Pro976=
NM_003159.3:c.2928G>A (CDKL5)	NP_003150.1:p.Pro976=
ENST00000379984.3:c.185-3208C>T (RS1)	ENSP00000369320.3:n.185-3208C>T
ENST00000379989.6:c.2928G>A (CDKL5)	ENSP00000369325.3:p.Pro976=
ENST00000379996.7:c.2928G>A (CDKL5)	ENSP00000369332.3:p.Pro976=
ENST00000673617.1:n.200G>A (CDKL5)
XM_011545569.1:c.3000G>A (CDKL5)	XP_011543871.1:p.Pro1000=
XM_011545570.1:c.2919G>A (CDKL5)	XP_011543872.1:p.Pro973=
XR_950484.1:n.3303G>A (CDKL5)