Canonical Allele Identifier: CA412372642

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 940378
• ClinVar RCV Id: RCV001209952
• dbSNP Id: rs104894934
• MyVariant Identifiers: chrX:g.18665312C>T (hg19) ; chrX:g.18647192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647192C>T , CM000685.2:g.18647192C>T	GRCh38
NC_000023.10:g.18665312C>T , CM000685.1:g.18665312C>T	GRCh37
NC_000023.9:g.18575233C>T	NCBI36
NG_008475.1:g.226588C>T
NG_008659.3:g.35257G>A , LRG_702:g.35257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.325G>A (RS1) MANE Select	ENSP00000369320.3:p.Gly109Arg
ENST00000379984.3:c.325G>A (RS1)	ENSP00000369320.3:p.Gly109Arg
ENST00000379989.6:c.2797+1102C>T (CDKL5)	ENSP00000369325.3:n.2797+1102C>T
ENST00000379996.7:c.2797+1102C>T (CDKL5)	ENSP00000369332.3:n.2797+1102C>T
ENST00000476595.1:n.816G>A (RS1)
NM_000330.3:c.325G>A , LRG_702t1:c.325G>A (RS1)	NP_000321.1:p.Gly109Arg
NM_001037343.1:c.2797+1102C>T (CDKL5)	NP_001032420.1:n.2797+1102C>T
NM_003159.2:c.2797+1102C>T (CDKL5)	NP_003150.1:n.2797+1102C>T
XM_011545569.1:c.2869+1102C>T (CDKL5)	XP_011543871.1:n.2869+1102C>T
XM_011545570.1:c.2788+1102C>T (CDKL5)	XP_011543872.1:n.2788+1102C>T
XR_950484.1:n.3172+1102C>T (CDKL5)
NM_000330.4:c.325G>A (RS1) MANE Select	NP_000321.1:p.Gly109Arg
NM_001037343.2:c.2797+1102C>T (CDKL5)	NP_001032420.1:n.2797+1102C>T
NM_003159.3:c.2797+1102C>T (CDKL5)	NP_003150.1:n.2797+1102C>T