Canonical Allele Identifier: CA16043201

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 372496
• ClinVar RCV Id: RCV000412918 ; RCV001074417 ; RCV000984306 ; RCV003392227
• dbSNP Id: rs62645894
• MyVariant Identifiers: chrX:g.18665429C>T (hg19) ; chrX:g.18647309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647309C>T , CM000685.2:g.18647309C>T	GRCh38
NC_000023.10:g.18665429C>T , CM000685.1:g.18665429C>T	GRCh37
NC_000023.9:g.18575350C>T	NCBI36
NG_008475.1:g.226705C>T
NG_008659.3:g.35140G>A , LRG_702:g.35140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.208G>A (RS1) MANE Select	ENSP00000369320.3:p.Gly70Ser
ENST00000379984.3:c.208G>A (RS1)	ENSP00000369320.3:p.Gly70Ser
ENST00000379989.6:c.2797+1219C>T (CDKL5)	ENSP00000369325.3:n.2797+1219C>T
ENST00000379996.7:c.2797+1219C>T (CDKL5)	ENSP00000369332.3:n.2797+1219C>T
ENST00000476595.1:n.699G>A (RS1)
NM_000330.3:c.208G>A , LRG_702t1:c.208G>A (RS1)	NP_000321.1:p.Gly70Ser
NM_001037343.1:c.2797+1219C>T (CDKL5)	NP_001032420.1:n.2797+1219C>T
NM_003159.2:c.2797+1219C>T (CDKL5)	NP_003150.1:n.2797+1219C>T
XM_011545569.1:c.2869+1219C>T (CDKL5)	XP_011543871.1:n.2869+1219C>T
XM_011545570.1:c.2788+1219C>T (CDKL5)	XP_011543872.1:n.2788+1219C>T
XR_950484.1:n.3172+1219C>T (CDKL5)
NM_000330.4:c.208G>A (RS1) MANE Select	NP_000321.1:p.Gly70Ser
NM_001037343.2:c.2797+1219C>T (CDKL5)	NP_001032420.1:n.2797+1219C>T
NM_003159.3:c.2797+1219C>T (CDKL5)	NP_003150.1:n.2797+1219C>T