Canonical Allele Identifier: CA121529

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 18450
• ClinVar RCV Id: RCV000012262 ; RCV001035195
• dbSNP Id: rs267606715
• MyVariant Identifiers: chrX:g.18602452G>C (hg19) ; chrX:g.18584332G>C (hg38)
• PubMed: PMID:18809835 ; PMID:19793311 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18584332G>C , CM000685.2:g.18584332G>C	GRCh38
NC_000023.10:g.18602452G>C , CM000685.1:g.18602452G>C	GRCh37
NC_000023.9:g.18512373G>C	NCBI36
NG_008475.1:g.163728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.533G>C MANE Select	ENSP00000485244.1:p.Arg178Pro
ENST00000635828.1:c.533G>C	ENSP00000490170.1:p.Arg178Pro
ENST00000637881.1:c.533G>C	ENSP00000489879.1:p.Arg178Pro
ENST00000674046.1:c.533G>C	ENSP00000501174.1:p.Arg178Pro
ENST00000379989.6:c.533G>C	ENSP00000369325.3:p.Arg178Pro
ENST00000379996.7:c.533G>C	ENSP00000369332.3:p.Arg178Pro
ENST00000463994.4:c.533G>C	ENSP00000485184.1:p.Arg178Pro
ENST00000623535.1:c.533G>C	ENSP00000485244.1:p.Arg178Pro
NM_001037343.1:c.533G>C	NP_001032420.1:p.Arg178Pro
NM_003159.2:c.533G>C	NP_003150.1:p.Arg178Pro
XM_011545569.1:c.533G>C	XP_011543871.1:p.Arg178Pro
XM_011545570.1:c.401G>C	XP_011543872.1:p.Arg134Pro
XR_950484.1:n.785G>C
NM_001323289.1:c.533G>C	NP_001310218.1:p.Arg178Pro
NM_001323289.2:c.533G>C MANE Select	NP_001310218.1:p.Arg178Pro
NM_001037343.2:c.533G>C	NP_001032420.1:p.Arg178Pro
NM_003159.3:c.533G>C	NP_003150.1:p.Arg178Pro