Canonical Allele Identifier: CA199285
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143780
ClinVar RCV Id: RCV000133327 RCV000169916 RCV000170009 RCV001244788
dbSNP Id: rs267608643
COSMIC: COSM1625757
MyVariant Identifiers: chrX:g.18622692C>T (hg19) chrX:g.18604572C>T (hg38)
PubMed: PMID:18063413 PMID:21318334
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604572C>T , CM000685.2:g.18604572C>T GRCh38
NC_000023.10:g.18622692C>T , CM000685.1:g.18622692C>T GRCh37
NC_000023.9:g.18532613C>T NCBI36
NG_008475.1:g.183968C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.1648C>T MANE Select ENSP00000485244.1:p.Arg550Ter
ENST00000635828.1:c.1648C>T ENSP00000490170.1:p.Arg550Ter
ENST00000674046.1:c.1648C>T ENSP00000501174.1:p.Arg550Ter
ENST00000379989.6:c.1648C>T ENSP00000369325.3:p.Arg550Ter
ENST00000379996.7:c.1648C>T ENSP00000369332.3:p.Arg550Ter
ENST00000463994.4:c.1648C>T ENSP00000485184.1:p.Arg550Ter
ENST00000623535.1:c.1648C>T ENSP00000485244.1:p.Arg550Ter
NM_001037343.1:c.1648C>T NP_001032420.1:p.Arg550Ter
NM_003159.2:c.1648C>T NP_003150.1:p.Arg550Ter
XM_011545569.1:c.1597C>T XP_011543871.1:p.Arg533Ter
XM_011545570.1:c.1516C>T XP_011543872.1:p.Arg506Ter
XR_950484.1:n.1900C>T
NM_001323289.1:c.1648C>T NP_001310218.1:p.Arg550Ter
NM_001323289.2:c.1648C>T MANE Select NP_001310218.1:p.Arg550Ter
NM_001037343.2:c.1648C>T NP_001032420.1:p.Arg550Ter
NM_003159.3:c.1648C>T NP_003150.1:p.Arg550Ter
Search 100 bp 5'
Search 100 bp 3'