Canonical Allele Identifier: CA199285

Gene: CDKL5

Linked Data

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

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