Canonical Allele Identifier: CA199377

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 189556
• ClinVar RCV Id: RCV000169996 ; RCV003765058
• dbSNP Id: rs786204969
• MyVariant Identifiers: chrX:g.18622419C>T (hg19) ; chrX:g.18604299C>T (hg38)
• PubMed: PMID:22982301

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604299C>T , CM000685.2:g.18604299C>T	GRCh38
NC_000023.10:g.18622419C>T , CM000685.1:g.18622419C>T	GRCh37
NC_000023.9:g.18532340C>T	NCBI36
NG_008475.1:g.183695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1375C>T MANE Select	ENSP00000485244.1:p.Gln459Ter
ENST00000635828.1:c.1375C>T	ENSP00000490170.1:p.Gln459Ter
ENST00000637881.1:c.1375C>T	ENSP00000489879.1:p.Gln459Ter
ENST00000674046.1:c.1375C>T	ENSP00000501174.1:p.Gln459Ter
ENST00000379989.6:c.1375C>T	ENSP00000369325.3:p.Gln459Ter
ENST00000379996.7:c.1375C>T	ENSP00000369332.3:p.Gln459Ter
ENST00000463994.4:c.1375C>T	ENSP00000485184.1:p.Gln459Ter
ENST00000623535.1:c.1375C>T	ENSP00000485244.1:p.Gln459Ter
NM_001037343.1:c.1375C>T	NP_001032420.1:p.Gln459Ter
NM_003159.2:c.1375C>T	NP_003150.1:p.Gln459Ter
XM_011545569.1:c.1324C>T	XP_011543871.1:p.Gln442Ter
XM_011545570.1:c.1243C>T	XP_011543872.1:p.Gln415Ter
XR_950484.1:n.1627C>T
NM_001323289.1:c.1375C>T	NP_001310218.1:p.Gln459Ter
NM_001323289.2:c.1375C>T MANE Select	NP_001310218.1:p.Gln459Ter
NM_001037343.2:c.1375C>T	NP_001032420.1:p.Gln459Ter
NM_003159.3:c.1375C>T	NP_003150.1:p.Gln459Ter