Canonical Allele Identifier: CA199283

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 143823
• ClinVar RCV Id: RCV000169986 ; RCV000133373 ; RCV000169915 ; RCV000544362 ; RCV001260657 ; RCV002345449
• dbSNP Id: rs267608493
• gnomAD v4: X-18584331-C-T
• MyVariant Identifiers: chrX:g.18602451C>T (hg19) ; chrX:g.18584331C>T (hg38)
• PubMed: PMID:19793311 ; PMID:22430159

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18584331C>T , CM000685.2:g.18584331C>T	GRCh38
NC_000023.10:g.18602451C>T , CM000685.1:g.18602451C>T	GRCh37
NC_000023.9:g.18512372C>T	NCBI36
NG_008475.1:g.163727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.532C>T MANE Select	ENSP00000485244.1:p.Arg178Trp
ENST00000635828.1:c.532C>T	ENSP00000490170.1:p.Arg178Trp
ENST00000637881.1:c.532C>T	ENSP00000489879.1:p.Arg178Trp
ENST00000674046.1:c.532C>T	ENSP00000501174.1:p.Arg178Trp
ENST00000379989.6:c.532C>T	ENSP00000369325.3:p.Arg178Trp
ENST00000379996.7:c.532C>T	ENSP00000369332.3:p.Arg178Trp
ENST00000463994.4:c.532C>T	ENSP00000485184.1:p.Arg178Trp
ENST00000623535.1:c.532C>T	ENSP00000485244.1:p.Arg178Trp
NM_001037343.1:c.532C>T	NP_001032420.1:p.Arg178Trp
NM_003159.2:c.532C>T	NP_003150.1:p.Arg178Trp
XM_011545569.1:c.532C>T	XP_011543871.1:p.Arg178Trp
XM_011545570.1:c.400C>T	XP_011543872.1:p.Arg134Trp
XR_950484.1:n.784C>T
NM_001323289.1:c.532C>T	NP_001310218.1:p.Arg178Trp
NM_001323289.2:c.532C>T MANE Select	NP_001310218.1:p.Arg178Trp
NM_001037343.2:c.532C>T	NP_001032420.1:p.Arg178Trp
NM_003159.3:c.532C>T	NP_003150.1:p.Arg178Trp