Canonical Allele Identifier: CA199370

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 189549
• ClinVar RCV Id: RCV000169988 ; RCV000622992
• dbSNP Id: rs786204963
• MyVariant Identifiers: chrX:g.18606175A>C (hg19) ; chrX:g.18588055A>C (hg38)
• PubMed: PMID:15492925 ; PMID:18266744 ; PMID:19241098 ; PMID:19471977 ; PMID:19793311 ; PMID:21775177 ; PMID:22670135 ; PMID:22678952 ; PMID:22779007 ; PMID:22872100 ; PMID:23151060 ; PMID:23583054 ; PMID:24564546 ; PMID:24916645 ; PMID:25266480 ; PMID:26708753 ; PMID:27528505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18588055A>C , CM000685.2:g.18588055A>C	GRCh38
NC_000023.10:g.18606175A>C , CM000685.1:g.18606175A>C	GRCh37
NC_000023.9:g.18516096A>C	NCBI36
NG_008475.1:g.167451A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.656A>C MANE Select	ENSP00000485244.1:p.Gln219Pro
ENST00000635828.1:c.656A>C	ENSP00000490170.1:p.Gln219Pro
ENST00000637881.1:c.656A>C	ENSP00000489879.1:p.Gln219Pro
ENST00000674046.1:c.656A>C	ENSP00000501174.1:p.Gln219Pro
ENST00000379989.6:c.656A>C	ENSP00000369325.3:p.Gln219Pro
ENST00000379996.7:c.656A>C	ENSP00000369332.3:p.Gln219Pro
ENST00000463994.4:c.656A>C	ENSP00000485184.1:p.Gln219Pro
ENST00000623535.1:c.656A>C	ENSP00000485244.1:p.Gln219Pro
ENST00000623610.1:n.370A>C
NM_001037343.1:c.656A>C	NP_001032420.1:p.Gln219Pro
NM_003159.2:c.656A>C	NP_003150.1:p.Gln219Pro
XM_011545569.1:c.656A>C	XP_011543871.1:p.Gln219Pro
XM_011545570.1:c.524A>C	XP_011543872.1:p.Gln175Pro
XR_950484.1:n.908A>C
NM_001323289.1:c.656A>C	NP_001310218.1:p.Gln219Pro
NM_001323289.2:c.656A>C MANE Select	NP_001310218.1:p.Gln219Pro
NM_001037343.2:c.656A>C	NP_001032420.1:p.Gln219Pro
NM_003159.3:c.656A>C	NP_003150.1:p.Gln219Pro