Canonical Allele Identifier: CA213376

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 136713
• ClinVar RCV Id: RCV000145529 ; RCV000459993 ; RCV000715071 ; RCV001579284
• dbSNP Id: rs35478150
• ExAC: X:18638082 A / C
• gnomAD v2: X-18638082-A-C
• gnomAD v3: X-18619962-A-C
• gnomAD v4: X-18619962-A-C
• MyVariant Identifiers: chrX:g.18638082A>C (hg19) ; chrX:g.18619962A>C (hg38)
• PubMed: PMID:15499549 ; PMID:19241098 ; PMID:19564592 ; PMID:20397747 ; PMID:20479760 ; PMID:21160487

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619962A>C , CM000685.2:g.18619962A>C	GRCh38
NC_000023.10:g.18638082A>C , CM000685.1:g.18638082A>C	GRCh37
NC_000023.9:g.18548003A>C	NCBI36
NG_008475.1:g.199358A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2372A>C MANE Select	ENSP00000485244.1:p.Gln791Pro
ENST00000635828.1:c.2372A>C	ENSP00000490170.1:p.Gln791Pro
ENST00000674046.1:c.2372A>C	ENSP00000501174.1:p.Gln791Pro
ENST00000379989.6:c.2372A>C	ENSP00000369325.3:p.Gln791Pro
ENST00000379996.7:c.2372A>C	ENSP00000369332.3:p.Gln791Pro
ENST00000623535.1:c.2372A>C	ENSP00000485244.1:p.Gln791Pro
NM_001037343.1:c.2372A>C	NP_001032420.1:p.Gln791Pro
NM_003159.2:c.2372A>C	NP_003150.1:p.Gln791Pro
XM_011545569.1:c.2321A>C	XP_011543871.1:p.Gln774Pro
XM_011545570.1:c.2240A>C	XP_011543872.1:p.Gln747Pro
XR_950484.1:n.2624A>C
NM_001323289.1:c.2372A>C	NP_001310218.1:p.Gln791Pro
NM_001323289.2:c.2372A>C MANE Select	NP_001310218.1:p.Gln791Pro
NM_001037343.2:c.2372A>C	NP_001032420.1:p.Gln791Pro
NM_003159.3:c.2372A>C	NP_003150.1:p.Gln791Pro