Canonical Allele Identifier: CA170457
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143786
ClinVar RCV Id: RCV000133333 RCV000659290 RCV000725189 RCV002281061 RCV002408638 RCV000700107
dbSNP Id: rs144878564
ExAC: X:18622936 T / C
gnomAD v2: X-18622936-T-C
gnomAD v3: X-18604816-T-C
gnomAD v4: X-18604816-T-C
MyVariant Identifiers: chrX:g.18622936T>C (hg19) chrX:g.18604816T>C (hg38)
PubMed: PMID:19793311
ERepo: CA170457/MONDO:0100039/016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604816T>C , CM000685.2:g.18604816T>C GRCh38
NC_000023.10:g.18622936T>C , CM000685.1:g.18622936T>C GRCh37
NC_000023.9:g.18532857T>C NCBI36
NG_008475.1:g.184212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1892T>C MANE Select ENSP00000485244.1:p.Ile631Thr
ENST00000635828.1:c.1892T>C ENSP00000490170.1:p.Ile631Thr
ENST00000674046.1:c.1892T>C ENSP00000501174.1:p.Ile631Thr
ENST00000379989.6:c.1892T>C ENSP00000369325.3:p.Ile631Thr
ENST00000379996.7:c.1892T>C ENSP00000369332.3:p.Ile631Thr
ENST00000463994.4:c.1892T>C ENSP00000485184.1:p.Ile631Thr
ENST00000623535.1:c.1892T>C ENSP00000485244.1:p.Ile631Thr
NM_001037343.1:c.1892T>C NP_001032420.1:p.Ile631Thr
NM_003159.2:c.1892T>C NP_003150.1:p.Ile631Thr
XM_011545569.1:c.1841T>C XP_011543871.1:p.Ile614Thr
XM_011545570.1:c.1760T>C XP_011543872.1:p.Ile587Thr
XR_950484.1:n.2144T>C
NM_001323289.1:c.1892T>C NP_001310218.1:p.Ile631Thr
NM_001323289.2:c.1892T>C MANE Select NP_001310218.1:p.Ile631Thr
NM_001037343.2:c.1892T>C NP_001032420.1:p.Ile631Thr
NM_003159.3:c.1892T>C NP_003150.1:p.Ile631Thr
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