Canonical Allele Identifier: CA170452
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143782
ClinVar RCV Id: RCV000133329
dbSNP Id: rs267608644
MyVariant Identifiers: chrX:g.18622752G>T (hg19) chrX:g.18604632G>T (hg38)
PubMed: PMID:21160487
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604632G>T , CM000685.2:g.18604632G>T GRCh38
NC_000023.10:g.18622752G>T , CM000685.1:g.18622752G>T GRCh37
NC_000023.9:g.18532673G>T NCBI36
NG_008475.1:g.184028G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1708G>T MANE Select ENSP00000485244.1:p.Glu570Ter
ENST00000635828.1:c.1708G>T ENSP00000490170.1:p.Glu570Ter
ENST00000674046.1:c.1708G>T ENSP00000501174.1:p.Glu570Ter
ENST00000379989.6:c.1708G>T ENSP00000369325.3:p.Glu570Ter
ENST00000379996.7:c.1708G>T ENSP00000369332.3:p.Glu570Ter
ENST00000463994.4:c.1708G>T ENSP00000485184.1:p.Glu570Ter
ENST00000623535.1:c.1708G>T ENSP00000485244.1:p.Glu570Ter
NM_001037343.1:c.1708G>T NP_001032420.1:p.Glu570Ter
NM_003159.2:c.1708G>T NP_003150.1:p.Glu570Ter
XM_011545569.1:c.1657G>T XP_011543871.1:p.Glu553Ter
XM_011545570.1:c.1576G>T XP_011543872.1:p.Glu526Ter
XR_950484.1:n.1960G>T
NM_001323289.1:c.1708G>T NP_001310218.1:p.Glu570Ter
NM_001323289.2:c.1708G>T MANE Select NP_001310218.1:p.Glu570Ter
NM_001037343.2:c.1708G>T NP_001032420.1:p.Glu570Ter
NM_003159.3:c.1708G>T NP_003150.1:p.Glu570Ter
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