Canonical Allele Identifier: CA16608369
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 379264
ClinVar RCV Id: RCV000426218
dbSNP Id: rs1057520548
MyVariant Identifiers: chrX:g.18665358A>T (hg19) chrX:g.18647238A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18647238A>T , CM000685.2:g.18647238A>T GRCh38
NC_000023.10:g.18665358A>T , CM000685.1:g.18665358A>T GRCh37
NC_000023.9:g.18575279A>T NCBI36
NG_008475.1:g.226634A>T
NG_008659.3:g.35211T>A , LRG_702:g.35211T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379984.4:c.279T>A (RS1) MANE Select ENSP00000369320.3:p.Tyr93Ter
ENST00000379984.3:c.279T>A (RS1) ENSP00000369320.3:p.Tyr93Ter
ENST00000379989.6:c.2797+1148A>T (CDKL5) ENSP00000369325.3:n.2797+1148A>T
ENST00000379996.7:c.2797+1148A>T (CDKL5) ENSP00000369332.3:n.2797+1148A>T
ENST00000476595.1:n.770T>A (RS1)
NM_000330.3:c.279T>A , LRG_702t1:c.279T>A (RS1) NP_000321.1:p.Tyr93Ter
NM_001037343.1:c.2797+1148A>T (CDKL5) NP_001032420.1:n.2797+1148A>T
NM_003159.2:c.2797+1148A>T (CDKL5) NP_003150.1:n.2797+1148A>T
XM_011545569.1:c.2869+1148A>T (CDKL5) XP_011543871.1:n.2869+1148A>T
XM_011545570.1:c.2788+1148A>T (CDKL5) XP_011543872.1:n.2788+1148A>T
XR_950484.1:n.3172+1148A>T (CDKL5)
NM_000330.4:c.279T>A (RS1) MANE Select NP_000321.1:p.Tyr93Ter
NM_001037343.2:c.2797+1148A>T (CDKL5) NP_001032420.1:n.2797+1148A>T
NM_003159.3:c.2797+1148A>T (CDKL5) NP_003150.1:n.2797+1148A>T
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