Canonical Allele Identifier: CA171614
Gene: CDKL5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143781
dbSNP Id: rs267608395

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604599C>T , CM000685.2:g.18604599C>T GRCh38
NC_000023.10:g.18622719C>T , CM000685.1:g.18622719C>T GRCh37
NC_000023.9:g.18532640C>T NCBI36
NG_008475.1:g.183995C>T

Transcript Alleles

HGVS Amino-acid change
NM_001037343.1:c.1675C>T VV NP_001032420.1:p.Arg559Ter
NM_003159.2:c.1675C>T VV NP_003150.1:p.Arg559Ter
XM_011545569.1:c.1624C>T XP_011543871.1:p.Arg542Ter
XM_011545570.1:c.1543C>T XP_011543872.1:p.Arg515Ter
XR_950484.1:n.1927C>T
NM_001323289.1:c.1675C>T VV NP_001310218.1:p.Arg559Ter
ENST00000379989.6:c.1675C>T ENSP00000369325.3:p.Arg559Ter
ENST00000379996.7:c.1675C>T ENSP00000369332.3:p.Arg559Ter
ENST00000463994.4:c.1675C>T ENSP00000485184.1:p.Arg559Ter
ENST00000623535.1:n.1675C>T ENSP00000485244.1:p.Arg559Ter