Canonical Allele Identifier: CA10605540
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 286706
ClinVar RCV Id: RCV000402438 RCV001379966 RCV003235178
dbSNP Id: rs886043453
MyVariant Identifiers: chrX:g.18627689A>G (hg19) chrX:g.18609569A>G (hg38)
ERepo: CA10605540/MONDO:0100039/033
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18609569A>G , CM000685.2:g.18609569A>G GRCh38
NC_000023.10:g.18627689A>G , CM000685.1:g.18627689A>G GRCh37
NC_000023.9:g.18537610A>G NCBI36
NG_008475.1:g.188965A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2151A>G MANE Select ENSP00000485244.1:p.Arg717=
ENST00000635828.1:c.2151A>G ENSP00000490170.1:p.Arg717=
ENST00000674046.1:c.2151A>G ENSP00000501174.1:p.Arg717=
ENST00000379989.6:c.2151A>G ENSP00000369325.3:p.Arg717=
ENST00000379996.7:c.2151A>G ENSP00000369332.3:p.Arg717=
ENST00000463994.4:c.2151A>G ENSP00000485184.1:p.Arg717=
ENST00000623535.1:c.2151A>G ENSP00000485244.1:p.Arg717=
NM_001037343.1:c.2151A>G NP_001032420.1:p.Arg717=
NM_003159.2:c.2151A>G NP_003150.1:p.Arg717=
XM_011545569.1:c.2100A>G XP_011543871.1:p.Arg700=
XM_011545570.1:c.2019A>G XP_011543872.1:p.Arg673=
XR_950484.1:n.2403A>G
NM_001323289.1:c.2151A>G NP_001310218.1:p.Arg717=
NM_001323289.2:c.2151A>G MANE Select NP_001310218.1:p.Arg717=
NM_001037343.2:c.2151A>G NP_001032420.1:p.Arg717=
NM_003159.3:c.2151A>G NP_003150.1:p.Arg717=
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