Canonical Allele Identifier: CA412373075
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650420C>G , CM000685.2:g.18650420C>G GRCh38
NC_000023.10:g.18668540C>G , CM000685.1:g.18668540C>G GRCh37
NC_000023.9:g.18578461C>G NCBI36
NG_008475.1:g.229816C>G
NG_008659.3:g.32029G>C , LRG_702:g.32029G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3088G>C (RS1) MANE Select ENSP00000369320.3:n.185-3088G>C
ENST00000673617.1:n.80C>G (CDKL5)
ENST00000379984.3:c.185-3088G>C (RS1) ENSP00000369320.3:n.185-3088G>C
ENST00000379989.6:c.2808C>G (CDKL5) ENSP00000369325.3:p.Phe936Leu
ENST00000379996.7:c.2808C>G (CDKL5) ENSP00000369332.3:p.Phe936Leu
ENST00000476595.1:n.118G>C (RS1)
NM_000330.3:c.185-3088G>C , LRG_702t1:c.185-3088G>C (RS1) NP_000321.1:n.185-3088G>C
NM_001037343.1:c.2808C>G (CDKL5) NP_001032420.1:p.Phe936Leu
NM_003159.2:c.2808C>G (CDKL5) NP_003150.1:p.Phe936Leu
XM_011545569.1:c.2880C>G (CDKL5) XP_011543871.1:p.Phe960Leu
XM_011545570.1:c.2799C>G (CDKL5) XP_011543872.1:p.Phe933Leu
XR_950484.1:n.3183C>G (CDKL5)
NM_000330.4:c.185-3088G>C (RS1) MANE Select NP_000321.1:n.185-3088G>C
NM_001037343.2:c.2808C>G (CDKL5) NP_001032420.1:p.Phe936Leu
NM_003159.3:c.2808C>G (CDKL5) NP_003150.1:p.Phe936Leu
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