Canonical Allele Identifier: CA3067409865
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650415T= , CM000685.2:g.18650415T= GRCh38
NC_000023.10:g.18668535T= , CM000685.1:g.18668535T= GRCh37
NC_000023.9:g.18578456T= NCBI36
NG_008475.1:g.229811T=
NG_008659.3:g.32034A= , LRG_702:g.32034A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3083A= (RS1) MANE Select ENSP00000369320.3:n.185-3083A=
ENST00000673617.1:n.75T= (CDKL5)
ENST00000379984.3:c.185-3083A= (RS1) ENSP00000369320.3:n.185-3083A=
ENST00000379989.6:c.2803T= (CDKL5) ENSP00000369325.3:p.Tyr935=
ENST00000379996.7:c.2803T= (CDKL5) ENSP00000369332.3:p.Tyr935=
ENST00000476595.1:n.123A= (RS1)
NM_000330.3:c.185-3083A= , LRG_702t1:c.185-3083A= (RS1) NP_000321.1:n.185-3083A=
NM_001037343.1:c.2803T= (CDKL5) NP_001032420.1:p.Tyr935=
NM_003159.2:c.2803T= (CDKL5) NP_003150.1:p.Tyr935=
XM_011545569.1:c.2875T= (CDKL5) XP_011543871.1:p.Tyr959=
XM_011545570.1:c.2794T= (CDKL5) XP_011543872.1:p.Tyr932=
XR_950484.1:n.3178T= (CDKL5)
NM_000330.4:c.185-3083A= (RS1) MANE Select NP_000321.1:n.185-3083A=
NM_001037343.2:c.2803T= (CDKL5) NP_001032420.1:p.Tyr935=
NM_003159.3:c.2803T= (CDKL5) NP_003150.1:p.Tyr935=
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