Canonical Allele Identifier: CA171640
Community Standard Title: NM_000330.4(RS1):c.185-3207G>A
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650539C>T , CM000685.2:g.18650539C>T GRCh38
NC_000023.10:g.18668659C>T , CM000685.1:g.18668659C>T GRCh37
NC_000023.9:g.18578580C>T NCBI36
NG_008475.1:g.229935C>T
NG_008659.3:g.31910G>A , LRG_702:g.31910G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000330.4:c.185-3207G>A (RS1) MANE Select NP_000321.1:n.185-3207G>A
ENST00000379984.4:c.185-3207G>A (RS1) MANE Select ENSP00000369320.3:n.185-3207G>A
NM_000330.3:c.185-3207G>A , LRG_702t1:c.185-3207G>A (RS1) NP_000321.1:n.185-3207G>A
NM_001037343.1:c.2927C>T (CDKL5) NP_001032420.1:p.Pro976Leu
NM_001037343.2:c.2927C>T (CDKL5) NP_001032420.1:p.Pro976Leu
NM_003159.2:c.2927C>T (CDKL5) NP_003150.1:p.Pro976Leu
NM_003159.3:c.2927C>T (CDKL5) NP_003150.1:p.Pro976Leu
ENST00000379984.3:c.185-3207G>A (RS1) ENSP00000369320.3:n.185-3207G>A
ENST00000379989.6:c.2927C>T (CDKL5) ENSP00000369325.3:p.Pro976Leu
ENST00000379996.7:c.2927C>T (CDKL5) ENSP00000369332.3:p.Pro976Leu
ENST00000673617.1:n.199C>T (CDKL5)
XM_011545569.1:c.2999C>T (CDKL5) XP_011543871.1:p.Pro1000Leu
XM_011545570.1:c.2918C>T (CDKL5) XP_011543872.1:p.Pro973Leu
XR_950484.1:n.3302C>T (CDKL5)
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