Canonical Allele Identifier: CA209185
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 210646
ClinVar RCV Id: RCV000194778 RCV000990489 RCV001507064 RCV001519910 RCV001545727
dbSNP Id: rs747799506
ExAC: X:18668628 G / A
gnomAD v2: X-18668628-G-A
gnomAD v3: X-18650508-G-A
gnomAD v4: X-18650508-G-A
MyVariant Identifiers: chrX:g.18668628G>A (hg19) chrX:g.18650508G>A (hg38)
ERepo: CA209185/MONDO:0100039/016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650508G>A , CM000685.2:g.18650508G>A GRCh38
NC_000023.10:g.18668628G>A , CM000685.1:g.18668628G>A GRCh37
NC_000023.9:g.18578549G>A NCBI36
NG_008475.1:g.229904G>A
NG_008659.3:g.31941C>T , LRG_702:g.31941C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3176C>T (RS1) MANE Select ENSP00000369320.3:n.185-3176C>T
ENST00000673617.1:n.168G>A (CDKL5)
ENST00000379984.3:c.185-3176C>T (RS1) ENSP00000369320.3:n.185-3176C>T
ENST00000379989.6:c.2896G>A (CDKL5) ENSP00000369325.3:p.Val966Ile
ENST00000379996.7:c.2896G>A (CDKL5) ENSP00000369332.3:p.Val966Ile
ENST00000476595.1:n.30C>T (RS1)
NM_000330.3:c.185-3176C>T , LRG_702t1:c.185-3176C>T (RS1) NP_000321.1:n.185-3176C>T
NM_001037343.1:c.2896G>A (CDKL5) NP_001032420.1:p.Val966Ile
NM_003159.2:c.2896G>A (CDKL5) NP_003150.1:p.Val966Ile
XM_011545569.1:c.2968G>A (CDKL5) XP_011543871.1:p.Val990Ile
XM_011545570.1:c.2887G>A (CDKL5) XP_011543872.1:p.Val963Ile
XR_950484.1:n.3271G>A (CDKL5)
NM_000330.4:c.185-3176C>T (RS1) MANE Select NP_000321.1:n.185-3176C>T
NM_001037343.2:c.2896G>A (CDKL5) NP_001032420.1:p.Val966Ile
NM_003159.3:c.2896G>A (CDKL5) NP_003150.1:p.Val966Ile
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