Canonical Allele Identifier: CA16042049

Identifiers and link-outs to other resources

ClinVar Variation Id: 370754
ClinVar RCV Id: RCV000411199
dbSNP Id: rs1057516744

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18644454G>T , CM000685.2:g.18644454G>T GRCh38
NC_000023.10:g.18662574G>T , CM000685.1:g.18662574G>T GRCh37
NC_000023.9:g.18572495G>T NCBI36
NG_008475.1:g.223850G>T
NG_008659.3:g.37995C>A , LRG_702:g.37995C>A

Transcript Alleles

HGVS Amino-acid change
NM_000330.3:c.498C>A , LRG_702t1:c.498C>A (RS1) NP_000321.1:p.Tyr166Ter
NM_001037343.1:c.2714-1553G>T (CDKL5) VV NP_001032420.1:p.=
NM_003159.2:c.2714-1553G>T (CDKL5) VV NP_003150.1:p.=
XM_011545569.1:c.2786-1553G>T (CDKL5) XP_011543871.1:p.=
XM_011545570.1:c.2705-1553G>T (CDKL5) XP_011543872.1:p.=
XR_950484.1:n.3089-1553G>T (CDKL5)
ENST00000379984.3:c.498C>A ENSP00000369320.3:p.Tyr166Ter
ENST00000379989.6:c.2714-1553G>T ENSP00000369325.3:p.=
ENST00000379996.7:c.2714-1553G>T ENSP00000369332.3:p.=
ENST00000476595.1:n.989C>A