Canonical Allele Identifier: CA16042049

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 370754
• ClinVar RCV Id: RCV000411199 ; RCV001380798
• dbSNP Id: rs1057516744
• MyVariant Identifiers: chrX:g.18662574G>T (hg19) ; chrX:g.18644454G>T (hg38)
• PubMed: PMID:22039241

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
ENST00000379984.4:c.498C>A (RS1) MANE Select	ENSP00000369320.3:p.Tyr166Ter
ENST00000379984.3:c.498C>A (RS1)	ENSP00000369320.3:p.Tyr166Ter
ENST00000379989.6:c.2714-1553G>T (CDKL5)	ENSP00000369325.3:n.2714-1553G>T
ENST00000379996.7:c.2714-1553G>T (CDKL5)	ENSP00000369332.3:n.2714-1553G>T
ENST00000476595.1:n.989C>A (RS1)
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)	NP_001032420.1:n.2714-1553G>T
NM_003159.2:c.2714-1553G>T (CDKL5)	NP_003150.1:n.2714-1553G>T
XM_011545569.1:c.2786-1553G>T (CDKL5)	XP_011543871.1:n.2786-1553G>T
XM_011545570.1:c.2705-1553G>T (CDKL5)	XP_011543872.1:n.2705-1553G>T
XR_950484.1:n.3089-1553G>T (CDKL5)
NM_000330.4:c.498C>A (RS1) MANE Select	NP_000321.1:p.Tyr166Ter
NM_001037343.2:c.2714-1553G>T (CDKL5)	NP_001032420.1:n.2714-1553G>T
NM_003159.3:c.2714-1553G>T (CDKL5)	NP_003150.1:n.2714-1553G>T