Canonical Allele Identifier: CA171618

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 143783
• ClinVar RCV Id: RCV000145523 ; RCV000170010 ; RCV000711154 ; RCV001385702 ; RCV004532618
• dbSNP Id: rs62653623
• COSMIC: COSM252426
• MyVariant Identifiers: chrX:g.18593503C>T (hg19) ; chrX:g.18575383C>T (hg38)
• PubMed: PMID:16611748 ; PMID:19740913 ; PMID:20493745 ; PMID:23583054

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18575383C>T , CM000685.2:g.18575383C>T	GRCh38
NC_000023.10:g.18593503C>T , CM000685.1:g.18593503C>T	GRCh37
NC_000023.9:g.18503424C>T	NCBI36
NG_008475.1:g.154779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.175C>T MANE Select	ENSP00000485244.1:p.Arg59Ter
ENST00000635828.1:c.175C>T	ENSP00000490170.1:p.Arg59Ter
ENST00000637881.1:c.175C>T	ENSP00000489879.1:p.Arg59Ter
ENST00000674046.1:c.175C>T	ENSP00000501174.1:p.Arg59Ter
ENST00000379989.6:c.175C>T	ENSP00000369325.3:p.Arg59Ter
ENST00000379996.7:c.175C>T	ENSP00000369332.3:p.Arg59Ter
ENST00000463994.4:c.175C>T	ENSP00000485184.1:p.Arg59Ter
ENST00000623364.3:c.175C>T	ENSP00000485581.1:p.Arg59Ter
ENST00000623535.1:c.175C>T	ENSP00000485244.1:p.Arg59Ter
ENST00000624700.3:c.175C>T	ENSP00000485359.1:p.Arg59Ter
NM_001037343.1:c.175C>T	NP_001032420.1:p.Arg59Ter
NM_003159.2:c.175C>T	NP_003150.1:p.Arg59Ter
XM_011545569.1:c.175C>T	XP_011543871.1:p.Arg59Ter
XM_011545570.1:c.43C>T	XP_011543872.1:p.Arg15Ter
XR_950484.1:n.427C>T
NM_001323289.1:c.175C>T	NP_001310218.1:p.Arg59Ter
NM_001323289.2:c.175C>T MANE Select	NP_001310218.1:p.Arg59Ter
NM_001037343.2:c.175C>T	NP_001032420.1:p.Arg59Ter
NM_003159.3:c.175C>T	NP_003150.1:p.Arg59Ter