Canonical Allele Identifier: CA121523

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 11503
• ClinVar RCV Id: RCV000012258 ; RCV000080068 ; RCV000169913 ; RCV001385703 ; RCV001507029
• dbSNP Id: rs62641235
• MyVariant Identifiers: chrX:g.18593543T>C (hg19) ; chrX:g.18575423T>C (hg38)
• ERepo: CA121523/MONDO:0100039/016
• PubMed: PMID:19396824 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18575423T>C , CM000685.2:g.18575423T>C	GRCh38
NC_000023.10:g.18593543T>C , CM000685.1:g.18593543T>C	GRCh37
NC_000023.9:g.18503464T>C	NCBI36
NG_008475.1:g.154819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.215T>C MANE Select	ENSP00000485244.1:p.Ile72Thr
ENST00000635828.1:c.215T>C	ENSP00000490170.1:p.Ile72Thr
ENST00000637881.1:c.215T>C	ENSP00000489879.1:p.Ile72Thr
ENST00000674046.1:c.215T>C	ENSP00000501174.1:p.Ile72Thr
ENST00000379989.6:c.215T>C	ENSP00000369325.3:p.Ile72Thr
ENST00000379996.7:c.215T>C	ENSP00000369332.3:p.Ile72Thr
ENST00000463994.4:c.215T>C	ENSP00000485184.1:p.Ile72Thr
ENST00000623535.1:c.215T>C	ENSP00000485244.1:p.Ile72Thr
NM_001037343.1:c.215T>C	NP_001032420.1:p.Ile72Thr
NM_003159.2:c.215T>C	NP_003150.1:p.Ile72Thr
XM_011545569.1:c.215T>C	XP_011543871.1:p.Ile72Thr
XM_011545570.1:c.83T>C	XP_011543872.1:p.Ile28Thr
XR_950484.1:n.467T>C
NM_001323289.1:c.215T>C	NP_001310218.1:p.Ile72Thr
NM_001323289.2:c.215T>C MANE Select	NP_001310218.1:p.Ile72Thr
NM_001037343.2:c.215T>C	NP_001032420.1:p.Ile72Thr
NM_003159.3:c.215T>C	NP_003150.1:p.Ile72Thr