Canonical Allele Identifier: CA170500

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 143830
• ClinVar RCV Id: RCV000133381 ; RCV000640488
• dbSNP Id: rs267608511
• MyVariant Identifiers: chrX:g.18606178T>C (hg19) ; chrX:g.18588058T>C (hg38)
• PubMed: PMID:17993579

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18588058T>C , CM000685.2:g.18588058T>C	GRCh38
NC_000023.10:g.18606178T>C , CM000685.1:g.18606178T>C	GRCh37
NC_000023.9:g.18516099T>C	NCBI36
NG_008475.1:g.167454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.659T>C MANE Select	ENSP00000485244.1:p.Leu220Pro
ENST00000635828.1:c.659T>C	ENSP00000490170.1:p.Leu220Pro
ENST00000637881.1:c.659T>C	ENSP00000489879.1:p.Leu220Pro
ENST00000674046.1:c.659T>C	ENSP00000501174.1:p.Leu220Pro
ENST00000379989.6:c.659T>C	ENSP00000369325.3:p.Leu220Pro
ENST00000379996.7:c.659T>C	ENSP00000369332.3:p.Leu220Pro
ENST00000463994.4:c.659T>C	ENSP00000485184.1:p.Leu220Pro
ENST00000623535.1:c.659T>C	ENSP00000485244.1:p.Leu220Pro
ENST00000623610.1:n.373T>C
NM_001037343.1:c.659T>C	NP_001032420.1:p.Leu220Pro
NM_003159.2:c.659T>C	NP_003150.1:p.Leu220Pro
XM_011545569.1:c.659T>C	XP_011543871.1:p.Leu220Pro
XM_011545570.1:c.527T>C	XP_011543872.1:p.Leu176Pro
XR_950484.1:n.911T>C
NM_001323289.1:c.659T>C	NP_001310218.1:p.Leu220Pro
NM_001323289.2:c.659T>C MANE Select	NP_001310218.1:p.Leu220Pro
NM_001037343.2:c.659T>C	NP_001032420.1:p.Leu220Pro
NM_003159.3:c.659T>C	NP_003150.1:p.Leu220Pro