Canonical Allele Identifier: CA199404

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 156088
• ClinVar RCV Id: RCV000144135 ; RCV000170044 ; RCV002512557
• dbSNP Id: rs267608479
• MyVariant Identifiers: chrX:g.18600071G>A (hg19) ; chrX:g.18581951G>A (hg38)
• PubMed: PMID:19793311

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18581951G>A , CM000685.2:g.18581951G>A	GRCh38
NC_000023.10:g.18600071G>A , CM000685.1:g.18600071G>A	GRCh37
NC_000023.9:g.18509992G>A	NCBI36
NG_008475.1:g.161347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.463+1G>A MANE Select	ENSP00000485244.1:n.463+1G>A
ENST00000635828.1:c.463+1G>A	ENSP00000490170.1:n.463+1G>A
ENST00000637881.1:c.463+1G>A	ENSP00000489879.1:n.463+1G>A
ENST00000674046.1:c.463+1G>A	ENSP00000501174.1:n.463+1G>A
ENST00000379989.6:c.463+1G>A	ENSP00000369325.3:n.463+1G>A
ENST00000379996.7:c.463+1G>A	ENSP00000369332.3:n.463+1G>A
ENST00000463994.4:c.463+1G>A	ENSP00000485184.1:n.463+1G>A
ENST00000623535.1:c.463+1G>A	ENSP00000485244.1:n.463+1G>A
NM_001037343.1:c.463+1G>A	NP_001032420.1:n.463+1G>A
NM_003159.2:c.463+1G>A	NP_003150.1:n.463+1G>A
XM_011545569.1:c.463+1G>A	XP_011543871.1:n.463+1G>A
XM_011545570.1:c.331+1G>A	XP_011543872.1:n.331+1G>A
XR_950484.1:n.715+1G>A
NM_001323289.1:c.463+1G>A	NP_001310218.1:n.463+1G>A
NM_001323289.2:c.463+1G>A MANE Select	NP_001310218.1:n.463+1G>A
NM_001037343.2:c.463+1G>A	NP_001032420.1:n.463+1G>A
NM_003159.3:c.463+1G>A	NP_003150.1:n.463+1G>A