Canonical Allele Identifier: CA412361346

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 464809
• ClinVar RCV Id: RCV000535244 ; RCV003326138
• dbSNP Id: rs1555952052
• MyVariant Identifiers: chrX:g.18622563C>T (hg19) ; chrX:g.18604443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604443C>T , CM000685.2:g.18604443C>T	GRCh38
NC_000023.10:g.18622563C>T , CM000685.1:g.18622563C>T	GRCh37
NC_000023.9:g.18532484C>T	NCBI36
NG_008475.1:g.183839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1519C>T MANE Select	ENSP00000485244.1:p.Gln507Ter
ENST00000635828.1:c.1519C>T	ENSP00000490170.1:p.Gln507Ter
ENST00000674046.1:c.1519C>T	ENSP00000501174.1:p.Gln507Ter
ENST00000379989.6:c.1519C>T	ENSP00000369325.3:p.Gln507Ter
ENST00000379996.7:c.1519C>T	ENSP00000369332.3:p.Gln507Ter
ENST00000463994.4:c.1519C>T	ENSP00000485184.1:p.Gln507Ter
ENST00000623535.1:c.1519C>T	ENSP00000485244.1:p.Gln507Ter
NM_001037343.1:c.1519C>T	NP_001032420.1:p.Gln507Ter
NM_003159.2:c.1519C>T	NP_003150.1:p.Gln507Ter
XM_011545569.1:c.1468C>T	XP_011543871.1:p.Gln490Ter
XM_011545570.1:c.1387C>T	XP_011543872.1:p.Gln463Ter
XR_950484.1:n.1771C>T
NM_001323289.1:c.1519C>T	NP_001310218.1:p.Gln507Ter
NM_001323289.2:c.1519C>T MANE Select	NP_001310218.1:p.Gln507Ter
NM_001037343.2:c.1519C>T	NP_001032420.1:p.Gln507Ter
NM_003159.3:c.1519C>T	NP_003150.1:p.Gln507Ter