Canonical Allele Identifier: CA10360565

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1046637
• ClinVar RCV Id: RCV001351218 ; RCV001713081 ; RCV003448398
• dbSNP Id: rs748905018
• ExAC: X:18646550 G / A
• gnomAD v2: X-18646550-G-A
• gnomAD v4: X-18628430-G-A
• MyVariant Identifiers: chrX:g.18646550G>A (hg19) ; chrX:g.18628430G>A (hg38)
• ERepo: CA10360565/MONDO:0100039/034

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628430G>A , CM000685.2:g.18628430G>A	GRCh38
NC_000023.10:g.18646550G>A , CM000685.1:g.18646550G>A	GRCh37
NC_000023.9:g.18556471G>A	NCBI36
NG_008475.1:g.207826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2556G>A MANE Select	ENSP00000485244.1:p.Pro852=
ENST00000674046.1:c.2679G>A	ENSP00000501174.1:p.Pro893=
ENST00000379989.6:c.2556G>A	ENSP00000369325.3:p.Pro852=
ENST00000379996.7:c.2556G>A	ENSP00000369332.3:p.Pro852=
ENST00000623535.1:c.2556G>A	ENSP00000485244.1:p.Pro852=
NM_001037343.1:c.2556G>A	NP_001032420.1:p.Pro852=
NM_003159.2:c.2556G>A	NP_003150.1:p.Pro852=
XM_011545569.1:c.2628G>A	XP_011543871.1:p.Pro876=
XM_011545570.1:c.2547G>A	XP_011543872.1:p.Pro849=
XR_950484.1:n.2931G>A
NM_001323289.1:c.2556G>A	NP_001310218.1:p.Pro852=
NM_001323289.2:c.2556G>A MANE Select	NP_001310218.1:p.Pro852=
NM_001037343.2:c.2556G>A	NP_001032420.1:p.Pro852=
NM_003159.3:c.2556G>A	NP_003150.1:p.Pro852=