Canonical Allele Identifier: CA16621280

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 419920
• ClinVar RCV Id: RCV000484294 ; RCV001312883
• dbSNP Id: rs761662406
• gnomAD v4: X-18604719-A-G
• MyVariant Identifiers: chrX:g.18622839A>G (hg19) ; chrX:g.18604719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604719A>G , CM000685.2:g.18604719A>G	GRCh38
NC_000023.10:g.18622839A>G , CM000685.1:g.18622839A>G	GRCh37
NC_000023.9:g.18532760A>G	NCBI36
NG_008475.1:g.184115A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1795A>G MANE Select	ENSP00000485244.1:p.Thr599Ala
ENST00000635828.1:c.1795A>G	ENSP00000490170.1:p.Thr599Ala
ENST00000674046.1:c.1795A>G	ENSP00000501174.1:p.Thr599Ala
ENST00000379989.6:c.1795A>G	ENSP00000369325.3:p.Thr599Ala
ENST00000379996.7:c.1795A>G	ENSP00000369332.3:p.Thr599Ala
ENST00000463994.4:c.1795A>G	ENSP00000485184.1:p.Thr599Ala
ENST00000623535.1:c.1795A>G	ENSP00000485244.1:p.Thr599Ala
NM_001037343.1:c.1795A>G	NP_001032420.1:p.Thr599Ala
NM_003159.2:c.1795A>G	NP_003150.1:p.Thr599Ala
XM_011545569.1:c.1744A>G	XP_011543871.1:p.Thr582Ala
XM_011545570.1:c.1663A>G	XP_011543872.1:p.Thr555Ala
XR_950484.1:n.2047A>G
NM_001323289.1:c.1795A>G	NP_001310218.1:p.Thr599Ala
NM_001323289.2:c.1795A>G MANE Select	NP_001310218.1:p.Thr599Ala
NM_001037343.2:c.1795A>G	NP_001032420.1:p.Thr599Ala
NM_003159.3:c.1795A>G	NP_003150.1:p.Thr599Ala