Canonical Allele Identifier: CA412359855

Gene: CDKL5

Linked Data

• dbSNP Id: rs1926266976
• MyVariant Identifiers: chrX:g.18622233C>G (hg19) ; chrX:g.18604113C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604113C>G , CM000685.2:g.18604113C>G	GRCh38
NC_000023.10:g.18622233C>G , CM000685.1:g.18622233C>G	GRCh37
NC_000023.9:g.18532154C>G	NCBI36
NG_008475.1:g.183509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1189C>G MANE Select	ENSP00000485244.1:p.Leu397Val
ENST00000635828.1:c.1189C>G	ENSP00000490170.1:p.Leu397Val
ENST00000637881.1:c.1189C>G	ENSP00000489879.1:p.Leu397Val
ENST00000674046.1:c.1189C>G	ENSP00000501174.1:p.Leu397Val
ENST00000379989.6:c.1189C>G	ENSP00000369325.3:p.Leu397Val
ENST00000379996.7:c.1189C>G	ENSP00000369332.3:p.Leu397Val
ENST00000463994.4:c.1189C>G	ENSP00000485184.1:p.Leu397Val
ENST00000623535.1:c.1189C>G	ENSP00000485244.1:p.Leu397Val
NM_001037343.1:c.1189C>G	NP_001032420.1:p.Leu397Val
NM_003159.2:c.1189C>G	NP_003150.1:p.Leu397Val
XM_011545569.1:c.1138C>G	XP_011543871.1:p.Leu380Val
XM_011545570.1:c.1057C>G	XP_011543872.1:p.Leu353Val
XR_950484.1:n.1441C>G
NM_001323289.1:c.1189C>G	NP_001310218.1:p.Leu397Val
NM_001323289.2:c.1189C>G MANE Select	NP_001310218.1:p.Leu397Val
NM_001037343.2:c.1189C>G	NP_001032420.1:p.Leu397Val
NM_003159.3:c.1189C>G	NP_003150.1:p.Leu397Val