Canonical Allele Identifier: CA412356265

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2035673
• ClinVar RCV Id: RCV002894386
• MyVariant Identifiers: chrX:g.18616690A>T (hg19) ; chrX:g.18598570A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598570A>T , CM000685.2:g.18598570A>T	GRCh38
NC_000023.10:g.18616690A>T , CM000685.1:g.18616690A>T	GRCh37
NC_000023.9:g.18526611A>T	NCBI36
NG_008475.1:g.177966A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.934A>T MANE Select	ENSP00000485244.1:p.Lys312Ter
ENST00000635828.1:c.934A>T	ENSP00000490170.1:p.Lys312Ter
ENST00000637881.1:c.934A>T	ENSP00000489879.1:p.Lys312Ter
ENST00000674046.1:c.934A>T	ENSP00000501174.1:p.Lys312Ter
ENST00000379989.6:c.934A>T	ENSP00000369325.3:p.Lys312Ter
ENST00000379996.7:c.934A>T	ENSP00000369332.3:p.Lys312Ter
ENST00000463994.4:c.934A>T	ENSP00000485184.1:p.Lys312Ter
ENST00000623535.1:c.934A>T	ENSP00000485244.1:p.Lys312Ter
NM_001037343.1:c.934A>T	NP_001032420.1:p.Lys312Ter
NM_003159.2:c.934A>T	NP_003150.1:p.Lys312Ter
XM_011545569.1:c.926+8A>T	XP_011543871.1:n.926+8A>T
XM_011545570.1:c.802A>T	XP_011543872.1:p.Lys268Ter
XR_950484.1:n.1186A>T
NM_001323289.1:c.934A>T	NP_001310218.1:p.Lys312Ter
NM_001323289.2:c.934A>T MANE Select	NP_001310218.1:p.Lys312Ter
NM_001037343.2:c.934A>T	NP_001032420.1:p.Lys312Ter
NM_003159.3:c.934A>T	NP_003150.1:p.Lys312Ter