Canonical Allele Identifier: CA412360098

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 464808
• ClinVar RCV Id: RCV000560461
• dbSNP Id: rs1555951991
• MyVariant Identifiers: chrX:g.18622290G>T (hg19) ; chrX:g.18604170G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604170G>T , CM000685.2:g.18604170G>T	GRCh38
NC_000023.10:g.18622290G>T , CM000685.1:g.18622290G>T	GRCh37
NC_000023.9:g.18532211G>T	NCBI36
NG_008475.1:g.183566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1246G>T MANE Select	ENSP00000485244.1:p.Glu416Ter
ENST00000635828.1:c.1246G>T	ENSP00000490170.1:p.Glu416Ter
ENST00000637881.1:c.1246G>T	ENSP00000489879.1:p.Glu416Ter
ENST00000674046.1:c.1246G>T	ENSP00000501174.1:p.Glu416Ter
ENST00000379989.6:c.1246G>T	ENSP00000369325.3:p.Glu416Ter
ENST00000379996.7:c.1246G>T	ENSP00000369332.3:p.Glu416Ter
ENST00000463994.4:c.1246G>T	ENSP00000485184.1:p.Glu416Ter
ENST00000623535.1:c.1246G>T	ENSP00000485244.1:p.Glu416Ter
NM_001037343.1:c.1246G>T	NP_001032420.1:p.Glu416Ter
NM_003159.2:c.1246G>T	NP_003150.1:p.Glu416Ter
XM_011545569.1:c.1195G>T	XP_011543871.1:p.Glu399Ter
XM_011545570.1:c.1114G>T	XP_011543872.1:p.Glu372Ter
XR_950484.1:n.1498G>T
NM_001323289.1:c.1246G>T	NP_001310218.1:p.Glu416Ter
NM_001323289.2:c.1246G>T MANE Select	NP_001310218.1:p.Glu416Ter
NM_001037343.2:c.1246G>T	NP_001032420.1:p.Glu416Ter
NM_003159.3:c.1246G>T	NP_003150.1:p.Glu416Ter