Canonical Allele Identifier: CA412361097

Gene: CDKL5

Linked Data

• dbSNP Id: rs1926283214
• gnomAD v4: X-18604404-G-T
• MyVariant Identifiers: chrX:g.18622524G>T (hg19) ; chrX:g.18604404G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604404G>T , CM000685.2:g.18604404G>T	GRCh38
NC_000023.10:g.18622524G>T , CM000685.1:g.18622524G>T	GRCh37
NC_000023.9:g.18532445G>T	NCBI36
NG_008475.1:g.183800G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1480G>T MANE Select	ENSP00000485244.1:p.Asp494Tyr
ENST00000635828.1:c.1480G>T	ENSP00000490170.1:p.Asp494Tyr
ENST00000674046.1:c.1480G>T	ENSP00000501174.1:p.Asp494Tyr
ENST00000379989.6:c.1480G>T	ENSP00000369325.3:p.Asp494Tyr
ENST00000379996.7:c.1480G>T	ENSP00000369332.3:p.Asp494Tyr
ENST00000463994.4:c.1480G>T	ENSP00000485184.1:p.Asp494Tyr
ENST00000623535.1:c.1480G>T	ENSP00000485244.1:p.Asp494Tyr
NM_001037343.1:c.1480G>T	NP_001032420.1:p.Asp494Tyr
NM_003159.2:c.1480G>T	NP_003150.1:p.Asp494Tyr
XM_011545569.1:c.1429G>T	XP_011543871.1:p.Asp477Tyr
XM_011545570.1:c.1348G>T	XP_011543872.1:p.Asp450Tyr
XR_950484.1:n.1732G>T
NM_001323289.1:c.1480G>T	NP_001310218.1:p.Asp494Tyr
NM_001323289.2:c.1480G>T MANE Select	NP_001310218.1:p.Asp494Tyr
NM_001037343.2:c.1480G>T	NP_001032420.1:p.Asp494Tyr
NM_003159.3:c.1480G>T	NP_003150.1:p.Asp494Tyr