Canonical Allele Identifier: CA2417974030

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604261C= , CM000685.2:g.18604261C=	GRCh38
NC_000023.10:g.18622381C= , CM000685.1:g.18622381C=	GRCh37
NC_000023.9:g.18532302C=	NCBI36
NG_008475.1:g.183657C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1337C= MANE Select	ENSP00000485244.1:p.Ser446=
ENST00000635828.1:c.1337C=	ENSP00000490170.1:p.Ser446=
ENST00000637881.1:c.1337C=	ENSP00000489879.1:p.Ser446=
ENST00000674046.1:c.1337C=	ENSP00000501174.1:p.Ser446=
ENST00000379989.6:c.1337C=	ENSP00000369325.3:p.Ser446=
ENST00000379996.7:c.1337C=	ENSP00000369332.3:p.Ser446=
ENST00000463994.4:c.1337C=	ENSP00000485184.1:p.Ser446=
ENST00000623535.1:c.1337C=	ENSP00000485244.1:p.Ser446=
NM_001037343.1:c.1337C=	NP_001032420.1:p.Ser446=
NM_003159.2:c.1337C=	NP_003150.1:p.Ser446=
XM_011545569.1:c.1286C=	XP_011543871.1:p.Ser429=
XM_011545570.1:c.1205C=	XP_011543872.1:p.Ser402=
XR_950484.1:n.1589C=
NM_001323289.1:c.1337C=	NP_001310218.1:p.Ser446=
NM_001323289.2:c.1337C= MANE Select	NP_001310218.1:p.Ser446=
NM_001037343.2:c.1337C=	NP_001032420.1:p.Ser446=
NM_003159.3:c.1337C=	NP_003150.1:p.Ser446=