Canonical Allele Identifier: CA515471776

Gene: CDKL5

Linked Data

• MyVariant Identifiers: chrX:g.18646694C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628574C>T , CM000685.2:g.18628574C>T	GRCh38
NC_000023.10:g.18646694C>T , CM000685.1:g.18646694C>T	GRCh37
NC_000023.9:g.18556615C>T	NCBI36
NG_008475.1:g.207970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2700C>T MANE Select	ENSP00000485244.1:p.Ala900=
ENST00000674046.1:c.2823C>T	ENSP00000501174.1:p.Ala941=
ENST00000379989.6:c.2700C>T	ENSP00000369325.3:p.Ala900=
ENST00000379996.7:c.2700C>T	ENSP00000369332.3:p.Ala900=
ENST00000623535.1:c.2700C>T	ENSP00000485244.1:p.Ala900=
NM_001037343.1:c.2700C>T	NP_001032420.1:p.Ala900=
NM_003159.2:c.2700C>T	NP_003150.1:p.Ala900=
XM_011545569.1:c.2772C>T	XP_011543871.1:p.Ala924=
XM_011545570.1:c.2691C>T	XP_011543872.1:p.Ala897=
XR_950484.1:n.3075C>T
NM_001323289.1:c.2700C>T	NP_001310218.1:p.Ala900=
NM_001323289.2:c.2700C>T MANE Select	NP_001310218.1:p.Ala900=
NM_001037343.2:c.2700C>T	NP_001032420.1:p.Ala900=
NM_003159.3:c.2700C>T	NP_003150.1:p.Ala900=