Canonical Allele Identifier: CA412369185

Gene: CDKL5

Linked Data

• MyVariant Identifiers: chrX:g.18646834C>T (hg19) ; chrX:g.18628714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628714C>T , CM000685.2:g.18628714C>T	GRCh38
NC_000023.10:g.18646834C>T , CM000685.1:g.18646834C>T	GRCh37
NC_000023.9:g.18556755C>T	NCBI36
NG_008475.1:g.208110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2840C>T MANE Select	ENSP00000485244.1:p.Ser947Leu
ENST00000674046.1:c.2963C>T	ENSP00000501174.1:p.Ser988Leu
ENST00000379989.6:c.2713+127C>T	ENSP00000369325.3:n.2713+127C>T
ENST00000379996.7:c.2713+127C>T	ENSP00000369332.3:n.2713+127C>T
ENST00000623535.1:c.2840C>T	ENSP00000485244.1:p.Ser947Leu
NM_001037343.1:c.2713+127C>T	NP_001032420.1:n.2713+127C>T
NM_003159.2:c.2713+127C>T	NP_003150.1:n.2713+127C>T
XM_011545569.1:c.2785+127C>T	XP_011543871.1:n.2785+127C>T
XM_011545570.1:c.2704+127C>T	XP_011543872.1:n.2704+127C>T
XR_950484.1:n.3088+127C>T
NM_001323289.1:c.2840C>T	NP_001310218.1:p.Ser947Leu
NM_001323289.2:c.2840C>T MANE Select	NP_001310218.1:p.Ser947Leu
NM_001037343.2:c.2713+127C>T	NP_001032420.1:n.2713+127C>T
NM_003159.3:c.2713+127C>T	NP_003150.1:n.2713+127C>T