Canonical Allele Identifier: CA171632

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 156691
• ClinVar RCV Id: RCV000144836 ; RCV000145534 ; RCV002515946
• dbSNP Id: rs587783158
• MyVariant Identifiers: chrX:g.18646590C>T (hg19) ; chrX:g.18628470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628470C>T , CM000685.2:g.18628470C>T	GRCh38
NC_000023.10:g.18646590C>T , CM000685.1:g.18646590C>T	GRCh37
NC_000023.9:g.18556511C>T	NCBI36
NG_008475.1:g.207866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2596C>T MANE Select	ENSP00000485244.1:p.Gln866Ter
ENST00000674046.1:c.2719C>T	ENSP00000501174.1:p.Gln907Ter
ENST00000379989.6:c.2596C>T	ENSP00000369325.3:p.Gln866Ter
ENST00000379996.7:c.2596C>T	ENSP00000369332.3:p.Gln866Ter
ENST00000623535.1:c.2596C>T	ENSP00000485244.1:p.Gln866Ter
NM_001037343.1:c.2596C>T	NP_001032420.1:p.Gln866Ter
NM_003159.2:c.2596C>T	NP_003150.1:p.Gln866Ter
XM_011545569.1:c.2668C>T	XP_011543871.1:p.Gln890Ter
XM_011545570.1:c.2587C>T	XP_011543872.1:p.Gln863Ter
XR_950484.1:n.2971C>T
NM_001323289.1:c.2596C>T	NP_001310218.1:p.Gln866Ter
NM_001323289.2:c.2596C>T MANE Select	NP_001310218.1:p.Gln866Ter
NM_001037343.2:c.2596C>T	NP_001032420.1:p.Gln866Ter
NM_003159.3:c.2596C>T	NP_003150.1:p.Gln866Ter