Canonical Allele Identifier: CA16608795

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 393097
• ClinVar RCV Id: RCV000437063 ; RCV001055079 ; RCV003168709
• dbSNP Id: rs1057524785
• MyVariant Identifiers: chrX:g.18622974C>T (hg19) ; chrX:g.18604854C>T (hg38)
• ERepo: CA16608795/MONDO:0100039/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604854C>T , CM000685.2:g.18604854C>T	GRCh38
NC_000023.10:g.18622974C>T , CM000685.1:g.18622974C>T	GRCh37
NC_000023.9:g.18532895C>T	NCBI36
NG_008475.1:g.184250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1930C>T MANE Select	ENSP00000485244.1:p.Leu644Phe
ENST00000635828.1:c.1930C>T	ENSP00000490170.1:p.Leu644Phe
ENST00000674046.1:c.1930C>T	ENSP00000501174.1:p.Leu644Phe
ENST00000379989.6:c.1930C>T	ENSP00000369325.3:p.Leu644Phe
ENST00000379996.7:c.1930C>T	ENSP00000369332.3:p.Leu644Phe
ENST00000463994.4:c.1930C>T	ENSP00000485184.1:p.Leu644Phe
ENST00000623535.1:c.1930C>T	ENSP00000485244.1:p.Leu644Phe
NM_001037343.1:c.1930C>T	NP_001032420.1:p.Leu644Phe
NM_003159.2:c.1930C>T	NP_003150.1:p.Leu644Phe
XM_011545569.1:c.1879C>T	XP_011543871.1:p.Leu627Phe
XM_011545570.1:c.1798C>T	XP_011543872.1:p.Leu600Phe
XR_950484.1:n.2182C>T
NM_001323289.1:c.1930C>T	NP_001310218.1:p.Leu644Phe
NM_001323289.2:c.1930C>T MANE Select	NP_001310218.1:p.Leu644Phe
NM_001037343.2:c.1930C>T	NP_001032420.1:p.Leu644Phe
NM_003159.3:c.1930C>T	NP_003150.1:p.Leu644Phe