Canonical Allele Identifier: CA412359978
Gene: CDKL5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18622261T>G (hg19) chrX:g.18604141T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604141T>G , CM000685.2:g.18604141T>G GRCh38
NC_000023.10:g.18622261T>G , CM000685.1:g.18622261T>G GRCh37
NC_000023.9:g.18532182T>G NCBI36
NG_008475.1:g.183537T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1217T>G MANE Select ENSP00000485244.1:p.Leu406Arg
ENST00000635828.1:c.1217T>G ENSP00000490170.1:p.Leu406Arg
ENST00000637881.1:c.1217T>G ENSP00000489879.1:p.Leu406Arg
ENST00000674046.1:c.1217T>G ENSP00000501174.1:p.Leu406Arg
ENST00000379989.6:c.1217T>G ENSP00000369325.3:p.Leu406Arg
ENST00000379996.7:c.1217T>G ENSP00000369332.3:p.Leu406Arg
ENST00000463994.4:c.1217T>G ENSP00000485184.1:p.Leu406Arg
ENST00000623535.1:c.1217T>G ENSP00000485244.1:p.Leu406Arg
NM_001037343.1:c.1217T>G NP_001032420.1:p.Leu406Arg
NM_003159.2:c.1217T>G NP_003150.1:p.Leu406Arg
XM_011545569.1:c.1166T>G XP_011543871.1:p.Leu389Arg
XM_011545570.1:c.1085T>G XP_011543872.1:p.Leu362Arg
XR_950484.1:n.1469T>G
NM_001323289.1:c.1217T>G NP_001310218.1:p.Leu406Arg
NM_001323289.2:c.1217T>G MANE Select NP_001310218.1:p.Leu406Arg
NM_001037343.2:c.1217T>G NP_001032420.1:p.Leu406Arg
NM_003159.3:c.1217T>G NP_003150.1:p.Leu406Arg
Search 100 bp 5'
Search 100 bp 3'