Canonical Allele Identifier: CA412362465
Gene: CDKL5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18622774T>G (hg19) chrX:g.18604654T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604654T>G , CM000685.2:g.18604654T>G GRCh38
NC_000023.10:g.18622774T>G , CM000685.1:g.18622774T>G GRCh37
NC_000023.9:g.18532695T>G NCBI36
NG_008475.1:g.184050T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1730T>G MANE Select ENSP00000485244.1:p.Met577Arg
ENST00000635828.1:c.1730T>G ENSP00000490170.1:p.Met577Arg
ENST00000674046.1:c.1730T>G ENSP00000501174.1:p.Met577Arg
ENST00000379989.6:c.1730T>G ENSP00000369325.3:p.Met577Arg
ENST00000379996.7:c.1730T>G ENSP00000369332.3:p.Met577Arg
ENST00000463994.4:c.1730T>G ENSP00000485184.1:p.Met577Arg
ENST00000623535.1:c.1730T>G ENSP00000485244.1:p.Met577Arg
NM_001037343.1:c.1730T>G NP_001032420.1:p.Met577Arg
NM_003159.2:c.1730T>G NP_003150.1:p.Met577Arg
XM_011545569.1:c.1679T>G XP_011543871.1:p.Met560Arg
XM_011545570.1:c.1598T>G XP_011543872.1:p.Met533Arg
XR_950484.1:n.1982T>G
NM_001323289.1:c.1730T>G NP_001310218.1:p.Met577Arg
NM_001323289.2:c.1730T>G MANE Select NP_001310218.1:p.Met577Arg
NM_001037343.2:c.1730T>G NP_001032420.1:p.Met577Arg
NM_003159.3:c.1730T>G NP_003150.1:p.Met577Arg
Search 100 bp 5'
Search 100 bp 3'