Canonical Allele Identifier: CA10360394
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 434664
dbSNP Id: rs781427744
gnomAD v2: X-18622608-T-G
gnomAD v3: X-18604488-T-G
gnomAD v4: X-18604488-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604488T>G , CM000685.2:g.18604488T>G GRCh38
NC_000023.10:g.18622608T>G , CM000685.1:g.18622608T>G GRCh37
NC_000023.9:g.18532529T>G NCBI36
NG_008475.1:g.183884T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1564T>G MANE Select ENSP00000485244.1:p.Leu522Val
ENST00000635828.1:c.1564T>G ENSP00000490170.1:p.Leu522Val
ENST00000674046.1:c.1564T>G ENSP00000501174.1:p.Leu522Val
ENST00000379989.6:c.1564T>G ENSP00000369325.3:p.Leu522Val
ENST00000379996.7:c.1564T>G ENSP00000369332.3:p.Leu522Val
ENST00000463994.4:c.1564T>G ENSP00000485184.1:p.Leu522Val
ENST00000623535.1:c.1564T>G ENSP00000485244.1:p.Leu522Val
NM_001037343.1:c.1564T>G NP_001032420.1:p.Leu522Val
NM_003159.2:c.1564T>G NP_003150.1:p.Leu522Val
XM_011545569.1:c.1513T>G XP_011543871.1:p.Leu505Val
XM_011545570.1:c.1432T>G XP_011543872.1:p.Leu478Val
XR_950484.1:n.1816T>G
NM_001323289.1:c.1564T>G NP_001310218.1:p.Leu522Val
NM_001323289.2:c.1564T>G MANE Select NP_001310218.1:p.Leu522Val
NM_001037343.2:c.1564T>G NP_001032420.1:p.Leu522Val
NM_003159.3:c.1564T>G NP_003150.1:p.Leu522Val