Canonical Allele Identifier: CA412362038
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs1238057698
MyVariant Identifiers: chrX:g.18622675C>T (hg19) chrX:g.18604555C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604555C>T , CM000685.2:g.18604555C>T GRCh38
NC_000023.10:g.18622675C>T , CM000685.1:g.18622675C>T GRCh37
NC_000023.9:g.18532596C>T NCBI36
NG_008475.1:g.183951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1631C>T MANE Select ENSP00000485244.1:p.Pro544Leu
ENST00000635828.1:c.1631C>T ENSP00000490170.1:p.Pro544Leu
ENST00000674046.1:c.1631C>T ENSP00000501174.1:p.Pro544Leu
ENST00000379989.6:c.1631C>T ENSP00000369325.3:p.Pro544Leu
ENST00000379996.7:c.1631C>T ENSP00000369332.3:p.Pro544Leu
ENST00000463994.4:c.1631C>T ENSP00000485184.1:p.Pro544Leu
ENST00000623535.1:c.1631C>T ENSP00000485244.1:p.Pro544Leu
NM_001037343.1:c.1631C>T NP_001032420.1:p.Pro544Leu
NM_003159.2:c.1631C>T NP_003150.1:p.Pro544Leu
XM_011545569.1:c.1580C>T XP_011543871.1:p.Pro527Leu
XM_011545570.1:c.1499C>T XP_011543872.1:p.Pro500Leu
XR_950484.1:n.1883C>T
NM_001323289.1:c.1631C>T NP_001310218.1:p.Pro544Leu
NM_001323289.2:c.1631C>T MANE Select NP_001310218.1:p.Pro544Leu
NM_001037343.2:c.1631C>T NP_001032420.1:p.Pro544Leu
NM_003159.3:c.1631C>T NP_003150.1:p.Pro544Leu
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