Canonical Allele Identifier: CA171644
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143822
dbSNP Id: rs267608490

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18584312C>A , CM000685.2:g.18584312C>A GRCh38
NC_000023.10:g.18602432C>A , CM000685.1:g.18602432C>A GRCh37
NC_000023.9:g.18512353C>A NCBI36
NG_008475.1:g.163708C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.513C>A MANE Select ENSP00000485244.1:p.Tyr171Ter
ENST00000635828.1:c.513C>A ENSP00000490170.1:p.Tyr171Ter
ENST00000637881.1:c.513C>A ENSP00000489879.1:p.Tyr171Ter
ENST00000674046.1:c.513C>A ENSP00000501174.1:p.Tyr171Ter
ENST00000379989.6:c.513C>A ENSP00000369325.3:p.Tyr171Ter
ENST00000379996.7:c.513C>A ENSP00000369332.3:p.Tyr171Ter
ENST00000463994.4:c.513C>A ENSP00000485184.1:p.Tyr171Ter
ENST00000623535.1:c.513C>A ENSP00000485244.1:p.Tyr171Ter
NM_001037343.1:c.513C>A NP_001032420.1:p.Tyr171Ter
NM_003159.2:c.513C>A NP_003150.1:p.Tyr171Ter
XM_011545569.1:c.513C>A XP_011543871.1:p.Tyr171Ter
XM_011545570.1:c.381C>A XP_011543872.1:p.Tyr127Ter
XR_950484.1:n.765C>A
NM_001323289.1:c.513C>A NP_001310218.1:p.Tyr171Ter
NM_001323289.2:c.513C>A MANE Select NP_001310218.1:p.Tyr171Ter
NM_001037343.2:c.513C>A NP_001032420.1:p.Tyr171Ter
NM_003159.3:c.513C>A NP_003150.1:p.Tyr171Ter