Canonical Allele Identifier: CA116876
Gene: TIRAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4467
dbSNP Id: rs8177374

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126292948C>T , CM000673.2:g.126292948C>T GRCh38
NC_000011.9:g.126162843C>T , CM000673.1:g.126162843C>T GRCh37
NC_000011.8:g.125668053C>T NCBI36
NG_011523.1:g.14862C>T

Transcript Alleles

HGVS Amino-acid change
NM_001039661.1:c.539C>T VV NP_001034750.1:p.Ser180Leu
NM_148910.2:c.539C>T VV NP_683708.1:p.Ser180Leu
XM_005271399.2:c.866C>T XP_005271456.1:p.Ser289Leu
XM_011542576.1:c.539C>T XP_011540878.1:p.Ser180Leu
XM_011542577.1:c.707C>T XP_011540879.1:p.Ser236Leu
XM_011542578.1:c.539C>T XP_011540880.1:p.Ser180Leu
XM_011542579.1:c.539C>T XP_011540881.1:p.Ser180Leu
XM_011542580.1:c.539C>T XP_011540882.1:p.Ser180Leu
XM_011542581.1:c.539C>T XP_011540883.1:p.Ser180Leu
XM_011542582.1:c.539C>T XP_011540884.1:p.Ser180Leu
NM_001318776.1:c.539C>T VV NP_001305705.1:p.Ser180Leu
NM_001318777.1:c.539C>T VV NP_001305706.1:p.Ser180Leu
ENST00000392678.7:c.539C>T ENSP00000376445.3:p.Ser180Leu
ENST00000392679.5:c.539C>T ENSP00000376446.1:p.Ser180Leu
ENST00000392680.6:c.539C>T ENSP00000376447.2:p.Ser180Leu
ENST00000479770.1:c.539C>T ENSP00000436967.1:p.Ser180Leu