Canonical Allele Identifier: CA383232737
Gene: TIRAP HGNC NCBI
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126292695G>C , CM000673.2:g.126292695G>C GRCh38
NC_000011.9:g.126162590G>C , CM000673.1:g.126162590G>C GRCh37
NC_000011.8:g.125667800G>C NCBI36
NG_011523.1:g.14609G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000479770.2:c.286G>C ENSP00000436967.1:p.Asp96His
ENST00000700488.1:c.286G>C ENSP00000515016.1:p.Asp96His
ENST00000700489.1:c.286G>C ENSP00000515017.1:p.Asp96His
ENST00000700490.1:c.286G>C ENSP00000515018.1:p.Asp96His
ENST00000700491.1:c.286G>C ENSP00000515019.1:p.Asp96His
ENST00000700492.1:c.286G>C ENSP00000515021.1:p.Asp96His
ENST00000700493.1:n.1931G>C
ENST00000700494.1:n.1541G>C
ENST00000700495.1:c.68-973G>C ENSP00000515022.1:n.68-973G>C
ENST00000700496.1:n.361G>C
ENST00000392679.6:c.286G>C MANE Select ENSP00000376446.1:p.Asp96His
ENST00000392678.7:c.286G>C ENSP00000376445.3:p.Asp96His
ENST00000392679.5:c.286G>C ENSP00000376446.1:p.Asp96His
ENST00000392680.6:c.286G>C ENSP00000376447.2:p.Asp96His
ENST00000479770.1:c.286G>C ENSP00000436967.1:p.Asp96His
NM_001039661.1:c.286G>C NP_001034750.1:p.Asp96His
NM_148910.2:c.286G>C NP_683708.1:p.Asp96His
XM_005271399.2:c.613G>C XP_005271456.1:p.Asp205His
XM_011542576.1:c.286G>C XP_011540878.1:p.Asp96His
XM_011542577.1:c.454G>C XP_011540879.1:p.Asp152His
XM_011542578.1:c.286G>C XP_011540880.1:p.Asp96His
XM_011542579.1:c.286G>C XP_011540881.1:p.Asp96His
XM_011542580.1:c.286G>C XP_011540882.1:p.Asp96His
XM_011542581.1:c.286G>C XP_011540883.1:p.Asp96His
XM_011542582.1:c.286G>C XP_011540884.1:p.Asp96His
NM_001318776.1:c.286G>C NP_001305705.1:p.Asp96His
NM_001318777.1:c.286G>C NP_001305706.1:p.Asp96His
NM_001039661.2:c.286G>C NP_001034750.1:p.Asp96His
NM_001318776.2:c.286G>C NP_001305705.1:p.Asp96His
NM_001318777.2:c.286G>C MANE Select NP_001305706.1:p.Asp96His
NM_148910.3:c.286G>C NP_683708.1:p.Asp96His