Canonical Allele Identifier: CA383233874
Gene: TIRAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126292953C>G , CM000673.2:g.126292953C>G GRCh38
NC_000011.9:g.126162848C>G , CM000673.1:g.126162848C>G GRCh37
NC_000011.8:g.125668058C>G NCBI36
NG_011523.1:g.14867C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000479770.2:c.544C>G ENSP00000436967.1:p.Leu182Val
ENST00000700488.1:c.544C>G ENSP00000515016.1:p.Leu182Val
ENST00000700489.1:c.544C>G ENSP00000515017.1:p.Leu182Val
ENST00000700490.1:c.544C>G ENSP00000515018.1:p.Leu182Val
ENST00000700491.1:c.544C>G ENSP00000515019.1:p.Leu182Val
ENST00000700492.1:c.544C>G ENSP00000515021.1:p.Leu182Val
ENST00000700493.1:n.2189C>G
ENST00000700494.1:n.1799C>G
ENST00000700495.1:c.68-715C>G ENSP00000515022.1:n.68-715C>G
ENST00000700496.1:n.619C>G
ENST00000392679.6:c.544C>G MANE Select ENSP00000376446.1:p.Leu182Val
ENST00000392678.7:c.544C>G ENSP00000376445.3:p.Leu182Val
ENST00000392679.5:c.544C>G ENSP00000376446.1:p.Leu182Val
ENST00000392680.6:c.544C>G ENSP00000376447.2:p.Leu182Val
ENST00000479770.1:c.544C>G ENSP00000436967.1:p.Leu182Val
NM_001039661.1:c.544C>G NP_001034750.1:p.Leu182Val
NM_148910.2:c.544C>G NP_683708.1:p.Leu182Val
XM_005271399.2:c.871C>G XP_005271456.1:p.Leu291Val
XM_011542576.1:c.544C>G XP_011540878.1:p.Leu182Val
XM_011542577.1:c.712C>G XP_011540879.1:p.Leu238Val
XM_011542578.1:c.544C>G XP_011540880.1:p.Leu182Val
XM_011542579.1:c.544C>G XP_011540881.1:p.Leu182Val
XM_011542580.1:c.544C>G XP_011540882.1:p.Leu182Val
XM_011542581.1:c.544C>G XP_011540883.1:p.Leu182Val
XM_011542582.1:c.544C>G XP_011540884.1:p.Leu182Val
NM_001318776.1:c.544C>G NP_001305705.1:p.Leu182Val
NM_001318777.1:c.544C>G NP_001305706.1:p.Leu182Val
NM_001039661.2:c.544C>G NP_001034750.1:p.Leu182Val
NM_001318776.2:c.544C>G NP_001305705.1:p.Leu182Val
NM_001318777.2:c.544C>G MANE Select NP_001305706.1:p.Leu182Val
NM_148910.3:c.544C>G NP_683708.1:p.Leu182Val