Canonical Allele Identifier: CA372318830
Community Standard Title: NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
Gene: TRAPPC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.140451135A>G , CM000670.2:g.140451135A>G GRCh38
NC_000008.10:g.141461234A>G , CM000670.1:g.141461234A>G GRCh37
NC_000008.9:g.141530416A>G NCBI36
NG_016478.2:g.12445T>C
NG_016478.3:g.12445T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001160372.4:c.239T>C MANE Select NP_001153844.1:p.Leu80Pro
ENST00000438773.4:c.239T>C MANE Select ENSP00000405060.3:p.Leu80Pro
NM_001160372.2:c.239T>C NP_001153844.1:p.Leu80Pro
NM_001160372.3:c.239T>C NP_001153844.1:p.Leu80Pro
NM_001321646.1:c.239T>C NP_001308575.1:p.Leu80Pro
NM_001321646.2:c.239T>C NP_001308575.1:p.Leu80Pro
NM_001374682.1:c.239T>C NP_001361611.1:p.Leu80Pro
NM_001374683.1:c.239T>C NP_001361612.1:p.Leu80Pro
NM_001374684.1:c.239T>C NP_001361613.1:p.Leu80Pro
NM_031466.6:c.533T>C NP_113654.4:p.Leu178Pro
NM_031466.7:c.533T>C NP_113654.4:p.Leu178Pro
NM_031466.8:c.239T>C NP_113654.5:p.Leu80Pro
NR_164662.1:n.355T>C
ENST00000389328.8:c.533T>C ENSP00000373979.4:p.Leu178Pro
ENST00000438773.2:c.239T>C ENSP00000405060.2:p.Leu80Pro
ENST00000648948.2:c.239T>C ENSP00000498020.1:p.Leu80Pro
XM_005251077.3:c.239T>C XP_005251134.1:p.Leu80Pro
XM_011517326.1:c.533T>C XP_011515628.1:p.Leu178Pro
XM_011517326.2:c.533T>C XP_011515628.1:p.Leu178Pro
XM_011517327.1:c.533T>C XP_011515629.1:p.Leu178Pro
XM_011517328.1:c.533T>C XP_011515630.1:p.Leu178Pro
XM_011517328.2:c.533T>C XP_011515630.1:p.Leu178Pro
XM_017013893.1:c.533T>C XP_016869382.1:p.Leu178Pro
XR_928355.1:n.548T>C
XR_928355.2:n.548T>C