Canonical Allele Identifier: CA372732791
Community Standard Title: NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr)
Gene: TRAPPC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.139732041G>A , CM000670.2:g.139732041G>A GRCh38
NC_000008.10:g.140744284G>A , CM000670.1:g.140744284G>A GRCh37
NC_000008.9:g.140813466G>A NCBI36
NG_016478.2:g.731539C>T
NG_016478.3:g.731539C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001160372.4:c.3217C>T MANE Select NP_001153844.1:p.His1073Tyr
ENST00000438773.4:c.3217C>T MANE Select ENSP00000405060.3:p.His1073Tyr
NM_001160372.2:c.3217C>T NP_001153844.1:p.His1073Tyr
NM_001160372.3:c.3217C>T NP_001153844.1:p.His1073Tyr
NM_001321646.1:c.3190C>T NP_001308575.1:p.His1064Tyr
NM_001321646.2:c.3190C>T NP_001308575.1:p.His1064Tyr
NM_001374682.1:c.3238C>T NP_001361611.1:p.His1080Tyr
NM_001374683.1:c.3106C>T NP_001361612.1:p.His1036Tyr
NM_001374684.1:c.3073C>T NP_001361613.1:p.His1025Tyr
NM_031466.6:c.3511C>T NP_113654.4:p.His1171Tyr
NM_031466.7:c.3511C>T NP_113654.4:p.His1171Tyr
NM_031466.8:c.3217C>T NP_113654.5:p.His1073Tyr
NR_164662.1:n.3379C>T
ENST00000389328.8:c.3511C>T ENSP00000373979.4:p.His1171Tyr
ENST00000438773.2:c.3217C>T ENSP00000405060.2:p.His1073Tyr
ENST00000519482.1:n.304C>T
ENST00000520857.5:c.2747C>T
ENST00000521667.5:n.1622C>T
ENST00000521700.5:n.263C>T
ENST00000522504.5:n.370C>T
ENST00000648948.2:c.3217C>T ENSP00000498020.1:p.His1073Tyr
XM_005251077.3:c.3217C>T XP_005251134.1:p.His1073Tyr
XM_011517326.1:c.3484C>T XP_011515628.1:p.His1162Tyr
XM_011517326.2:c.3484C>T XP_011515628.1:p.His1162Tyr
XM_011517329.1:c.2605C>T XP_011515631.1:p.His869Tyr
XM_011517330.1:c.1666C>T XP_011515632.1:p.His556Tyr
XM_011517330.2:c.1666C>T XP_011515632.1:p.His556Tyr
XM_017013894.2:c.1837C>T XP_016869383.1:p.His613Tyr