Canonical Allele Identifier: CA372736938
Community Standard Title: NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile)
Gene: TRAPPC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.139988795G>A , CM000670.2:g.139988795G>A GRCh38
NC_000008.10:g.140999003G>A , CM000670.1:g.140999003G>A GRCh37
NC_000008.9:g.141068185G>A NCBI36
NG_016478.2:g.474785C>T
NG_016478.3:g.474785C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001160372.4:c.2741C>T MANE Select NP_001153844.1:p.Thr914Ile
ENST00000438773.4:c.2741C>T MANE Select ENSP00000405060.3:p.Thr914Ile
NM_001160372.2:c.2741C>T NP_001153844.1:p.Thr914Ile
NM_001160372.3:c.2741C>T NP_001153844.1:p.Thr914Ile
NM_001321646.1:c.2714C>T NP_001308575.1:p.Thr905Ile
NM_001321646.2:c.2714C>T NP_001308575.1:p.Thr905Ile
NM_001374682.1:c.2762C>T NP_001361611.1:p.Thr921Ile
NM_001374683.1:c.2699+35142C>T NP_001361612.1:n.2699+35142C>T
NM_001374684.1:c.2597C>T NP_001361613.1:p.Thr866Ile
NM_031466.6:c.3035C>T NP_113654.4:p.Thr1012Ile
NM_031466.7:c.3035C>T NP_113654.4:p.Thr1012Ile
NM_031466.8:c.2741C>T NP_113654.5:p.Thr914Ile
NR_164662.1:n.2830C>T
ENST00000389328.8:c.3035C>T ENSP00000373979.4:p.Thr1012Ile
ENST00000438773.2:c.2741C>T ENSP00000405060.2:p.Thr914Ile
ENST00000517667.5:n.463C>T
ENST00000520857.5:c.2271C>T
ENST00000521667.5:n.1146C>T
ENST00000523777.5:n.350C>T
ENST00000524162.5:n.167C>T
ENST00000648948.2:c.2741C>T ENSP00000498020.1:p.Thr914Ile
XM_005251077.3:c.2741C>T XP_005251134.1:p.Thr914Ile
XM_011517326.1:c.3008C>T XP_011515628.1:p.Thr1003Ile
XM_011517326.2:c.3008C>T XP_011515628.1:p.Thr1003Ile
XM_011517327.1:c.3035C>T XP_011515629.1:p.Thr1012Ile
XM_011517328.1:c.3035C>T XP_011515630.1:p.Thr1012Ile
XM_011517328.2:c.3035C>T XP_011515630.1:p.Thr1012Ile
XM_011517329.1:c.2129C>T XP_011515631.1:p.Thr710Ile
XM_011517330.1:c.1190C>T XP_011515632.1:p.Thr397Ile
XM_011517330.2:c.1190C>T XP_011515632.1:p.Thr397Ile
XM_017013894.2:c.1361C>T XP_016869383.1:p.Thr454Ile
XR_928355.1:n.3105C>T
XR_928355.2:n.3105C>T