Canonical Allele Identifier: CA846786
Community Standard Title: NM_001297663.2(TTC39A):c.1322C>T (p.Thr441Met)
Gene: TTC39A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.51290570G>A , CM000663.2:g.51290570G>A GRCh38
NC_000001.10:g.51756242G>A , CM000663.1:g.51756242G>A GRCh37
NC_000001.9:g.51528830G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001297663.2:c.1322C>T MANE Select NP_001284592.1:p.Thr441Met
ENST00000680483.1:c.1322C>T MANE Select ENSP00000505859.1:p.Thr441Met
NM_001080494.3:c.1325C>T NP_001073963.1:p.Thr442Met
NM_001144832.2:c.1334C>T NP_001138304.1:p.Thr445Met
NM_001297663.1:c.1322C>T NP_001284592.1:p.Thr441Met
NM_001297664.1:c.1241C>T NP_001284593.1:p.Thr414Met
NM_001297665.1:c.1430C>T NP_001284594.1:p.Thr477Met
NM_001297666.1:c.254C>T NP_001284595.1:p.Thr85Met
NM_001297667.1:c.53C>T NP_001284596.1:p.Thr18Met
ENST00000262675.11:c.1241C>T ENSP00000262675.7:p.Thr414Met
ENST00000371750.9:c.1325C>T ENSP00000360815.5:p.Thr442Met
ENST00000413473.6:c.1334C>T ENSP00000406144.2:p.Thr445Met
ENST00000422925.6:c.1241C>T ENSP00000388995.2:p.Thr414Met
ENST00000439482.6:c.1427C>T ENSP00000405803.2:p.Thr476Met
ENST00000447632.6:c.1430C>T ENSP00000393952.2:p.Thr477Met
ENST00000525906.1:c.254C>T ENSP00000436659.1:p.Thr85Met
ENST00000530004.5:c.254C>T ENSP00000431228.1:p.Thr85Met
ENST00000534098.1:n.347C>T
ENST00000680290.1:c.1346C>T ENSP00000505465.1:p.Thr449Met
ENST00000680460.1:c.*951C>T ENSP00000505535.1:n.*951C>T
XM_005270644.1:c.1313C>T XP_005270701.1:p.Thr438Met
XM_005270644.2:c.1313C>T XP_005270701.1:p.Thr438Met
XM_006710471.1:c.1418C>T XP_006710534.1:p.Thr473Met
XM_006710471.2:c.1418C>T XP_006710534.1:p.Thr473Met
XM_011541048.1:c.1439C>T XP_011539350.1:p.Thr480Met
XM_011541048.2:c.1439C>T XP_011539350.1:p.Thr480Met
XM_011541049.1:c.1433C>T XP_011539351.1:p.Thr478Met
XM_011541049.2:c.1433C>T XP_011539351.1:p.Thr478Met
XM_011541050.1:c.1427C>T XP_011539352.1:p.Thr476Met
XM_011541050.2:c.1427C>T XP_011539352.1:p.Thr476Met
XM_011541051.1:c.1346C>T XP_011539353.1:p.Thr449Met
XM_011541051.2:c.1346C>T XP_011539353.1:p.Thr449Met
XM_011541052.1:c.1346C>T XP_011539354.1:p.Thr449Met
XM_011541052.2:c.1346C>T XP_011539354.1:p.Thr449Met
XM_011541053.1:c.1346C>T XP_011539355.1:p.Thr449Met
XM_011541053.2:c.1346C>T XP_011539355.1:p.Thr449Met
XM_011541054.1:c.1241C>T XP_011539356.1:p.Thr414Met
XM_011541054.2:c.1241C>T XP_011539356.1:p.Thr414Met
XM_017000715.2:c.1241C>T XP_016856204.1:p.Thr414Met