Canonical Allele Identifier: CA846687

Gene: TTC39A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.51288180T>C , CM000663.2:g.51288180T>C	GRCh38
NC_000001.10:g.51753852T>C , CM000663.1:g.51753852T>C	GRCh37
NC_000001.9:g.51526440T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422925.6:c.1630A>G	ENSP00000388995.2:p.Met544Val
ENST00000439482.6:c.1816A>G	ENSP00000405803.2:p.Met606Val
ENST00000680290.1:c.1735A>G	ENSP00000505465.1:p.Met579Val
ENST00000680460.1:c.*1340A>G	ENSP00000505535.1:n.*1340A>G
ENST00000680483.1:c.1711A>G MANE Select	ENSP00000505859.1:p.Met571Val
ENST00000262675.11:c.1630A>G	ENSP00000262675.7:p.Met544Val
ENST00000371750.9:c.1714A>G	ENSP00000360815.5:p.Met572Val
ENST00000413473.6:c.1723A>G	ENSP00000406144.2:p.Met575Val
ENST00000447632.6:c.1819A>G	ENSP00000393952.2:p.Met607Val
ENST00000530004.5:c.643A>G	ENSP00000431228.1:p.Met215Val
ENST00000534098.1:n.736A>G
NM_001080494.3:c.1714A>G	NP_001073963.1:p.Met572Val
NM_001144832.2:c.1723A>G	NP_001138304.1:p.Met575Val
NM_001297663.1:c.1711A>G	NP_001284592.1:p.Met571Val
NM_001297664.1:c.1630A>G	NP_001284593.1:p.Met544Val
NM_001297665.1:c.1819A>G	NP_001284594.1:p.Met607Val
NM_001297666.1:c.643A>G	NP_001284595.1:p.Met215Val
NM_001297667.1:c.442A>G	NP_001284596.1:p.Met148Val
XM_005270644.1:c.1702A>G	XP_005270701.1:p.Met568Val
XM_006710471.1:c.1807A>G	XP_006710534.1:p.Met603Val
XM_011541048.1:c.1828A>G	XP_011539350.1:p.Met610Val
XM_011541049.1:c.1822A>G	XP_011539351.1:p.Met608Val
XM_011541050.1:c.1816A>G	XP_011539352.1:p.Met606Val
XM_011541051.1:c.1735A>G	XP_011539353.1:p.Met579Val
XM_011541052.1:c.1735A>G	XP_011539354.1:p.Met579Val
XM_011541053.1:c.1735A>G	XP_011539355.1:p.Met579Val
XM_011541054.1:c.1630A>G	XP_011539356.1:p.Met544Val
XM_005270644.2:c.1702A>G	XP_005270701.1:p.Met568Val
XM_006710471.2:c.1807A>G	XP_006710534.1:p.Met603Val
XM_011541048.2:c.1828A>G	XP_011539350.1:p.Met610Val
XM_011541049.2:c.1822A>G	XP_011539351.1:p.Met608Val
XM_011541050.2:c.1816A>G	XP_011539352.1:p.Met606Val
XM_011541051.2:c.1735A>G	XP_011539353.1:p.Met579Val
XM_011541052.2:c.1735A>G	XP_011539354.1:p.Met579Val
XM_011541053.2:c.1735A>G	XP_011539355.1:p.Met579Val
XM_011541054.2:c.1630A>G	XP_011539356.1:p.Met544Val
XM_017000715.2:c.1630A>G	XP_016856204.1:p.Met544Val
NM_001297663.2:c.1711A>G MANE Select	NP_001284592.1:p.Met571Val