Canonical Allele Identifier: CA2228925
Community Standard Title: NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.3148095A>G , CM000665.2:g.3148095A>G GRCh38
NC_000003.11:g.3189779A>G , CM000665.1:g.3189779A>G GRCh37
NC_000003.10:g.3164779A>G NCBI36
NG_016864.1:g.36623T>C
NG_041800.1:g.26180A>G
NG_041800.2:g.26180A>G
NG_016864.2:g.36623T>C

Transcript Alleles

HGVS Amino-acid Change
NM_182916.3:c.1246A>G (TRNT1) MANE Select NP_886552.3:p.Lys416Glu
ENST00000251607.11:c.1246A>G (TRNT1) MANE Select ENSP00000251607.6:p.Lys416Glu
NM_001302946.1:c.1186A>G (TRNT1) NP_001289875.1:p.Lys396Glu
NM_001302946.2:c.1186A>G (TRNT1) NP_001289875.2:p.Lys396Glu
NM_001367321.1:c.1246A>G (TRNT1) NP_001354250.1:p.Lys416Glu
NM_001367322.1:c.1246A>G (TRNT1) NP_001354251.1:p.Lys416Glu
NM_001367323.1:c.1246A>G (TRNT1) NP_001354252.1:p.Lys416Glu
NM_182916.2:c.1246A>G (TRNT1) NP_886552.2:p.Lys416Glu
NR_159934.1:n.1324A>G (TRNT1)
NR_159935.1:n.1324A>G (TRNT1)
NR_159936.1:n.1130A>G (TRNT1)
NR_159937.1:n.2366A>G (TRNT1)
NR_159938.1:n.1130A>G (TRNT1)
NR_159939.1:n.1185A>G (TRNT1)
NR_159940.1:n.1199A>G (TRNT1)
NR_159941.1:n.2366A>G (TRNT1)
ENST00000251607.10:c.1246A>G (TRNT1) ENSP00000251607.6:p.Lys416Glu
ENST00000280591.10:c.1186A>G (TRNT1) ENSP00000280591.6:p.Lys396Glu
ENST00000434583.5:c.1246A>G (TRNT1) ENSP00000415100.1:p.Lys416Glu
ENST00000639284.1:c.1312-2596T>C (CRBN) ENSP00000491442.1:n.1312-2596T>C
ENST00000650755.1:c.*896A>G (TRNT1) ENSP00000499122.1:n.*896A>G
ENST00000650814.1:c.946A>G (TRNT1)
ENST00000650839.1:c.*618A>G (TRNT1) ENSP00000498970.1:n.*618A>G
ENST00000650989.1:n.793A>G (TRNT1)
ENST00000651093.1:c.*431A>G (TRNT1) ENSP00000498942.1:n.*431A>G
ENST00000651316.1:c.*591A>G (TRNT1) ENSP00000498787.1:n.*591A>G
ENST00000651352.1:c.*717A>G (TRNT1) ENSP00000498449.1:n.*717A>G
ENST00000651591.1:c.*976A>G (TRNT1) ENSP00000498240.1:n.*976A>G
ENST00000652340.1:c.1039A>G (TRNT1) ENSP00000498624.1:n.1039A>G
ENST00000698406.1:c.1246A>G (TRNT1) ENSP00000513700.1:p.Lys416Glu
ENST00000698407.1:n.1875A>G (TRNT1)
ENST00000698408.1:c.1246A>G (TRNT1) ENSP00000513701.1:p.Lys416Glu
ENST00000698410.1:c.*717A>G (TRNT1) ENSP00000513703.1:n.*717A>G
ENST00000698412.1:c.1246A>G (TRNT1) ENSP00000513705.1:p.Lys416Glu
ENST00000698413.1:c.1363A>G (TRNT1) ENSP00000513706.1:p.Lys455Glu
ENST00000698414.1:c.1363A>G (TRNT1) ENSP00000513707.1:p.Lys455Glu
ENST00000698415.1:n.2607A>G (TRNT1)
ENST00000698416.1:n.1510A>G (TRNT1)
XM_005265196.1:c.1246A>G (TRNT1) XP_005265253.1:p.Lys416Glu
XM_011533776.1:c.1246A>G (TRNT1) XP_011532078.1:p.Lys416Glu
XM_011533776.3:c.1246A>G (TRNT1) XP_011532078.1:p.Lys416Glu
XM_011533777.1:c.1246A>G (TRNT1) XP_011532079.1:p.Lys416Glu
XM_011533777.2:c.1246A>G (TRNT1) XP_011532079.1:p.Lys416Glu
XM_011533778.1:c.1246A>G (TRNT1) XP_011532080.1:p.Lys416Glu
XM_011533778.3:c.1246A>G (TRNT1) XP_011532080.1:p.Lys416Glu
XR_001740168.2:n.1327A>G (TRNT1)
XR_001740169.2:n.1327A>G (TRNT1)
XR_940445.1:n.1348A>G (TRNT1)
XR_940445.3:n.1327A>G (TRNT1)
XR_940446.1:n.1348A>G (TRNT1)
XR_940446.3:n.1327A>G (TRNT1)