Canonical Allele Identifier: CA349487952
Community Standard Title: NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548535C>A , CM000664.2:g.178548535C>A GRCh38
NC_000002.11:g.179413262C>A , CM000664.1:g.179413262C>A GRCh37
NC_000002.10:g.179121508C>A NCBI36
NG_011618.3:g.287268G>T , LRG_391:g.287268G>T
NG_051363.1:g.30709C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93091G>T (TTN) MANE Select NP_001254479.2:p.Gly31031Ter
ENST00000589042.5:c.93091G>T (TTN) MANE Select ENSP00000467141.1:p.Gly31031Ter
NM_001256850.1:c.88168G>T (TTN) NP_001243779.1:p.Gly29390Ter
NM_003319.4:c.65896G>T (TTN) NP_003310.4:p.Gly21966Ter
NM_133378.4:c.85387G>T (TTN) NP_596869.4:p.Gly28463Ter
NM_133432.3:c.66271G>T (TTN) NP_597676.3:p.Gly22091Ter
NM_133437.4:c.66472G>T (TTN) NP_597681.4:p.Gly22158Ter
NR_038271.1:n.447-22765C>A (TTN-AS1)
NR_038272.1:n.2043+6174C>A (TTN-AS1)
ENST00000342175.10:c.66472G>T (TTN) ENSP00000340554.6:p.Gly22158Ter
ENST00000342175.11:c.66472G>T (TTN) ENSP00000340554.6:p.Gly22158Ter
ENST00000342992.10:c.85387G>T (TTN) ENSP00000343764.6:p.Gly28463Ter
ENST00000342992.11:c.85387G>T (TTN) ENSP00000343764.6:p.Gly28463Ter
ENST00000359218.10:c.66271G>T (TTN) ENSP00000352154.5:p.Gly22091Ter
ENST00000359218.9:c.66271G>T (TTN) ENSP00000352154.5:p.Gly22091Ter
ENST00000460472.6:c.65896G>T (TTN) ENSP00000434586.1:p.Gly21966Ter
ENST00000591111.5:c.88168G>T (TTN) ENSP00000465570.1:p.Gly29390Ter
ENST00000615779.4:c.88168G>T (TTN) ENSP00000483597.1:p.Gly29390Ter
XM_011511729.1:c.92188G>T (TTN) XP_011510031.1:p.Gly30730Ter
XM_011511730.1:c.66082G>T (TTN) XP_011510032.1:p.Gly22028Ter
XM_011511731.1:c.65941G>T (TTN) XP_011510033.1:p.Gly21981Ter
XM_017004819.1:c.91984G>T (TTN) XP_016860308.1:p.Gly30662Ter
XM_017004820.1:c.87382G>T (TTN) XP_016860309.1:p.Gly29128Ter
XM_017004821.1:c.87379G>T (TTN) XP_016860310.1:p.Gly29127Ter
XM_017004822.1:c.84421G>T (TTN) XP_016860311.1:p.Gly28141Ter
XM_017004823.1:c.66037G>T (TTN) XP_016860312.1:p.Gly22013Ter
XM_024453094.1:c.87532G>T (TTN) XP_024308862.1:p.Gly29178Ter
XM_024453095.1:c.87529G>T (TTN) XP_024308863.1:p.Gly29177Ter
XM_024453096.1:c.86962G>T (TTN) XP_024308864.1:p.Gly28988Ter
XM_024453097.1:c.84304G>T (TTN) XP_024308865.1:p.Gly28102Ter
XM_024453098.1:c.84223G>T (TTN) XP_024308866.1:p.Gly28075Ter
XM_024453099.1:c.65986G>T (TTN) XP_024308867.1:p.Gly21996Ter
XM_024453100.1:c.55840G>T (TTN) XP_024308868.1:p.Gly18614Ter