Canonical Allele Identifier: CA349448771
Community Standard Title: NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543553G>T , CM000664.2:g.178543553G>T GRCh38
NC_000002.11:g.179408280G>T , CM000664.1:g.179408280G>T GRCh37
NC_000002.10:g.179116526G>T NCBI36
NG_011618.3:g.292250C>A , LRG_391:g.292250C>A
NG_051363.1:g.25727G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.96420C>A (TTN) MANE Select NP_001254479.2:p.Tyr32140Ter
ENST00000589042.5:c.96420C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr32140Ter
NM_001256850.1:c.91497C>A (TTN) NP_001243779.1:p.Tyr30499Ter
NM_003319.4:c.69225C>A (TTN) NP_003310.4:p.Tyr23075Ter
NM_133378.4:c.88716C>A (TTN) NP_596869.4:p.Tyr29572Ter
NM_133432.3:c.69600C>A (TTN) NP_597676.3:p.Tyr23200Ter
NM_133437.4:c.69801C>A (TTN) NP_597681.4:p.Tyr23267Ter
NR_038271.1:n.446+19917G>T (TTN-AS1)
NR_038272.1:n.2043+1192G>T (TTN-AS1)
ENST00000342175.10:c.69801C>A (TTN) ENSP00000340554.6:p.Tyr23267Ter
ENST00000342175.11:c.69801C>A (TTN) ENSP00000340554.6:p.Tyr23267Ter
ENST00000342992.10:c.88716C>A (TTN) ENSP00000343764.6:p.Tyr29572Ter
ENST00000342992.11:c.88716C>A (TTN) ENSP00000343764.6:p.Tyr29572Ter
ENST00000359218.10:c.69600C>A (TTN) ENSP00000352154.5:p.Tyr23200Ter
ENST00000359218.9:c.69600C>A (TTN) ENSP00000352154.5:p.Tyr23200Ter
ENST00000460472.6:c.69225C>A (TTN) ENSP00000434586.1:p.Tyr23075Ter
ENST00000591111.5:c.91497C>A (TTN) ENSP00000465570.1:p.Tyr30499Ter
ENST00000615779.4:c.91497C>A (TTN) ENSP00000483597.1:p.Tyr30499Ter
XM_011511729.1:c.95517C>A (TTN) XP_011510031.1:p.Tyr31839Ter
XM_011511730.1:c.69411C>A (TTN) XP_011510032.1:p.Tyr23137Ter
XM_011511731.1:c.69270C>A (TTN) XP_011510033.1:p.Tyr23090Ter
XM_017004819.1:c.95313C>A (TTN) XP_016860308.1:p.Tyr31771Ter
XM_017004820.1:c.90711C>A (TTN) XP_016860309.1:p.Tyr30237Ter
XM_017004821.1:c.90708C>A (TTN) XP_016860310.1:p.Tyr30236Ter
XM_017004822.1:c.87750C>A (TTN) XP_016860311.1:p.Tyr29250Ter
XM_017004823.1:c.69366C>A (TTN) XP_016860312.1:p.Tyr23122Ter
XM_024453094.1:c.90861C>A (TTN) XP_024308862.1:p.Tyr30287Ter
XM_024453095.1:c.90858C>A (TTN) XP_024308863.1:p.Tyr30286Ter
XM_024453096.1:c.90291C>A (TTN) XP_024308864.1:p.Tyr30097Ter
XM_024453097.1:c.87633C>A (TTN) XP_024308865.1:p.Tyr29211Ter
XM_024453098.1:c.87552C>A (TTN) XP_024308866.1:p.Tyr29184Ter
XM_024453099.1:c.69315C>A (TTN) XP_024308867.1:p.Tyr23105Ter
XM_024453100.1:c.59169C>A (TTN) XP_024308868.1:p.Tyr19723Ter