Canonical Allele Identifier: CA349560198
Community Standard Title: NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561727A>C , CM000664.2:g.178561727A>C GRCh38
NC_000002.11:g.179426454A>C , CM000664.1:g.179426454A>C GRCh37
NC_000002.10:g.179134700A>C NCBI36
NG_011618.3:g.274076T>G , LRG_391:g.274076T>G
NG_051363.1:g.43901A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84405T>G (TTN) MANE Select NP_001254479.2:p.Tyr28135Ter
ENST00000589042.5:c.84405T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr28135Ter
NM_001256850.1:c.79482T>G (TTN) NP_001243779.1:p.Tyr26494Ter
NM_003319.4:c.57210T>G (TTN) NP_003310.4:p.Tyr19070Ter
NM_133378.4:c.76701T>G (TTN) NP_596869.4:p.Tyr25567Ter
NM_133432.3:c.57585T>G (TTN) NP_597676.3:p.Tyr19195Ter
NM_133437.4:c.57786T>G (TTN) NP_597681.4:p.Tyr19262Ter
NR_038271.1:n.447-9573A>C (TTN-AS1)
NR_038272.1:n.2043+19366A>C (TTN-AS1)
ENST00000342175.10:c.57786T>G (TTN) ENSP00000340554.6:p.Tyr19262Ter
ENST00000342175.11:c.57786T>G (TTN) ENSP00000340554.6:p.Tyr19262Ter
ENST00000342992.10:c.76701T>G (TTN) ENSP00000343764.6:p.Tyr25567Ter
ENST00000342992.11:c.76701T>G (TTN) ENSP00000343764.6:p.Tyr25567Ter
ENST00000359218.10:c.57585T>G (TTN) ENSP00000352154.5:p.Tyr19195Ter
ENST00000359218.9:c.57585T>G (TTN) ENSP00000352154.5:p.Tyr19195Ter
ENST00000460472.6:c.57210T>G (TTN) ENSP00000434586.1:p.Tyr19070Ter
ENST00000591111.5:c.79482T>G (TTN) ENSP00000465570.1:p.Tyr26494Ter
ENST00000615779.4:c.79482T>G (TTN) ENSP00000483597.1:p.Tyr26494Ter
XM_011511729.1:c.83502T>G (TTN) XP_011510031.1:p.Tyr27834Ter
XM_011511730.1:c.57396T>G (TTN) XP_011510032.1:p.Tyr19132Ter
XM_011511731.1:c.57255T>G (TTN) XP_011510033.1:p.Tyr19085Ter
XM_017004819.1:c.83298T>G (TTN) XP_016860308.1:p.Tyr27766Ter
XM_017004820.1:c.78696T>G (TTN) XP_016860309.1:p.Tyr26232Ter
XM_017004821.1:c.78693T>G (TTN) XP_016860310.1:p.Tyr26231Ter
XM_017004822.1:c.75735T>G (TTN) XP_016860311.1:p.Tyr25245Ter
XM_017004823.1:c.57351T>G (TTN) XP_016860312.1:p.Tyr19117Ter
XM_024453094.1:c.78846T>G (TTN) XP_024308862.1:p.Tyr26282Ter
XM_024453095.1:c.78843T>G (TTN) XP_024308863.1:p.Tyr26281Ter
XM_024453096.1:c.78276T>G (TTN) XP_024308864.1:p.Tyr26092Ter
XM_024453097.1:c.75618T>G (TTN) XP_024308865.1:p.Tyr25206Ter
XM_024453098.1:c.75537T>G (TTN) XP_024308866.1:p.Tyr25179Ter
XM_024453099.1:c.57300T>G (TTN) XP_024308867.1:p.Tyr19100Ter
XM_024453100.1:c.47154T>G (TTN) XP_024308868.1:p.Tyr15718Ter