Canonical Allele Identifier: CA349425084
Community Standard Title: NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580398A>C , CM000664.2:g.178580398A>C GRCh38
NC_000002.11:g.179445125A>C , CM000664.1:g.179445125A>C GRCh37
NC_000002.10:g.179153371A>C NCBI36
NG_011618.3:g.255405T>G , LRG_391:g.255405T>G
NG_051363.1:g.62572A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66981T>G (TTN) MANE Select NP_001254479.2:p.Tyr22327Ter
ENST00000589042.5:c.66981T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr22327Ter
NM_001256850.1:c.62058T>G (TTN) NP_001243779.1:p.Tyr20686Ter
NM_003319.4:c.39786T>G (TTN) NP_003310.4:p.Tyr13262Ter
NM_133378.4:c.59277T>G (TTN) NP_596869.4:p.Tyr19759Ter
NM_133432.3:c.40161T>G (TTN) NP_597676.3:p.Tyr13387Ter
NM_133437.4:c.40362T>G (TTN) NP_597681.4:p.Tyr13454Ter
NR_038271.1:n.596+8949A>C (TTN-AS1)
NR_038272.1:n.2044-2174A>C (TTN-AS1)
ENST00000342175.10:c.40362T>G (TTN) ENSP00000340554.6:p.Tyr13454Ter
ENST00000342175.11:c.40362T>G (TTN) ENSP00000340554.6:p.Tyr13454Ter
ENST00000342992.10:c.59277T>G (TTN) ENSP00000343764.6:p.Tyr19759Ter
ENST00000342992.11:c.59277T>G (TTN) ENSP00000343764.6:p.Tyr19759Ter
ENST00000359218.10:c.40161T>G (TTN) ENSP00000352154.5:p.Tyr13387Ter
ENST00000359218.9:c.40161T>G (TTN) ENSP00000352154.5:p.Tyr13387Ter
ENST00000460472.6:c.39786T>G (TTN) ENSP00000434586.1:p.Tyr13262Ter
ENST00000591111.5:c.62058T>G (TTN) ENSP00000465570.1:p.Tyr20686Ter
ENST00000615779.4:c.62058T>G (TTN) ENSP00000483597.1:p.Tyr20686Ter
XM_011511729.1:c.66078T>G (TTN) XP_011510031.1:p.Tyr22026Ter
XM_011511730.1:c.39972T>G (TTN) XP_011510032.1:p.Tyr13324Ter
XM_011511731.1:c.39831T>G (TTN) XP_011510033.1:p.Tyr13277Ter
XM_017004819.1:c.65874T>G (TTN) XP_016860308.1:p.Tyr21958Ter
XM_017004820.1:c.61272T>G (TTN) XP_016860309.1:p.Tyr20424Ter
XM_017004821.1:c.61269T>G (TTN) XP_016860310.1:p.Tyr20423Ter
XM_017004822.1:c.58311T>G (TTN) XP_016860311.1:p.Tyr19437Ter
XM_017004823.1:c.39927T>G (TTN) XP_016860312.1:p.Tyr13309Ter
XM_024453094.1:c.61422T>G (TTN) XP_024308862.1:p.Tyr20474Ter
XM_024453095.1:c.61419T>G (TTN) XP_024308863.1:p.Tyr20473Ter
XM_024453096.1:c.60852T>G (TTN) XP_024308864.1:p.Tyr20284Ter
XM_024453097.1:c.58194T>G (TTN) XP_024308865.1:p.Tyr19398Ter
XM_024453098.1:c.58113T>G (TTN) XP_024308866.1:p.Tyr19371Ter
XM_024453099.1:c.39876T>G (TTN) XP_024308867.1:p.Tyr13292Ter
XM_024453100.1:c.29730T>G (TTN) XP_024308868.1:p.Tyr9910Ter