Canonical Allele Identifier: CA349424114
Community Standard Title: NM_001267550.2(TTN):c.67272C>A (p.Tyr22424Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580015G>T , CM000664.2:g.178580015G>T GRCh38
NC_000002.11:g.179444742G>T , CM000664.1:g.179444742G>T GRCh37
NC_000002.10:g.179152988G>T NCBI36
NG_011618.3:g.255788C>A , LRG_391:g.255788C>A
NG_051363.1:g.62189G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67272C>A (TTN) MANE Select NP_001254479.2:p.Tyr22424Ter
ENST00000589042.5:c.67272C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr22424Ter
NM_001256850.1:c.62349C>A (TTN) NP_001243779.1:p.Tyr20783Ter
NM_003319.4:c.40077C>A (TTN) NP_003310.4:p.Tyr13359Ter
NM_133378.4:c.59568C>A (TTN) NP_596869.4:p.Tyr19856Ter
NM_133432.3:c.40452C>A (TTN) NP_597676.3:p.Tyr13484Ter
NM_133437.4:c.40653C>A (TTN) NP_597681.4:p.Tyr13551Ter
NR_038271.1:n.596+8566G>T (TTN-AS1)
NR_038272.1:n.2044-2557G>T (TTN-AS1)
ENST00000342175.10:c.40653C>A (TTN) ENSP00000340554.6:p.Tyr13551Ter
ENST00000342175.11:c.40653C>A (TTN) ENSP00000340554.6:p.Tyr13551Ter
ENST00000342992.10:c.59568C>A (TTN) ENSP00000343764.6:p.Tyr19856Ter
ENST00000342992.11:c.59568C>A (TTN) ENSP00000343764.6:p.Tyr19856Ter
ENST00000359218.10:c.40452C>A (TTN) ENSP00000352154.5:p.Tyr13484Ter
ENST00000359218.9:c.40452C>A (TTN) ENSP00000352154.5:p.Tyr13484Ter
ENST00000460472.6:c.40077C>A (TTN) ENSP00000434586.1:p.Tyr13359Ter
ENST00000591111.5:c.62349C>A (TTN) ENSP00000465570.1:p.Tyr20783Ter
ENST00000615779.4:c.62349C>A (TTN) ENSP00000483597.1:p.Tyr20783Ter
XM_011511729.1:c.66369C>A (TTN) XP_011510031.1:p.Tyr22123Ter
XM_011511730.1:c.40263C>A (TTN) XP_011510032.1:p.Tyr13421Ter
XM_011511731.1:c.40122C>A (TTN) XP_011510033.1:p.Tyr13374Ter
XM_017004819.1:c.66165C>A (TTN) XP_016860308.1:p.Tyr22055Ter
XM_017004820.1:c.61563C>A (TTN) XP_016860309.1:p.Tyr20521Ter
XM_017004821.1:c.61560C>A (TTN) XP_016860310.1:p.Tyr20520Ter
XM_017004822.1:c.58602C>A (TTN) XP_016860311.1:p.Tyr19534Ter
XM_017004823.1:c.40218C>A (TTN) XP_016860312.1:p.Tyr13406Ter
XM_024453094.1:c.61713C>A (TTN) XP_024308862.1:p.Tyr20571Ter
XM_024453095.1:c.61710C>A (TTN) XP_024308863.1:p.Tyr20570Ter
XM_024453096.1:c.61143C>A (TTN) XP_024308864.1:p.Tyr20381Ter
XM_024453097.1:c.58485C>A (TTN) XP_024308865.1:p.Tyr19495Ter
XM_024453098.1:c.58404C>A (TTN) XP_024308866.1:p.Tyr19468Ter
XM_024453099.1:c.40167C>A (TTN) XP_024308867.1:p.Tyr13389Ter
XM_024453100.1:c.30021C>A (TTN) XP_024308868.1:p.Tyr10007Ter