Canonical Allele Identifier: CA349598721
Community Standard Title: NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612362A>C , CM000664.2:g.178612362A>C GRCh38
NC_000002.11:g.179477089A>C , CM000664.1:g.179477089A>C GRCh37
NC_000002.10:g.179185334A>C NCBI36
NG_011618.3:g.223441T>G , LRG_391:g.223441T>G
NG_051363.1:g.94536A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50163T>G (TTN) MANE Select NP_001254479.2:p.Tyr16721Ter
ENST00000589042.5:c.50163T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr16721Ter
NM_001256850.1:c.45240T>G (TTN) NP_001243779.1:p.Tyr15080Ter
NM_003319.4:c.22968T>G (TTN) NP_003310.4:p.Tyr7656Ter
NM_133378.4:c.42459T>G (TTN) NP_596869.4:p.Tyr14153Ter
NM_133432.3:c.23343T>G (TTN) NP_597676.3:p.Tyr7781Ter
NM_133437.4:c.23544T>G (TTN) NP_597681.4:p.Tyr7848Ter
NR_038271.1:n.783-1673A>C (TTN-AS1)
ENST00000342175.10:c.23544T>G (TTN) ENSP00000340554.6:p.Tyr7848Ter
ENST00000342175.11:c.23544T>G (TTN) ENSP00000340554.6:p.Tyr7848Ter
ENST00000342992.10:c.42459T>G (TTN) ENSP00000343764.6:p.Tyr14153Ter
ENST00000342992.11:c.42459T>G (TTN) ENSP00000343764.6:p.Tyr14153Ter
ENST00000359218.10:c.23343T>G (TTN) ENSP00000352154.5:p.Tyr7781Ter
ENST00000359218.9:c.23343T>G (TTN) ENSP00000352154.5:p.Tyr7781Ter
ENST00000460472.6:c.22968T>G (TTN) ENSP00000434586.1:p.Tyr7656Ter
ENST00000591111.5:c.45240T>G (TTN) ENSP00000465570.1:p.Tyr15080Ter
ENST00000615779.4:c.45240T>G (TTN) ENSP00000483597.1:p.Tyr15080Ter
XM_011511729.1:c.49260T>G (TTN) XP_011510031.1:p.Tyr16420Ter
XM_011511730.1:c.23154T>G (TTN) XP_011510032.1:p.Tyr7718Ter
XM_011511731.1:c.23013T>G (TTN) XP_011510033.1:p.Tyr7671Ter
XM_017004819.1:c.49056T>G (TTN) XP_016860308.1:p.Tyr16352Ter
XM_017004820.1:c.44454T>G (TTN) XP_016860309.1:p.Tyr14818Ter
XM_017004821.1:c.44451T>G (TTN) XP_016860310.1:p.Tyr14817Ter
XM_017004822.1:c.41493T>G (TTN) XP_016860311.1:p.Tyr13831Ter
XM_017004823.1:c.23109T>G (TTN) XP_016860312.1:p.Tyr7703Ter
XM_024453094.1:c.44604T>G (TTN) XP_024308862.1:p.Tyr14868Ter
XM_024453095.1:c.44601T>G (TTN) XP_024308863.1:p.Tyr14867Ter
XM_024453096.1:c.44034T>G (TTN) XP_024308864.1:p.Tyr14678Ter
XM_024453097.1:c.41376T>G (TTN) XP_024308865.1:p.Tyr13792Ter
XM_024453098.1:c.41295T>G (TTN) XP_024308866.1:p.Tyr13765Ter
XM_024453099.1:c.23058T>G (TTN) XP_024308867.1:p.Tyr7686Ter
XM_024453100.1:c.12912T>G (TTN) XP_024308868.1:p.Tyr4304Ter