Canonical Allele Identifier: CA349644674
Community Standard Title: NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573187G>C , CM000664.2:g.178573187G>C GRCh38
NC_000002.11:g.179437914G>C , CM000664.1:g.179437914G>C GRCh37
NC_000002.10:g.179146160G>C NCBI36
NG_011618.3:g.262616C>G , LRG_391:g.262616C>G
NG_051363.1:g.55361G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.72945C>G (TTN) MANE Select NP_001254479.2:p.Tyr24315Ter
ENST00000589042.5:c.72945C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr24315Ter
NM_001256850.1:c.68022C>G (TTN) NP_001243779.1:p.Tyr22674Ter
NM_003319.4:c.45750C>G (TTN) NP_003310.4:p.Tyr15250Ter
NM_133378.4:c.65241C>G (TTN) NP_596869.4:p.Tyr21747Ter
NM_133432.3:c.46125C>G (TTN) NP_597676.3:p.Tyr15375Ter
NM_133437.4:c.46326C>G (TTN) NP_597681.4:p.Tyr15442Ter
NR_038271.1:n.596+1738G>C (TTN-AS1)
NR_038272.1:n.2044-9385G>C (TTN-AS1)
ENST00000342175.10:c.46326C>G (TTN) ENSP00000340554.6:p.Tyr15442Ter
ENST00000342175.11:c.46326C>G (TTN) ENSP00000340554.6:p.Tyr15442Ter
ENST00000342992.10:c.65241C>G (TTN) ENSP00000343764.6:p.Tyr21747Ter
ENST00000342992.11:c.65241C>G (TTN) ENSP00000343764.6:p.Tyr21747Ter
ENST00000359218.10:c.46125C>G (TTN) ENSP00000352154.5:p.Tyr15375Ter
ENST00000359218.9:c.46125C>G (TTN) ENSP00000352154.5:p.Tyr15375Ter
ENST00000460472.6:c.45750C>G (TTN) ENSP00000434586.1:p.Tyr15250Ter
ENST00000591111.5:c.68022C>G (TTN) ENSP00000465570.1:p.Tyr22674Ter
ENST00000615779.4:c.68022C>G (TTN) ENSP00000483597.1:p.Tyr22674Ter
XM_011511729.1:c.72042C>G (TTN) XP_011510031.1:p.Tyr24014Ter
XM_011511730.1:c.45936C>G (TTN) XP_011510032.1:p.Tyr15312Ter
XM_011511731.1:c.45795C>G (TTN) XP_011510033.1:p.Tyr15265Ter
XM_017004819.1:c.71838C>G (TTN) XP_016860308.1:p.Tyr23946Ter
XM_017004820.1:c.67236C>G (TTN) XP_016860309.1:p.Tyr22412Ter
XM_017004821.1:c.67233C>G (TTN) XP_016860310.1:p.Tyr22411Ter
XM_017004822.1:c.64275C>G (TTN) XP_016860311.1:p.Tyr21425Ter
XM_017004823.1:c.45891C>G (TTN) XP_016860312.1:p.Tyr15297Ter
XM_024453094.1:c.67386C>G (TTN) XP_024308862.1:p.Tyr22462Ter
XM_024453095.1:c.67383C>G (TTN) XP_024308863.1:p.Tyr22461Ter
XM_024453096.1:c.66816C>G (TTN) XP_024308864.1:p.Tyr22272Ter
XM_024453097.1:c.64158C>G (TTN) XP_024308865.1:p.Tyr21386Ter
XM_024453098.1:c.64077C>G (TTN) XP_024308866.1:p.Tyr21359Ter
XM_024453099.1:c.45840C>G (TTN) XP_024308867.1:p.Tyr15280Ter
XM_024453100.1:c.35694C>G (TTN) XP_024308868.1:p.Tyr11898Ter