Canonical Allele Identifier: CA349505641
Community Standard Title: NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551985G>C , CM000664.2:g.178551985G>C GRCh38
NC_000002.11:g.179416712G>C , CM000664.1:g.179416712G>C GRCh37
NC_000002.10:g.179124958G>C NCBI36
NG_011618.3:g.283818C>G , LRG_391:g.283818C>G
NG_051363.1:g.34159G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90915C>G (TTN) MANE Select NP_001254479.2:p.Tyr30305Ter
ENST00000589042.5:c.90915C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr30305Ter
NM_001256850.1:c.85992C>G (TTN) NP_001243779.1:p.Tyr28664Ter
NM_003319.4:c.63720C>G (TTN) NP_003310.4:p.Tyr21240Ter
NM_133378.4:c.83211C>G (TTN) NP_596869.4:p.Tyr27737Ter
NM_133432.3:c.64095C>G (TTN) NP_597676.3:p.Tyr21365Ter
NM_133437.4:c.64296C>G (TTN) NP_597681.4:p.Tyr21432Ter
NR_038271.1:n.447-19315G>C (TTN-AS1)
NR_038272.1:n.2043+9624G>C (TTN-AS1)
ENST00000342175.10:c.64296C>G (TTN) ENSP00000340554.6:p.Tyr21432Ter
ENST00000342175.11:c.64296C>G (TTN) ENSP00000340554.6:p.Tyr21432Ter
ENST00000342992.10:c.83211C>G (TTN) ENSP00000343764.6:p.Tyr27737Ter
ENST00000342992.11:c.83211C>G (TTN) ENSP00000343764.6:p.Tyr27737Ter
ENST00000359218.10:c.64095C>G (TTN) ENSP00000352154.5:p.Tyr21365Ter
ENST00000359218.9:c.64095C>G (TTN) ENSP00000352154.5:p.Tyr21365Ter
ENST00000460472.6:c.63720C>G (TTN) ENSP00000434586.1:p.Tyr21240Ter
ENST00000591111.5:c.85992C>G (TTN) ENSP00000465570.1:p.Tyr28664Ter
ENST00000615779.4:c.85992C>G (TTN) ENSP00000483597.1:p.Tyr28664Ter
XM_011511729.1:c.90012C>G (TTN) XP_011510031.1:p.Tyr30004Ter
XM_011511730.1:c.63906C>G (TTN) XP_011510032.1:p.Tyr21302Ter
XM_011511731.1:c.63765C>G (TTN) XP_011510033.1:p.Tyr21255Ter
XM_017004819.1:c.89808C>G (TTN) XP_016860308.1:p.Tyr29936Ter
XM_017004820.1:c.85206C>G (TTN) XP_016860309.1:p.Tyr28402Ter
XM_017004821.1:c.85203C>G (TTN) XP_016860310.1:p.Tyr28401Ter
XM_017004822.1:c.82245C>G (TTN) XP_016860311.1:p.Tyr27415Ter
XM_017004823.1:c.63861C>G (TTN) XP_016860312.1:p.Tyr21287Ter
XM_024453094.1:c.85356C>G (TTN) XP_024308862.1:p.Tyr28452Ter
XM_024453095.1:c.85353C>G (TTN) XP_024308863.1:p.Tyr28451Ter
XM_024453096.1:c.84786C>G (TTN) XP_024308864.1:p.Tyr28262Ter
XM_024453097.1:c.82128C>G (TTN) XP_024308865.1:p.Tyr27376Ter
XM_024453098.1:c.82047C>G (TTN) XP_024308866.1:p.Tyr27349Ter
XM_024453099.1:c.63810C>G (TTN) XP_024308867.1:p.Tyr21270Ter
XM_024453100.1:c.53664C>G (TTN) XP_024308868.1:p.Tyr17888Ter