Canonical Allele Identifier: CA349605048
Community Standard Title: NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568381A>T , CM000664.2:g.178568381A>T GRCh38
NC_000002.11:g.179433108A>T , CM000664.1:g.179433108A>T GRCh37
NC_000002.10:g.179141354A>T NCBI36
NG_011618.3:g.267422T>A , LRG_391:g.267422T>A
NG_051363.1:g.50555A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77751T>A (TTN) MANE Select NP_001254479.2:p.Tyr25917Ter
ENST00000589042.5:c.77751T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr25917Ter
NM_001256850.1:c.72828T>A (TTN) NP_001243779.1:p.Tyr24276Ter
NM_003319.4:c.50556T>A (TTN) NP_003310.4:p.Tyr16852Ter
NM_133378.4:c.70047T>A (TTN) NP_596869.4:p.Tyr23349Ter
NM_133432.3:c.50931T>A (TTN) NP_597676.3:p.Tyr16977Ter
NM_133437.4:c.51132T>A (TTN) NP_597681.4:p.Tyr17044Ter
NR_038271.1:n.447-2919A>T (TTN-AS1)
NR_038272.1:n.2044-14191A>T (TTN-AS1)
ENST00000342175.10:c.51132T>A (TTN) ENSP00000340554.6:p.Tyr17044Ter
ENST00000342175.11:c.51132T>A (TTN) ENSP00000340554.6:p.Tyr17044Ter
ENST00000342992.10:c.70047T>A (TTN) ENSP00000343764.6:p.Tyr23349Ter
ENST00000342992.11:c.70047T>A (TTN) ENSP00000343764.6:p.Tyr23349Ter
ENST00000359218.10:c.50931T>A (TTN) ENSP00000352154.5:p.Tyr16977Ter
ENST00000359218.9:c.50931T>A (TTN) ENSP00000352154.5:p.Tyr16977Ter
ENST00000460472.6:c.50556T>A (TTN) ENSP00000434586.1:p.Tyr16852Ter
ENST00000591111.5:c.72828T>A (TTN) ENSP00000465570.1:p.Tyr24276Ter
ENST00000615779.4:c.72828T>A (TTN) ENSP00000483597.1:p.Tyr24276Ter
XM_011511729.1:c.76848T>A (TTN) XP_011510031.1:p.Tyr25616Ter
XM_011511730.1:c.50742T>A (TTN) XP_011510032.1:p.Tyr16914Ter
XM_011511731.1:c.50601T>A (TTN) XP_011510033.1:p.Tyr16867Ter
XM_017004819.1:c.76644T>A (TTN) XP_016860308.1:p.Tyr25548Ter
XM_017004820.1:c.72042T>A (TTN) XP_016860309.1:p.Tyr24014Ter
XM_017004821.1:c.72039T>A (TTN) XP_016860310.1:p.Tyr24013Ter
XM_017004822.1:c.69081T>A (TTN) XP_016860311.1:p.Tyr23027Ter
XM_017004823.1:c.50697T>A (TTN) XP_016860312.1:p.Tyr16899Ter
XM_024453094.1:c.72192T>A (TTN) XP_024308862.1:p.Tyr24064Ter
XM_024453095.1:c.72189T>A (TTN) XP_024308863.1:p.Tyr24063Ter
XM_024453096.1:c.71622T>A (TTN) XP_024308864.1:p.Tyr23874Ter
XM_024453097.1:c.68964T>A (TTN) XP_024308865.1:p.Tyr22988Ter
XM_024453098.1:c.68883T>A (TTN) XP_024308866.1:p.Tyr22961Ter
XM_024453099.1:c.50646T>A (TTN) XP_024308867.1:p.Tyr16882Ter
XM_024453100.1:c.40500T>A (TTN) XP_024308868.1:p.Tyr13500Ter