Canonical Allele Identifier: CA349616078
Community Standard Title: NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569839A>C , CM000664.2:g.178569839A>C GRCh38
NC_000002.11:g.179434566A>C , CM000664.1:g.179434566A>C GRCh37
NC_000002.10:g.179142812A>C NCBI36
NG_011618.3:g.265964T>G , LRG_391:g.265964T>G
NG_051363.1:g.52013A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.76293T>G (TTN) MANE Select NP_001254479.2:p.Tyr25431Ter
ENST00000589042.5:c.76293T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr25431Ter
NM_001256850.1:c.71370T>G (TTN) NP_001243779.1:p.Tyr23790Ter
NM_003319.4:c.49098T>G (TTN) NP_003310.4:p.Tyr16366Ter
NM_133378.4:c.68589T>G (TTN) NP_596869.4:p.Tyr22863Ter
NM_133432.3:c.49473T>G (TTN) NP_597676.3:p.Tyr16491Ter
NM_133437.4:c.49674T>G (TTN) NP_597681.4:p.Tyr16558Ter
NR_038271.1:n.447-1461A>C (TTN-AS1)
NR_038272.1:n.2044-12733A>C (TTN-AS1)
ENST00000342175.10:c.49674T>G (TTN) ENSP00000340554.6:p.Tyr16558Ter
ENST00000342175.11:c.49674T>G (TTN) ENSP00000340554.6:p.Tyr16558Ter
ENST00000342992.10:c.68589T>G (TTN) ENSP00000343764.6:p.Tyr22863Ter
ENST00000342992.11:c.68589T>G (TTN) ENSP00000343764.6:p.Tyr22863Ter
ENST00000359218.10:c.49473T>G (TTN) ENSP00000352154.5:p.Tyr16491Ter
ENST00000359218.9:c.49473T>G (TTN) ENSP00000352154.5:p.Tyr16491Ter
ENST00000460472.6:c.49098T>G (TTN) ENSP00000434586.1:p.Tyr16366Ter
ENST00000591111.5:c.71370T>G (TTN) ENSP00000465570.1:p.Tyr23790Ter
ENST00000615779.4:c.71370T>G (TTN) ENSP00000483597.1:p.Tyr23790Ter
XM_011511729.1:c.75390T>G (TTN) XP_011510031.1:p.Tyr25130Ter
XM_011511730.1:c.49284T>G (TTN) XP_011510032.1:p.Tyr16428Ter
XM_011511731.1:c.49143T>G (TTN) XP_011510033.1:p.Tyr16381Ter
XM_017004819.1:c.75186T>G (TTN) XP_016860308.1:p.Tyr25062Ter
XM_017004820.1:c.70584T>G (TTN) XP_016860309.1:p.Tyr23528Ter
XM_017004821.1:c.70581T>G (TTN) XP_016860310.1:p.Tyr23527Ter
XM_017004822.1:c.67623T>G (TTN) XP_016860311.1:p.Tyr22541Ter
XM_017004823.1:c.49239T>G (TTN) XP_016860312.1:p.Tyr16413Ter
XM_024453094.1:c.70734T>G (TTN) XP_024308862.1:p.Tyr23578Ter
XM_024453095.1:c.70731T>G (TTN) XP_024308863.1:p.Tyr23577Ter
XM_024453096.1:c.70164T>G (TTN) XP_024308864.1:p.Tyr23388Ter
XM_024453097.1:c.67506T>G (TTN) XP_024308865.1:p.Tyr22502Ter
XM_024453098.1:c.67425T>G (TTN) XP_024308866.1:p.Tyr22475Ter
XM_024453099.1:c.49188T>G (TTN) XP_024308867.1:p.Tyr16396Ter
XM_024453100.1:c.39042T>G (TTN) XP_024308868.1:p.Tyr13014Ter