Canonical Allele Identifier: CA349445115
Community Standard Title: NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543135G>A , CM000664.2:g.178543135G>A GRCh38
NC_000002.11:g.179407862G>A , CM000664.1:g.179407862G>A GRCh37
NC_000002.10:g.179116108G>A NCBI36
NG_011618.3:g.292668C>T , LRG_391:g.292668C>T
NG_051363.1:g.25309G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.96838C>T (TTN) MANE Select NP_001254479.2:p.Gln32280Ter
ENST00000589042.5:c.96838C>T (TTN) MANE Select ENSP00000467141.1:p.Gln32280Ter
NM_001256850.1:c.91915C>T (TTN) NP_001243779.1:p.Gln30639Ter
NM_003319.4:c.69643C>T (TTN) NP_003310.4:p.Gln23215Ter
NM_133378.4:c.89134C>T (TTN) NP_596869.4:p.Gln29712Ter
NM_133432.3:c.70018C>T (TTN) NP_597676.3:p.Gln23340Ter
NM_133437.4:c.70219C>T (TTN) NP_597681.4:p.Gln23407Ter
NR_038271.1:n.446+19499G>A (TTN-AS1)
NR_038272.1:n.2043+774G>A (TTN-AS1)
ENST00000342175.10:c.70219C>T (TTN) ENSP00000340554.6:p.Gln23407Ter
ENST00000342175.11:c.70219C>T (TTN) ENSP00000340554.6:p.Gln23407Ter
ENST00000342992.10:c.89134C>T (TTN) ENSP00000343764.6:p.Gln29712Ter
ENST00000342992.11:c.89134C>T (TTN) ENSP00000343764.6:p.Gln29712Ter
ENST00000359218.10:c.70018C>T (TTN) ENSP00000352154.5:p.Gln23340Ter
ENST00000359218.9:c.70018C>T (TTN) ENSP00000352154.5:p.Gln23340Ter
ENST00000460472.6:c.69643C>T (TTN) ENSP00000434586.1:p.Gln23215Ter
ENST00000591111.5:c.91915C>T (TTN) ENSP00000465570.1:p.Gln30639Ter
ENST00000615779.4:c.91915C>T (TTN) ENSP00000483597.1:p.Gln30639Ter
XM_011511729.1:c.95935C>T (TTN) XP_011510031.1:p.Gln31979Ter
XM_011511730.1:c.69829C>T (TTN) XP_011510032.1:p.Gln23277Ter
XM_011511731.1:c.69688C>T (TTN) XP_011510033.1:p.Gln23230Ter
XM_017004819.1:c.95731C>T (TTN) XP_016860308.1:p.Gln31911Ter
XM_017004820.1:c.91129C>T (TTN) XP_016860309.1:p.Gln30377Ter
XM_017004821.1:c.91126C>T (TTN) XP_016860310.1:p.Gln30376Ter
XM_017004822.1:c.88168C>T (TTN) XP_016860311.1:p.Gln29390Ter
XM_017004823.1:c.69784C>T (TTN) XP_016860312.1:p.Gln23262Ter
XM_024453094.1:c.91279C>T (TTN) XP_024308862.1:p.Gln30427Ter
XM_024453095.1:c.91276C>T (TTN) XP_024308863.1:p.Gln30426Ter
XM_024453096.1:c.90709C>T (TTN) XP_024308864.1:p.Gln30237Ter
XM_024453097.1:c.88051C>T (TTN) XP_024308865.1:p.Gln29351Ter
XM_024453098.1:c.87970C>T (TTN) XP_024308866.1:p.Gln29324Ter
XM_024453099.1:c.69733C>T (TTN) XP_024308867.1:p.Gln23245Ter
XM_024453100.1:c.59587C>T (TTN) XP_024308868.1:p.Gln19863Ter