Canonical Allele Identifier: CA349570098
Community Standard Title: NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563133G>A , CM000664.2:g.178563133G>A GRCh38
NC_000002.11:g.179427860G>A , CM000664.1:g.179427860G>A GRCh37
NC_000002.10:g.179136106G>A NCBI36
NG_011618.3:g.272670C>T , LRG_391:g.272670C>T
NG_051363.1:g.45307G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82999C>T (TTN) MANE Select NP_001254479.2:p.Gln27667Ter
ENST00000589042.5:c.82999C>T (TTN) MANE Select ENSP00000467141.1:p.Gln27667Ter
NM_001256850.1:c.78076C>T (TTN) NP_001243779.1:p.Gln26026Ter
NM_003319.4:c.55804C>T (TTN) NP_003310.4:p.Gln18602Ter
NM_133378.4:c.75295C>T (TTN) NP_596869.4:p.Gln25099Ter
NM_133432.3:c.56179C>T (TTN) NP_597676.3:p.Gln18727Ter
NM_133437.4:c.56380C>T (TTN) NP_597681.4:p.Gln18794Ter
NR_038271.1:n.447-8167G>A (TTN-AS1)
NR_038272.1:n.2044-19439G>A (TTN-AS1)
ENST00000342175.10:c.56380C>T (TTN) ENSP00000340554.6:p.Gln18794Ter
ENST00000342175.11:c.56380C>T (TTN) ENSP00000340554.6:p.Gln18794Ter
ENST00000342992.10:c.75295C>T (TTN) ENSP00000343764.6:p.Gln25099Ter
ENST00000342992.11:c.75295C>T (TTN) ENSP00000343764.6:p.Gln25099Ter
ENST00000359218.10:c.56179C>T (TTN) ENSP00000352154.5:p.Gln18727Ter
ENST00000359218.9:c.56179C>T (TTN) ENSP00000352154.5:p.Gln18727Ter
ENST00000460472.6:c.55804C>T (TTN) ENSP00000434586.1:p.Gln18602Ter
ENST00000591111.5:c.78076C>T (TTN) ENSP00000465570.1:p.Gln26026Ter
ENST00000615779.4:c.78076C>T (TTN) ENSP00000483597.1:p.Gln26026Ter
XM_011511729.1:c.82096C>T (TTN) XP_011510031.1:p.Gln27366Ter
XM_011511730.1:c.55990C>T (TTN) XP_011510032.1:p.Gln18664Ter
XM_011511731.1:c.55849C>T (TTN) XP_011510033.1:p.Gln18617Ter
XM_017004819.1:c.81892C>T (TTN) XP_016860308.1:p.Gln27298Ter
XM_017004820.1:c.77290C>T (TTN) XP_016860309.1:p.Gln25764Ter
XM_017004821.1:c.77287C>T (TTN) XP_016860310.1:p.Gln25763Ter
XM_017004822.1:c.74329C>T (TTN) XP_016860311.1:p.Gln24777Ter
XM_017004823.1:c.55945C>T (TTN) XP_016860312.1:p.Gln18649Ter
XM_024453094.1:c.77440C>T (TTN) XP_024308862.1:p.Gln25814Ter
XM_024453095.1:c.77437C>T (TTN) XP_024308863.1:p.Gln25813Ter
XM_024453096.1:c.76870C>T (TTN) XP_024308864.1:p.Gln25624Ter
XM_024453097.1:c.74212C>T (TTN) XP_024308865.1:p.Gln24738Ter
XM_024453098.1:c.74131C>T (TTN) XP_024308866.1:p.Gln24711Ter
XM_024453099.1:c.55894C>T (TTN) XP_024308867.1:p.Gln18632Ter
XM_024453100.1:c.45748C>T (TTN) XP_024308868.1:p.Gln15250Ter