Canonical Allele Identifier: CA349437089
Community Standard Title: NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178541440C>T , CM000664.2:g.178541440C>T GRCh38
NC_000002.11:g.179406167C>T , CM000664.1:g.179406167C>T GRCh37
NC_000002.10:g.179114413C>T NCBI36
NG_011618.3:g.294363G>A , LRG_391:g.294363G>A
NG_051363.1:g.23614C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97637G>A (TTN) MANE Select NP_001254479.2:p.Trp32546Ter
ENST00000589042.5:c.97637G>A (TTN) MANE Select ENSP00000467141.1:p.Trp32546Ter
NM_001256850.1:c.92714G>A (TTN) NP_001243779.1:p.Trp30905Ter
NM_003319.4:c.70442G>A (TTN) NP_003310.4:p.Trp23481Ter
NM_133378.4:c.89933G>A (TTN) NP_596869.4:p.Trp29978Ter
NM_133432.3:c.70817G>A (TTN) NP_597676.3:p.Trp23606Ter
NM_133437.4:c.71018G>A (TTN) NP_597681.4:p.Trp23673Ter
NR_038271.1:n.446+17804C>T (TTN-AS1)
NR_038272.1:n.1904-782C>T (TTN-AS1)
ENST00000342175.10:c.71018G>A (TTN) ENSP00000340554.6:p.Trp23673Ter
ENST00000342175.11:c.71018G>A (TTN) ENSP00000340554.6:p.Trp23673Ter
ENST00000342992.10:c.89933G>A (TTN) ENSP00000343764.6:p.Trp29978Ter
ENST00000342992.11:c.89933G>A (TTN) ENSP00000343764.6:p.Trp29978Ter
ENST00000359218.10:c.70817G>A (TTN) ENSP00000352154.5:p.Trp23606Ter
ENST00000359218.9:c.70817G>A (TTN) ENSP00000352154.5:p.Trp23606Ter
ENST00000460472.6:c.70442G>A (TTN) ENSP00000434586.1:p.Trp23481Ter
ENST00000591111.5:c.92714G>A (TTN) ENSP00000465570.1:p.Trp30905Ter
ENST00000615779.4:c.92714G>A (TTN) ENSP00000483597.1:p.Trp30905Ter
XM_011511729.1:c.96734G>A (TTN) XP_011510031.1:p.Trp32245Ter
XM_011511730.1:c.70628G>A (TTN) XP_011510032.1:p.Trp23543Ter
XM_011511731.1:c.70487G>A (TTN) XP_011510033.1:p.Trp23496Ter
XM_017004819.1:c.96530G>A (TTN) XP_016860308.1:p.Trp32177Ter
XM_017004820.1:c.91928G>A (TTN) XP_016860309.1:p.Trp30643Ter
XM_017004821.1:c.91925G>A (TTN) XP_016860310.1:p.Trp30642Ter
XM_017004822.1:c.88967G>A (TTN) XP_016860311.1:p.Trp29656Ter
XM_017004823.1:c.70583G>A (TTN) XP_016860312.1:p.Trp23528Ter
XM_024453094.1:c.92078G>A (TTN) XP_024308862.1:p.Trp30693Ter
XM_024453095.1:c.92075G>A (TTN) XP_024308863.1:p.Trp30692Ter
XM_024453096.1:c.91508G>A (TTN) XP_024308864.1:p.Trp30503Ter
XM_024453097.1:c.88850G>A (TTN) XP_024308865.1:p.Trp29617Ter
XM_024453098.1:c.88769G>A (TTN) XP_024308866.1:p.Trp29590Ter
XM_024453099.1:c.70532G>A (TTN) XP_024308867.1:p.Trp23511Ter
XM_024453100.1:c.60386G>A (TTN) XP_024308868.1:p.Trp20129Ter