Canonical Allele Identifier: CA60950183
Community Standard Title: NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178528628G>A , CM000664.2:g.178528628G>A GRCh38
NC_000002.11:g.179393355G>A , CM000664.1:g.179393355G>A GRCh37
NC_000002.10:g.179101601G>A NCBI36
NG_011618.3:g.307175C>T , LRG_391:g.307175C>T
NG_051363.1:g.10802G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107123C>T (TTN) MANE Select NP_001254479.2:p.Pro35708Leu
ENST00000589042.5:c.107123C>T (TTN) MANE Select ENSP00000467141.1:p.Pro35708Leu
NM_001256850.1:c.102200C>T (TTN) NP_001243779.1:p.Pro34067Leu
NM_003319.4:c.79928C>T (TTN) NP_003310.4:p.Pro26643Leu
NM_133378.4:c.99419C>T (TTN) NP_596869.4:p.Pro33140Leu
NM_133432.3:c.80303C>T (TTN) NP_597676.3:p.Pro26768Leu
NM_133437.4:c.80504C>T (TTN) NP_597681.4:p.Pro26835Leu
NR_038271.1:n.446+4992G>A (TTN-AS1)
NR_038272.1:n.219+4992G>A (TTN-AS1)
ENST00000342175.10:c.80504C>T (TTN) ENSP00000340554.6:p.Pro26835Leu
ENST00000342175.11:c.80504C>T (TTN) ENSP00000340554.6:p.Pro26835Leu
ENST00000342992.10:c.99419C>T (TTN) ENSP00000343764.6:p.Pro33140Leu
ENST00000342992.11:c.99419C>T (TTN) ENSP00000343764.6:p.Pro33140Leu
ENST00000359218.10:c.80303C>T (TTN) ENSP00000352154.5:p.Pro26768Leu
ENST00000359218.9:c.80303C>T (TTN) ENSP00000352154.5:p.Pro26768Leu
ENST00000460472.6:c.79928C>T (TTN) ENSP00000434586.1:p.Pro26643Leu
ENST00000591111.5:c.102200C>T (TTN) ENSP00000465570.1:p.Pro34067Leu
ENST00000615779.4:c.102200C>T (TTN) ENSP00000483597.1:p.Pro34067Leu
XM_011511729.1:c.106220C>T (TTN) XP_011510031.1:p.Pro35407Leu
XM_011511730.1:c.80114C>T (TTN) XP_011510032.1:p.Pro26705Leu
XM_011511731.1:c.79973C>T (TTN) XP_011510033.1:p.Pro26658Leu
XM_017004819.1:c.106016C>T (TTN) XP_016860308.1:p.Pro35339Leu
XM_017004820.1:c.101414C>T (TTN) XP_016860309.1:p.Pro33805Leu
XM_017004821.1:c.101411C>T (TTN) XP_016860310.1:p.Pro33804Leu
XM_017004822.1:c.98453C>T (TTN) XP_016860311.1:p.Pro32818Leu
XM_017004823.1:c.80069C>T (TTN) XP_016860312.1:p.Pro26690Leu
XM_024453094.1:c.101564C>T (TTN) XP_024308862.1:p.Pro33855Leu
XM_024453095.1:c.101561C>T (TTN) XP_024308863.1:p.Pro33854Leu
XM_024453096.1:c.100994C>T (TTN) XP_024308864.1:p.Pro33665Leu
XM_024453097.1:c.98336C>T (TTN) XP_024308865.1:p.Pro32779Leu
XM_024453098.1:c.98255C>T (TTN) XP_024308866.1:p.Pro32752Leu
XM_024453099.1:c.80018C>T (TTN) XP_024308867.1:p.Pro26673Leu
XM_024453100.1:c.69872C>T (TTN) XP_024308868.1:p.Pro23291Leu