Canonical Allele Identifier: CA349480083

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591016G>A , CM000664.2:g.178591016G>A GRCh38
NC_000002.11:g.179455743G>A , CM000664.1:g.179455743G>A GRCh37
NC_000002.10:g.179163989G>A NCBI36
NG_011618.3:g.244787C>T , LRG_391:g.244787C>T
NG_051363.1:g.73190G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53005C>T (TTN) ENSP00000343764.6:p.Gln17669Ter
ENST00000342175.11:c.34090C>T (TTN) ENSP00000340554.6:p.Gln11364Ter
ENST00000359218.10:c.33889C>T (TTN) ENSP00000352154.5:p.Gln11297Ter
ENST00000342175.10:c.34090C>T (TTN) ENSP00000340554.6:p.Gln11364Ter
ENST00000342992.10:c.53005C>T (TTN) ENSP00000343764.6:p.Gln17669Ter
ENST00000359218.9:c.33889C>T (TTN) ENSP00000352154.5:p.Gln11297Ter
ENST00000460472.6:c.33514C>T (TTN) ENSP00000434586.1:p.Gln11172Ter
ENST00000589042.5:c.60709C>T (TTN) MANE Select ENSP00000467141.1:p.Gln20237Ter
ENST00000591111.5:c.55786C>T (TTN) ENSP00000465570.1:p.Gln18596Ter
ENST00000615779.4:c.55786C>T (TTN) ENSP00000483597.1:p.Gln18596Ter
NM_001256850.1:c.55786C>T (TTN) NP_001243779.1:p.Gln18596Ter
NM_001267550.2:c.60709C>T (TTN) MANE Select NP_001254479.2:p.Gln20237Ter
NM_003319.4:c.33514C>T (TTN) NP_003310.4:p.Gln11172Ter
NM_133378.4:c.53005C>T (TTN) NP_596869.4:p.Gln17669Ter
NM_133432.3:c.33889C>T (TTN) NP_597676.3:p.Gln11297Ter
NM_133437.4:c.34090C>T (TTN) NP_597681.4:p.Gln11364Ter
NR_038271.1:n.597-6580G>A (TTN-AS1)
NR_038272.1:n.3189-123G>A (TTN-AS1)
XM_011511729.1:c.59806C>T (TTN) XP_011510031.1:p.Gln19936Ter
XM_011511730.1:c.33700C>T (TTN) XP_011510032.1:p.Gln11234Ter
XM_011511731.1:c.33559C>T (TTN) XP_011510033.1:p.Gln11187Ter
XM_017004819.1:c.59602C>T (TTN) XP_016860308.1:p.Gln19868Ter
XM_017004820.1:c.55000C>T (TTN) XP_016860309.1:p.Gln18334Ter
XM_017004821.1:c.54997C>T (TTN) XP_016860310.1:p.Gln18333Ter
XM_017004822.1:c.52039C>T (TTN) XP_016860311.1:p.Gln17347Ter
XM_017004823.1:c.33655C>T (TTN) XP_016860312.1:p.Gln11219Ter
XM_024453094.1:c.55150C>T (TTN) XP_024308862.1:p.Gln18384Ter
XM_024453095.1:c.55147C>T (TTN) XP_024308863.1:p.Gln18383Ter
XM_024453096.1:c.54580C>T (TTN) XP_024308864.1:p.Gln18194Ter
XM_024453097.1:c.51922C>T (TTN) XP_024308865.1:p.Gln17308Ter
XM_024453098.1:c.51841C>T (TTN) XP_024308866.1:p.Gln17281Ter
XM_024453099.1:c.33604C>T (TTN) XP_024308867.1:p.Gln11202Ter
XM_024453100.1:c.23458C>T (TTN) XP_024308868.1:p.Gln7820Ter