Canonical Allele Identifier: CA10587445

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537686A>G , CM000664.2:g.178537686A>G GRCh38
NC_000002.11:g.179402413A>G , CM000664.1:g.179402413A>G GRCh37
NC_000002.10:g.179110659A>G NCBI36
NG_011618.3:g.298117T>C , LRG_391:g.298117T>C
NG_051363.1:g.19860A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91817T>C (TTN) ENSP00000343764.6:p.Ile30606Thr
ENST00000342175.11:c.72902T>C (TTN) ENSP00000340554.6:p.Ile24301Thr
ENST00000359218.10:c.72701T>C (TTN) ENSP00000352154.5:p.Ile24234Thr
ENST00000342175.10:c.72902T>C (TTN) ENSP00000340554.6:p.Ile24301Thr
ENST00000342992.10:c.91817T>C (TTN) ENSP00000343764.6:p.Ile30606Thr
ENST00000359218.9:c.72701T>C (TTN) ENSP00000352154.5:p.Ile24234Thr
ENST00000460472.6:c.72326T>C (TTN) ENSP00000434586.1:p.Ile24109Thr
ENST00000589042.5:c.99521T>C (TTN) MANE Select ENSP00000467141.1:p.Ile33174Thr
ENST00000591111.5:c.94598T>C (TTN) ENSP00000465570.1:p.Ile31533Thr
ENST00000615779.4:c.94598T>C (TTN) ENSP00000483597.1:p.Ile31533Thr
NM_001256850.1:c.94598T>C (TTN) NP_001243779.1:p.Ile31533Thr
NM_001267550.2:c.99521T>C (TTN) MANE Select NP_001254479.2:p.Ile33174Thr
NM_003319.4:c.72326T>C (TTN) NP_003310.4:p.Ile24109Thr
NM_133378.4:c.91817T>C (TTN) NP_596869.4:p.Ile30606Thr
NM_133432.3:c.72701T>C (TTN) NP_597676.3:p.Ile24234Thr
NM_133437.4:c.72902T>C (TTN) NP_597681.4:p.Ile24301Thr
NR_038271.1:n.446+14050A>G (TTN-AS1)
NR_038272.1:n.642A>G (TTN-AS1)
XM_011511729.1:c.98618T>C (TTN) XP_011510031.1:p.Ile32873Thr
XM_011511730.1:c.72512T>C (TTN) XP_011510032.1:p.Ile24171Thr
XM_011511731.1:c.72371T>C (TTN) XP_011510033.1:p.Ile24124Thr
XM_017004819.1:c.98414T>C (TTN) XP_016860308.1:p.Ile32805Thr
XM_017004820.1:c.93812T>C (TTN) XP_016860309.1:p.Ile31271Thr
XM_017004821.1:c.93809T>C (TTN) XP_016860310.1:p.Ile31270Thr
XM_017004822.1:c.90851T>C (TTN) XP_016860311.1:p.Ile30284Thr
XM_017004823.1:c.72467T>C (TTN) XP_016860312.1:p.Ile24156Thr
XM_024453094.1:c.93962T>C (TTN) XP_024308862.1:p.Ile31321Thr
XM_024453095.1:c.93959T>C (TTN) XP_024308863.1:p.Ile31320Thr
XM_024453096.1:c.93392T>C (TTN) XP_024308864.1:p.Ile31131Thr
XM_024453097.1:c.90734T>C (TTN) XP_024308865.1:p.Ile30245Thr
XM_024453098.1:c.90653T>C (TTN) XP_024308866.1:p.Ile30218Thr
XM_024453099.1:c.72416T>C (TTN) XP_024308867.1:p.Ile24139Thr
XM_024453100.1:c.62270T>C (TTN) XP_024308868.1:p.Ile20757Thr