Canonical Allele Identifier: CA349604946

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613919G>A , CM000664.2:g.178613919G>A GRCh38
NC_000002.11:g.179478646G>A , CM000664.1:g.179478646G>A GRCh37
NC_000002.10:g.179186891G>A NCBI36
NG_011618.3:g.221884C>T , LRG_391:g.221884C>T
NG_051363.1:g.96093G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41660C>T (TTN) ENSP00000343764.6:p.Thr13887Ile
ENST00000342175.11:c.22745C>T (TTN) ENSP00000340554.6:p.Thr7582Ile
ENST00000359218.10:c.22544C>T (TTN) ENSP00000352154.5:p.Thr7515Ile
ENST00000342175.10:c.22745C>T (TTN) ENSP00000340554.6:p.Thr7582Ile
ENST00000342992.10:c.41660C>T (TTN) ENSP00000343764.6:p.Thr13887Ile
ENST00000359218.9:c.22544C>T (TTN) ENSP00000352154.5:p.Thr7515Ile
ENST00000460472.6:c.22169C>T (TTN) ENSP00000434586.1:p.Thr7390Ile
ENST00000589042.5:c.49364C>T (TTN) MANE Select ENSP00000467141.1:p.Thr16455Ile
ENST00000591111.5:c.44441C>T (TTN) ENSP00000465570.1:p.Thr14814Ile
ENST00000615779.4:c.44441C>T (TTN) ENSP00000483597.1:p.Thr14814Ile
NM_001256850.1:c.44441C>T (TTN) NP_001243779.1:p.Thr14814Ile
NM_001267550.2:c.49364C>T (TTN) MANE Select NP_001254479.2:p.Thr16455Ile
NM_003319.4:c.22169C>T (TTN) NP_003310.4:p.Thr7390Ile
NM_133378.4:c.41660C>T (TTN) NP_596869.4:p.Thr13887Ile
NM_133432.3:c.22544C>T (TTN) NP_597676.3:p.Thr7515Ile
NM_133437.4:c.22745C>T (TTN) NP_597681.4:p.Thr7582Ile
NR_038271.1:n.783-116G>A (TTN-AS1)
XM_011511729.1:c.48461C>T (TTN) XP_011510031.1:p.Thr16154Ile
XM_011511730.1:c.22355C>T (TTN) XP_011510032.1:p.Thr7452Ile
XM_011511731.1:c.22214C>T (TTN) XP_011510033.1:p.Thr7405Ile
XM_017004819.1:c.48257C>T (TTN) XP_016860308.1:p.Thr16086Ile
XM_017004820.1:c.43655C>T (TTN) XP_016860309.1:p.Thr14552Ile
XM_017004821.1:c.43652C>T (TTN) XP_016860310.1:p.Thr14551Ile
XM_017004822.1:c.40694C>T (TTN) XP_016860311.1:p.Thr13565Ile
XM_017004823.1:c.22310C>T (TTN) XP_016860312.1:p.Thr7437Ile
XM_024453094.1:c.43805C>T (TTN) XP_024308862.1:p.Thr14602Ile
XM_024453095.1:c.43802C>T (TTN) XP_024308863.1:p.Thr14601Ile
XM_024453096.1:c.43235C>T (TTN) XP_024308864.1:p.Thr14412Ile
XM_024453097.1:c.40577C>T (TTN) XP_024308865.1:p.Thr13526Ile
XM_024453098.1:c.40496C>T (TTN) XP_024308866.1:p.Thr13499Ile
XM_024453099.1:c.22259C>T (TTN) XP_024308867.1:p.Thr7420Ile
XM_024453100.1:c.12113C>T (TTN) XP_024308868.1:p.Thr4038Ile