Canonical Allele Identifier: CA349411731

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532177G>A , CM000664.2:g.178532177G>A GRCh38
NC_000002.11:g.179396904G>A , CM000664.1:g.179396904G>A GRCh37
NC_000002.10:g.179105150G>A NCBI36
NG_011618.3:g.303626C>T , LRG_391:g.303626C>T
NG_051363.1:g.14351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96734C>T (TTN) ENSP00000343764.6:p.Thr32245Ile
ENST00000342175.11:c.77819C>T (TTN) ENSP00000340554.6:p.Thr25940Ile
ENST00000359218.10:c.77618C>T (TTN) ENSP00000352154.5:p.Thr25873Ile
ENST00000342175.10:c.77819C>T (TTN) ENSP00000340554.6:p.Thr25940Ile
ENST00000342992.10:c.96734C>T (TTN) ENSP00000343764.6:p.Thr32245Ile
ENST00000359218.9:c.77618C>T (TTN) ENSP00000352154.5:p.Thr25873Ile
ENST00000460472.6:c.77243C>T (TTN) ENSP00000434586.1:p.Thr25748Ile
ENST00000589042.5:c.104438C>T (TTN) MANE Select ENSP00000467141.1:p.Thr34813Ile
ENST00000591111.5:c.99515C>T (TTN) ENSP00000465570.1:p.Thr33172Ile
ENST00000615779.4:c.99515C>T (TTN) ENSP00000483597.1:p.Thr33172Ile
NM_001256850.1:c.99515C>T (TTN) NP_001243779.1:p.Thr33172Ile
NM_001267550.2:c.104438C>T (TTN) MANE Select NP_001254479.2:p.Thr34813Ile
NM_003319.4:c.77243C>T (TTN) NP_003310.4:p.Thr25748Ile
NM_133378.4:c.96734C>T (TTN) NP_596869.4:p.Thr32245Ile
NM_133432.3:c.77618C>T (TTN) NP_597676.3:p.Thr25873Ile
NM_133437.4:c.77819C>T (TTN) NP_597681.4:p.Thr25940Ile
NR_038271.1:n.446+8541G>A (TTN-AS1)
NR_038272.1:n.220-3555G>A (TTN-AS1)
XM_011511729.1:c.103535C>T (TTN) XP_011510031.1:p.Thr34512Ile
XM_011511730.1:c.77429C>T (TTN) XP_011510032.1:p.Thr25810Ile
XM_011511731.1:c.77288C>T (TTN) XP_011510033.1:p.Thr25763Ile
XM_017004819.1:c.103331C>T (TTN) XP_016860308.1:p.Thr34444Ile
XM_017004820.1:c.98729C>T (TTN) XP_016860309.1:p.Thr32910Ile
XM_017004821.1:c.98726C>T (TTN) XP_016860310.1:p.Thr32909Ile
XM_017004822.1:c.95768C>T (TTN) XP_016860311.1:p.Thr31923Ile
XM_017004823.1:c.77384C>T (TTN) XP_016860312.1:p.Thr25795Ile
XM_024453094.1:c.98879C>T (TTN) XP_024308862.1:p.Thr32960Ile
XM_024453095.1:c.98876C>T (TTN) XP_024308863.1:p.Thr32959Ile
XM_024453096.1:c.98309C>T (TTN) XP_024308864.1:p.Thr32770Ile
XM_024453097.1:c.95651C>T (TTN) XP_024308865.1:p.Thr31884Ile
XM_024453098.1:c.95570C>T (TTN) XP_024308866.1:p.Thr31857Ile
XM_024453099.1:c.77333C>T (TTN) XP_024308867.1:p.Thr25778Ile
XM_024453100.1:c.67187C>T (TTN) XP_024308868.1:p.Thr22396Ile