Canonical Allele Identifier: CA349411959

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532277T>A , CM000664.2:g.178532277T>A GRCh38
NC_000002.11:g.179397004T>A , CM000664.1:g.179397004T>A GRCh37
NC_000002.10:g.179105250T>A NCBI36
NG_011618.3:g.303526A>T , LRG_391:g.303526A>T
NG_051363.1:g.14451T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96634A>T (TTN) ENSP00000343764.6:p.Thr32212Ser
ENST00000342175.11:c.77719A>T (TTN) ENSP00000340554.6:p.Thr25907Ser
ENST00000359218.10:c.77518A>T (TTN) ENSP00000352154.5:p.Thr25840Ser
ENST00000342175.10:c.77719A>T (TTN) ENSP00000340554.6:p.Thr25907Ser
ENST00000342992.10:c.96634A>T (TTN) ENSP00000343764.6:p.Thr32212Ser
ENST00000359218.9:c.77518A>T (TTN) ENSP00000352154.5:p.Thr25840Ser
ENST00000460472.6:c.77143A>T (TTN) ENSP00000434586.1:p.Thr25715Ser
ENST00000589042.5:c.104338A>T (TTN) MANE Select ENSP00000467141.1:p.Thr34780Ser
ENST00000591111.5:c.99415A>T (TTN) ENSP00000465570.1:p.Thr33139Ser
ENST00000615779.4:c.99415A>T (TTN) ENSP00000483597.1:p.Thr33139Ser
NM_001256850.1:c.99415A>T (TTN) NP_001243779.1:p.Thr33139Ser
NM_001267550.2:c.104338A>T (TTN) MANE Select NP_001254479.2:p.Thr34780Ser
NM_003319.4:c.77143A>T (TTN) NP_003310.4:p.Thr25715Ser
NM_133378.4:c.96634A>T (TTN) NP_596869.4:p.Thr32212Ser
NM_133432.3:c.77518A>T (TTN) NP_597676.3:p.Thr25840Ser
NM_133437.4:c.77719A>T (TTN) NP_597681.4:p.Thr25907Ser
NR_038271.1:n.446+8641T>A (TTN-AS1)
NR_038272.1:n.220-3455T>A (TTN-AS1)
XM_011511729.1:c.103435A>T (TTN) XP_011510031.1:p.Thr34479Ser
XM_011511730.1:c.77329A>T (TTN) XP_011510032.1:p.Thr25777Ser
XM_011511731.1:c.77188A>T (TTN) XP_011510033.1:p.Thr25730Ser
XM_017004819.1:c.103231A>T (TTN) XP_016860308.1:p.Thr34411Ser
XM_017004820.1:c.98629A>T (TTN) XP_016860309.1:p.Thr32877Ser
XM_017004821.1:c.98626A>T (TTN) XP_016860310.1:p.Thr32876Ser
XM_017004822.1:c.95668A>T (TTN) XP_016860311.1:p.Thr31890Ser
XM_017004823.1:c.77284A>T (TTN) XP_016860312.1:p.Thr25762Ser
XM_024453094.1:c.98779A>T (TTN) XP_024308862.1:p.Thr32927Ser
XM_024453095.1:c.98776A>T (TTN) XP_024308863.1:p.Thr32926Ser
XM_024453096.1:c.98209A>T (TTN) XP_024308864.1:p.Thr32737Ser
XM_024453097.1:c.95551A>T (TTN) XP_024308865.1:p.Thr31851Ser
XM_024453098.1:c.95470A>T (TTN) XP_024308866.1:p.Thr31824Ser
XM_024453099.1:c.77233A>T (TTN) XP_024308867.1:p.Thr25745Ser
XM_024453100.1:c.67087A>T (TTN) XP_024308868.1:p.Thr22363Ser