Canonical Allele Identifier: CA1985067
Community Standard Title: NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178529166T>G , CM000664.2:g.178529166T>G GRCh38
NC_000002.11:g.179393893T>G , CM000664.1:g.179393893T>G GRCh37
NC_000002.10:g.179102139T>G NCBI36
NG_011618.3:g.306637A>C , LRG_391:g.306637A>C
NG_051363.1:g.11340T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106585A>C (TTN) MANE Select NP_001254479.2:p.Thr35529Pro
ENST00000589042.5:c.106585A>C (TTN) MANE Select ENSP00000467141.1:p.Thr35529Pro
NM_001256850.1:c.101662A>C (TTN) NP_001243779.1:p.Thr33888Pro
NM_003319.4:c.79390A>C (TTN) NP_003310.4:p.Thr26464Pro
NM_133378.4:c.98881A>C (TTN) NP_596869.4:p.Thr32961Pro
NM_133432.3:c.79765A>C (TTN) NP_597676.3:p.Thr26589Pro
NM_133437.4:c.79966A>C (TTN) NP_597681.4:p.Thr26656Pro
NR_038271.1:n.446+5530T>G (TTN-AS1)
NR_038272.1:n.219+5530T>G (TTN-AS1)
ENST00000342175.10:c.79966A>C (TTN) ENSP00000340554.6:p.Thr26656Pro
ENST00000342175.11:c.79966A>C (TTN) ENSP00000340554.6:p.Thr26656Pro
ENST00000342992.10:c.98881A>C (TTN) ENSP00000343764.6:p.Thr32961Pro
ENST00000342992.11:c.98881A>C (TTN) ENSP00000343764.6:p.Thr32961Pro
ENST00000359218.10:c.79765A>C (TTN) ENSP00000352154.5:p.Thr26589Pro
ENST00000359218.9:c.79765A>C (TTN) ENSP00000352154.5:p.Thr26589Pro
ENST00000460472.6:c.79390A>C (TTN) ENSP00000434586.1:p.Thr26464Pro
ENST00000591111.5:c.101662A>C (TTN) ENSP00000465570.1:p.Thr33888Pro
ENST00000615779.4:c.101662A>C (TTN) ENSP00000483597.1:p.Thr33888Pro
XM_011511729.1:c.105682A>C (TTN) XP_011510031.1:p.Thr35228Pro
XM_011511730.1:c.79576A>C (TTN) XP_011510032.1:p.Thr26526Pro
XM_011511731.1:c.79435A>C (TTN) XP_011510033.1:p.Thr26479Pro
XM_017004819.1:c.105478A>C (TTN) XP_016860308.1:p.Thr35160Pro
XM_017004820.1:c.100876A>C (TTN) XP_016860309.1:p.Thr33626Pro
XM_017004821.1:c.100873A>C (TTN) XP_016860310.1:p.Thr33625Pro
XM_017004822.1:c.97915A>C (TTN) XP_016860311.1:p.Thr32639Pro
XM_017004823.1:c.79531A>C (TTN) XP_016860312.1:p.Thr26511Pro
XM_024453094.1:c.101026A>C (TTN) XP_024308862.1:p.Thr33676Pro
XM_024453095.1:c.101023A>C (TTN) XP_024308863.1:p.Thr33675Pro
XM_024453096.1:c.100456A>C (TTN) XP_024308864.1:p.Thr33486Pro
XM_024453097.1:c.97798A>C (TTN) XP_024308865.1:p.Thr32600Pro
XM_024453098.1:c.97717A>C (TTN) XP_024308866.1:p.Thr32573Pro
XM_024453099.1:c.79480A>C (TTN) XP_024308867.1:p.Thr26494Pro
XM_024453100.1:c.69334A>C (TTN) XP_024308868.1:p.Thr23112Pro