Canonical Allele Identifier: CA1985671
Community Standard Title: NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533630C>T , CM000664.2:g.178533630C>T GRCh38
NC_000002.11:g.179398357C>T , CM000664.1:g.179398357C>T GRCh37
NC_000002.10:g.179106603C>T NCBI36
NG_011618.3:g.302173G>A , LRG_391:g.302173G>A
NG_051363.1:g.15804C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102985G>A (TTN) MANE Select NP_001254479.2:p.Ala34329Thr
ENST00000589042.5:c.102985G>A (TTN) MANE Select ENSP00000467141.1:p.Ala34329Thr
NM_001256850.1:c.98062G>A (TTN) NP_001243779.1:p.Ala32688Thr
NM_003319.4:c.75790G>A (TTN) NP_003310.4:p.Ala25264Thr
NM_133378.4:c.95281G>A (TTN) NP_596869.4:p.Ala31761Thr
NM_133432.3:c.76165G>A (TTN) NP_597676.3:p.Ala25389Thr
NM_133437.4:c.76366G>A (TTN) NP_597681.4:p.Ala25456Thr
NR_038271.1:n.446+9994C>T (TTN-AS1)
NR_038272.1:n.220-2102C>T (TTN-AS1)
ENST00000342175.10:c.76366G>A (TTN) ENSP00000340554.6:p.Ala25456Thr
ENST00000342175.11:c.76366G>A (TTN) ENSP00000340554.6:p.Ala25456Thr
ENST00000342992.10:c.95281G>A (TTN) ENSP00000343764.6:p.Ala31761Thr
ENST00000342992.11:c.95281G>A (TTN) ENSP00000343764.6:p.Ala31761Thr
ENST00000359218.10:c.76165G>A (TTN) ENSP00000352154.5:p.Ala25389Thr
ENST00000359218.9:c.76165G>A (TTN) ENSP00000352154.5:p.Ala25389Thr
ENST00000460472.6:c.75790G>A (TTN) ENSP00000434586.1:p.Ala25264Thr
ENST00000591111.5:c.98062G>A (TTN) ENSP00000465570.1:p.Ala32688Thr
ENST00000615779.4:c.98062G>A (TTN) ENSP00000483597.1:p.Ala32688Thr
XM_011511729.1:c.102082G>A (TTN) XP_011510031.1:p.Ala34028Thr
XM_011511730.1:c.75976G>A (TTN) XP_011510032.1:p.Ala25326Thr
XM_011511731.1:c.75835G>A (TTN) XP_011510033.1:p.Ala25279Thr
XM_017004819.1:c.101878G>A (TTN) XP_016860308.1:p.Ala33960Thr
XM_017004820.1:c.97276G>A (TTN) XP_016860309.1:p.Ala32426Thr
XM_017004821.1:c.97273G>A (TTN) XP_016860310.1:p.Ala32425Thr
XM_017004822.1:c.94315G>A (TTN) XP_016860311.1:p.Ala31439Thr
XM_017004823.1:c.75931G>A (TTN) XP_016860312.1:p.Ala25311Thr
XM_024453094.1:c.97426G>A (TTN) XP_024308862.1:p.Ala32476Thr
XM_024453095.1:c.97423G>A (TTN) XP_024308863.1:p.Ala32475Thr
XM_024453096.1:c.96856G>A (TTN) XP_024308864.1:p.Ala32286Thr
XM_024453097.1:c.94198G>A (TTN) XP_024308865.1:p.Ala31400Thr
XM_024453098.1:c.94117G>A (TTN) XP_024308866.1:p.Ala31373Thr
XM_024453099.1:c.75880G>A (TTN) XP_024308867.1:p.Ala25294Thr
XM_024453100.1:c.65734G>A (TTN) XP_024308868.1:p.Ala21912Thr