Canonical Allele Identifier: CA349594319

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566439C>T , CM000664.2:g.178566439C>T GRCh38
NC_000002.11:g.179431166C>T , CM000664.1:g.179431166C>T GRCh37
NC_000002.10:g.179139412C>T NCBI36
NG_011618.3:g.269364G>A , LRG_391:g.269364G>A
NG_051363.1:g.48613C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71989G>A (TTN) ENSP00000343764.6:p.Ala23997Thr
ENST00000342175.11:c.53074G>A (TTN) ENSP00000340554.6:p.Ala17692Thr
ENST00000359218.10:c.52873G>A (TTN) ENSP00000352154.5:p.Ala17625Thr
ENST00000342175.10:c.53074G>A (TTN) ENSP00000340554.6:p.Ala17692Thr
ENST00000342992.10:c.71989G>A (TTN) ENSP00000343764.6:p.Ala23997Thr
ENST00000359218.9:c.52873G>A (TTN) ENSP00000352154.5:p.Ala17625Thr
ENST00000460472.6:c.52498G>A (TTN) ENSP00000434586.1:p.Ala17500Thr
ENST00000589042.5:c.79693G>A (TTN) MANE Select ENSP00000467141.1:p.Ala26565Thr
ENST00000591111.5:c.74770G>A (TTN) ENSP00000465570.1:p.Ala24924Thr
ENST00000615779.4:c.74770G>A (TTN) ENSP00000483597.1:p.Ala24924Thr
NM_001256850.1:c.74770G>A (TTN) NP_001243779.1:p.Ala24924Thr
NM_001267550.2:c.79693G>A (TTN) MANE Select NP_001254479.2:p.Ala26565Thr
NM_003319.4:c.52498G>A (TTN) NP_003310.4:p.Ala17500Thr
NM_133378.4:c.71989G>A (TTN) NP_596869.4:p.Ala23997Thr
NM_133432.3:c.52873G>A (TTN) NP_597676.3:p.Ala17625Thr
NM_133437.4:c.53074G>A (TTN) NP_597681.4:p.Ala17692Thr
NR_038271.1:n.447-4861C>T (TTN-AS1)
NR_038272.1:n.2044-16133C>T (TTN-AS1)
XM_011511729.1:c.78790G>A (TTN) XP_011510031.1:p.Ala26264Thr
XM_011511730.1:c.52684G>A (TTN) XP_011510032.1:p.Ala17562Thr
XM_011511731.1:c.52543G>A (TTN) XP_011510033.1:p.Ala17515Thr
XM_017004819.1:c.78586G>A (TTN) XP_016860308.1:p.Ala26196Thr
XM_017004820.1:c.73984G>A (TTN) XP_016860309.1:p.Ala24662Thr
XM_017004821.1:c.73981G>A (TTN) XP_016860310.1:p.Ala24661Thr
XM_017004822.1:c.71023G>A (TTN) XP_016860311.1:p.Ala23675Thr
XM_017004823.1:c.52639G>A (TTN) XP_016860312.1:p.Ala17547Thr
XM_024453094.1:c.74134G>A (TTN) XP_024308862.1:p.Ala24712Thr
XM_024453095.1:c.74131G>A (TTN) XP_024308863.1:p.Ala24711Thr
XM_024453096.1:c.73564G>A (TTN) XP_024308864.1:p.Ala24522Thr
XM_024453097.1:c.70906G>A (TTN) XP_024308865.1:p.Ala23636Thr
XM_024453098.1:c.70825G>A (TTN) XP_024308866.1:p.Ala23609Thr
XM_024453099.1:c.52588G>A (TTN) XP_024308867.1:p.Ala17530Thr
XM_024453100.1:c.42442G>A (TTN) XP_024308868.1:p.Ala14148Thr