Canonical Allele Identifier: CA349510737

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552458T>A , CM000664.2:g.178552458T>A GRCh38
NC_000002.11:g.179417185T>A , CM000664.1:g.179417185T>A GRCh37
NC_000002.10:g.179125431T>A NCBI36
NG_011618.3:g.283345A>T , LRG_391:g.283345A>T
NG_051363.1:g.34632T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82738A>T (TTN) ENSP00000343764.6:p.Asn27580Tyr
ENST00000342175.11:c.63823A>T (TTN) ENSP00000340554.6:p.Asn21275Tyr
ENST00000359218.10:c.63622A>T (TTN) ENSP00000352154.5:p.Asn21208Tyr
ENST00000342175.10:c.63823A>T (TTN) ENSP00000340554.6:p.Asn21275Tyr
ENST00000342992.10:c.82738A>T (TTN) ENSP00000343764.6:p.Asn27580Tyr
ENST00000359218.9:c.63622A>T (TTN) ENSP00000352154.5:p.Asn21208Tyr
ENST00000460472.6:c.63247A>T (TTN) ENSP00000434586.1:p.Asn21083Tyr
ENST00000589042.5:c.90442A>T (TTN) MANE Select ENSP00000467141.1:p.Asn30148Tyr
ENST00000591111.5:c.85519A>T (TTN) ENSP00000465570.1:p.Asn28507Tyr
ENST00000615779.4:c.85519A>T (TTN) ENSP00000483597.1:p.Asn28507Tyr
NM_001256850.1:c.85519A>T (TTN) NP_001243779.1:p.Asn28507Tyr
NM_001267550.2:c.90442A>T (TTN) MANE Select NP_001254479.2:p.Asn30148Tyr
NM_003319.4:c.63247A>T (TTN) NP_003310.4:p.Asn21083Tyr
NM_133378.4:c.82738A>T (TTN) NP_596869.4:p.Asn27580Tyr
NM_133432.3:c.63622A>T (TTN) NP_597676.3:p.Asn21208Tyr
NM_133437.4:c.63823A>T (TTN) NP_597681.4:p.Asn21275Tyr
NR_038271.1:n.447-18842T>A (TTN-AS1)
NR_038272.1:n.2043+10097T>A (TTN-AS1)
XM_011511729.1:c.89539A>T (TTN) XP_011510031.1:p.Asn29847Tyr
XM_011511730.1:c.63433A>T (TTN) XP_011510032.1:p.Asn21145Tyr
XM_011511731.1:c.63292A>T (TTN) XP_011510033.1:p.Asn21098Tyr
XM_017004819.1:c.89335A>T (TTN) XP_016860308.1:p.Asn29779Tyr
XM_017004820.1:c.84733A>T (TTN) XP_016860309.1:p.Asn28245Tyr
XM_017004821.1:c.84730A>T (TTN) XP_016860310.1:p.Asn28244Tyr
XM_017004822.1:c.81772A>T (TTN) XP_016860311.1:p.Asn27258Tyr
XM_017004823.1:c.63388A>T (TTN) XP_016860312.1:p.Asn21130Tyr
XM_024453094.1:c.84883A>T (TTN) XP_024308862.1:p.Asn28295Tyr
XM_024453095.1:c.84880A>T (TTN) XP_024308863.1:p.Asn28294Tyr
XM_024453096.1:c.84313A>T (TTN) XP_024308864.1:p.Asn28105Tyr
XM_024453097.1:c.81655A>T (TTN) XP_024308865.1:p.Asn27219Tyr
XM_024453098.1:c.81574A>T (TTN) XP_024308866.1:p.Asn27192Tyr
XM_024453099.1:c.63337A>T (TTN) XP_024308867.1:p.Asn21113Tyr
XM_024453100.1:c.53191A>T (TTN) XP_024308868.1:p.Asn17731Tyr