Canonical Allele Identifier: CA1988851
Community Standard Title: NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562148T>G , CM000664.2:g.178562148T>G GRCh38
NC_000002.11:g.179426875T>G , CM000664.1:g.179426875T>G GRCh37
NC_000002.10:g.179135121T>G NCBI36
NG_011618.3:g.273655A>C , LRG_391:g.273655A>C
NG_051363.1:g.44322T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83984A>C (TTN) MANE Select NP_001254479.2:p.Asn27995Thr
ENST00000589042.5:c.83984A>C (TTN) MANE Select ENSP00000467141.1:p.Asn27995Thr
NM_001256850.1:c.79061A>C (TTN) NP_001243779.1:p.Asn26354Thr
NM_003319.4:c.56789A>C (TTN) NP_003310.4:p.Asn18930Thr
NM_133378.4:c.76280A>C (TTN) NP_596869.4:p.Asn25427Thr
NM_133432.3:c.57164A>C (TTN) NP_597676.3:p.Asn19055Thr
NM_133437.4:c.57365A>C (TTN) NP_597681.4:p.Asn19122Thr
NR_038271.1:n.447-9152T>G (TTN-AS1)
NR_038272.1:n.2043+19787T>G (TTN-AS1)
ENST00000342175.10:c.57365A>C (TTN) ENSP00000340554.6:p.Asn19122Thr
ENST00000342175.11:c.57365A>C (TTN) ENSP00000340554.6:p.Asn19122Thr
ENST00000342992.10:c.76280A>C (TTN) ENSP00000343764.6:p.Asn25427Thr
ENST00000342992.11:c.76280A>C (TTN) ENSP00000343764.6:p.Asn25427Thr
ENST00000359218.10:c.57164A>C (TTN) ENSP00000352154.5:p.Asn19055Thr
ENST00000359218.9:c.57164A>C (TTN) ENSP00000352154.5:p.Asn19055Thr
ENST00000460472.6:c.56789A>C (TTN) ENSP00000434586.1:p.Asn18930Thr
ENST00000591111.5:c.79061A>C (TTN) ENSP00000465570.1:p.Asn26354Thr
ENST00000615779.4:c.79061A>C (TTN) ENSP00000483597.1:p.Asn26354Thr
XM_011511729.1:c.83081A>C (TTN) XP_011510031.1:p.Asn27694Thr
XM_011511730.1:c.56975A>C (TTN) XP_011510032.1:p.Asn18992Thr
XM_011511731.1:c.56834A>C (TTN) XP_011510033.1:p.Asn18945Thr
XM_017004819.1:c.82877A>C (TTN) XP_016860308.1:p.Asn27626Thr
XM_017004820.1:c.78275A>C (TTN) XP_016860309.1:p.Asn26092Thr
XM_017004821.1:c.78272A>C (TTN) XP_016860310.1:p.Asn26091Thr
XM_017004822.1:c.75314A>C (TTN) XP_016860311.1:p.Asn25105Thr
XM_017004823.1:c.56930A>C (TTN) XP_016860312.1:p.Asn18977Thr
XM_024453094.1:c.78425A>C (TTN) XP_024308862.1:p.Asn26142Thr
XM_024453095.1:c.78422A>C (TTN) XP_024308863.1:p.Asn26141Thr
XM_024453096.1:c.77855A>C (TTN) XP_024308864.1:p.Asn25952Thr
XM_024453097.1:c.75197A>C (TTN) XP_024308865.1:p.Asn25066Thr
XM_024453098.1:c.75116A>C (TTN) XP_024308866.1:p.Asn25039Thr
XM_024453099.1:c.56879A>C (TTN) XP_024308867.1:p.Asn18960Thr
XM_024453100.1:c.46733A>C (TTN) XP_024308868.1:p.Asn15578Thr