Canonical Allele Identifier: CA349538050
Community Standard Title: NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178558175G>C , CM000664.2:g.178558175G>C GRCh38
NC_000002.11:g.179422902G>C , CM000664.1:g.179422902G>C GRCh37
NC_000002.10:g.179131148G>C NCBI36
NG_011618.3:g.277628C>G , LRG_391:g.277628C>G
NG_051363.1:g.40349G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.87179C>G (TTN) MANE Select NP_001254479.2:p.Ser29060Ter
ENST00000589042.5:c.87179C>G (TTN) MANE Select ENSP00000467141.1:p.Ser29060Ter
NM_001256850.1:c.82256C>G (TTN) NP_001243779.1:p.Ser27419Ter
NM_003319.4:c.59984C>G (TTN) NP_003310.4:p.Ser19995Ter
NM_133378.4:c.79475C>G (TTN) NP_596869.4:p.Ser26492Ter
NM_133432.3:c.60359C>G (TTN) NP_597676.3:p.Ser20120Ter
NM_133437.4:c.60560C>G (TTN) NP_597681.4:p.Ser20187Ter
NR_038271.1:n.447-13125G>C (TTN-AS1)
NR_038272.1:n.2043+15814G>C (TTN-AS1)
ENST00000342175.10:c.60560C>G (TTN) ENSP00000340554.6:p.Ser20187Ter
ENST00000342175.11:c.60560C>G (TTN) ENSP00000340554.6:p.Ser20187Ter
ENST00000342992.10:c.79475C>G (TTN) ENSP00000343764.6:p.Ser26492Ter
ENST00000342992.11:c.79475C>G (TTN) ENSP00000343764.6:p.Ser26492Ter
ENST00000359218.10:c.60359C>G (TTN) ENSP00000352154.5:p.Ser20120Ter
ENST00000359218.9:c.60359C>G (TTN) ENSP00000352154.5:p.Ser20120Ter
ENST00000460472.6:c.59984C>G (TTN) ENSP00000434586.1:p.Ser19995Ter
ENST00000591111.5:c.82256C>G (TTN) ENSP00000465570.1:p.Ser27419Ter
ENST00000615779.4:c.82256C>G (TTN) ENSP00000483597.1:p.Ser27419Ter
XM_011511729.1:c.86276C>G (TTN) XP_011510031.1:p.Ser28759Ter
XM_011511730.1:c.60170C>G (TTN) XP_011510032.1:p.Ser20057Ter
XM_011511731.1:c.60029C>G (TTN) XP_011510033.1:p.Ser20010Ter
XM_017004819.1:c.86072C>G (TTN) XP_016860308.1:p.Ser28691Ter
XM_017004820.1:c.81470C>G (TTN) XP_016860309.1:p.Ser27157Ter
XM_017004821.1:c.81467C>G (TTN) XP_016860310.1:p.Ser27156Ter
XM_017004822.1:c.78509C>G (TTN) XP_016860311.1:p.Ser26170Ter
XM_017004823.1:c.60125C>G (TTN) XP_016860312.1:p.Ser20042Ter
XM_024453094.1:c.81620C>G (TTN) XP_024308862.1:p.Ser27207Ter
XM_024453095.1:c.81617C>G (TTN) XP_024308863.1:p.Ser27206Ter
XM_024453096.1:c.81050C>G (TTN) XP_024308864.1:p.Ser27017Ter
XM_024453097.1:c.78392C>G (TTN) XP_024308865.1:p.Ser26131Ter
XM_024453098.1:c.78311C>G (TTN) XP_024308866.1:p.Ser26104Ter
XM_024453099.1:c.60074C>G (TTN) XP_024308867.1:p.Ser20025Ter
XM_024453100.1:c.49928C>G (TTN) XP_024308868.1:p.Ser16643Ter