Canonical Allele Identifier: CA349428743
Community Standard Title: NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537845G>C , CM000664.2:g.178537845G>C GRCh38
NC_000002.11:g.179402572G>C , CM000664.1:g.179402572G>C GRCh37
NC_000002.10:g.179110818G>C NCBI36
NG_011618.3:g.297958C>G , LRG_391:g.297958C>G
NG_051363.1:g.20019G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99362C>G (TTN) MANE Select NP_001254479.2:p.Ser33121Ter
ENST00000589042.5:c.99362C>G (TTN) MANE Select ENSP00000467141.1:p.Ser33121Ter
NM_001256850.1:c.94439C>G (TTN) NP_001243779.1:p.Ser31480Ter
NM_003319.4:c.72167C>G (TTN) NP_003310.4:p.Ser24056Ter
NM_133378.4:c.91658C>G (TTN) NP_596869.4:p.Ser30553Ter
NM_133432.3:c.72542C>G (TTN) NP_597676.3:p.Ser24181Ter
NM_133437.4:c.72743C>G (TTN) NP_597681.4:p.Ser24248Ter
NR_038271.1:n.446+14209G>C (TTN-AS1)
NR_038272.1:n.647+154G>C (TTN-AS1)
ENST00000342175.10:c.72743C>G (TTN) ENSP00000340554.6:p.Ser24248Ter
ENST00000342175.11:c.72743C>G (TTN) ENSP00000340554.6:p.Ser24248Ter
ENST00000342992.10:c.91658C>G (TTN) ENSP00000343764.6:p.Ser30553Ter
ENST00000342992.11:c.91658C>G (TTN) ENSP00000343764.6:p.Ser30553Ter
ENST00000359218.10:c.72542C>G (TTN) ENSP00000352154.5:p.Ser24181Ter
ENST00000359218.9:c.72542C>G (TTN) ENSP00000352154.5:p.Ser24181Ter
ENST00000460472.6:c.72167C>G (TTN) ENSP00000434586.1:p.Ser24056Ter
ENST00000591111.5:c.94439C>G (TTN) ENSP00000465570.1:p.Ser31480Ter
ENST00000615779.4:c.94439C>G (TTN) ENSP00000483597.1:p.Ser31480Ter
XM_011511729.1:c.98459C>G (TTN) XP_011510031.1:p.Ser32820Ter
XM_011511730.1:c.72353C>G (TTN) XP_011510032.1:p.Ser24118Ter
XM_011511731.1:c.72212C>G (TTN) XP_011510033.1:p.Ser24071Ter
XM_017004819.1:c.98255C>G (TTN) XP_016860308.1:p.Ser32752Ter
XM_017004820.1:c.93653C>G (TTN) XP_016860309.1:p.Ser31218Ter
XM_017004821.1:c.93650C>G (TTN) XP_016860310.1:p.Ser31217Ter
XM_017004822.1:c.90692C>G (TTN) XP_016860311.1:p.Ser30231Ter
XM_017004823.1:c.72308C>G (TTN) XP_016860312.1:p.Ser24103Ter
XM_024453094.1:c.93803C>G (TTN) XP_024308862.1:p.Ser31268Ter
XM_024453095.1:c.93800C>G (TTN) XP_024308863.1:p.Ser31267Ter
XM_024453096.1:c.93233C>G (TTN) XP_024308864.1:p.Ser31078Ter
XM_024453097.1:c.90575C>G (TTN) XP_024308865.1:p.Ser30192Ter
XM_024453098.1:c.90494C>G (TTN) XP_024308866.1:p.Ser30165Ter
XM_024453099.1:c.72257C>G (TTN) XP_024308867.1:p.Ser24086Ter
XM_024453100.1:c.62111C>G (TTN) XP_024308868.1:p.Ser20704Ter