Canonical Allele Identifier: CA349427910
Community Standard Title: NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537624G>A , CM000664.2:g.178537624G>A GRCh38
NC_000002.11:g.179402351G>A , CM000664.1:g.179402351G>A GRCh37
NC_000002.10:g.179110597G>A NCBI36
NG_011618.3:g.298179C>T , LRG_391:g.298179C>T
NG_051363.1:g.19798G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99583C>T (TTN) MANE Select NP_001254479.2:p.Gln33195Ter
ENST00000589042.5:c.99583C>T (TTN) MANE Select ENSP00000467141.1:p.Gln33195Ter
NM_001256850.1:c.94660C>T (TTN) NP_001243779.1:p.Gln31554Ter
NM_003319.4:c.72388C>T (TTN) NP_003310.4:p.Gln24130Ter
NM_133378.4:c.91879C>T (TTN) NP_596869.4:p.Gln30627Ter
NM_133432.3:c.72763C>T (TTN) NP_597676.3:p.Gln24255Ter
NM_133437.4:c.72964C>T (TTN) NP_597681.4:p.Gln24322Ter
NR_038271.1:n.446+13988G>A (TTN-AS1)
NR_038272.1:n.580G>A (TTN-AS1)
ENST00000342175.10:c.72964C>T (TTN) ENSP00000340554.6:p.Gln24322Ter
ENST00000342175.11:c.72964C>T (TTN) ENSP00000340554.6:p.Gln24322Ter
ENST00000342992.10:c.91879C>T (TTN) ENSP00000343764.6:p.Gln30627Ter
ENST00000342992.11:c.91879C>T (TTN) ENSP00000343764.6:p.Gln30627Ter
ENST00000359218.10:c.72763C>T (TTN) ENSP00000352154.5:p.Gln24255Ter
ENST00000359218.9:c.72763C>T (TTN) ENSP00000352154.5:p.Gln24255Ter
ENST00000460472.6:c.72388C>T (TTN) ENSP00000434586.1:p.Gln24130Ter
ENST00000591111.5:c.94660C>T (TTN) ENSP00000465570.1:p.Gln31554Ter
ENST00000615779.4:c.94660C>T (TTN) ENSP00000483597.1:p.Gln31554Ter
XM_011511729.1:c.98680C>T (TTN) XP_011510031.1:p.Gln32894Ter
XM_011511730.1:c.72574C>T (TTN) XP_011510032.1:p.Gln24192Ter
XM_011511731.1:c.72433C>T (TTN) XP_011510033.1:p.Gln24145Ter
XM_017004819.1:c.98476C>T (TTN) XP_016860308.1:p.Gln32826Ter
XM_017004820.1:c.93874C>T (TTN) XP_016860309.1:p.Gln31292Ter
XM_017004821.1:c.93871C>T (TTN) XP_016860310.1:p.Gln31291Ter
XM_017004822.1:c.90913C>T (TTN) XP_016860311.1:p.Gln30305Ter
XM_017004823.1:c.72529C>T (TTN) XP_016860312.1:p.Gln24177Ter
XM_024453094.1:c.94024C>T (TTN) XP_024308862.1:p.Gln31342Ter
XM_024453095.1:c.94021C>T (TTN) XP_024308863.1:p.Gln31341Ter
XM_024453096.1:c.93454C>T (TTN) XP_024308864.1:p.Gln31152Ter
XM_024453097.1:c.90796C>T (TTN) XP_024308865.1:p.Gln30266Ter
XM_024453098.1:c.90715C>T (TTN) XP_024308866.1:p.Gln30239Ter
XM_024453099.1:c.72478C>T (TTN) XP_024308867.1:p.Gln24160Ter
XM_024453100.1:c.62332C>T (TTN) XP_024308868.1:p.Gln20778Ter