Canonical Allele Identifier: CA349535972
Community Standard Title: NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557849G>A , CM000664.2:g.178557849G>A GRCh38
NC_000002.11:g.179422576G>A , CM000664.1:g.179422576G>A GRCh37
NC_000002.10:g.179130822G>A NCBI36
NG_011618.3:g.277954C>T , LRG_391:g.277954C>T
NG_051363.1:g.40023G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.87505C>T (TTN) MANE Select NP_001254479.2:p.Gln29169Ter
ENST00000589042.5:c.87505C>T (TTN) MANE Select ENSP00000467141.1:p.Gln29169Ter
NM_001256850.1:c.82582C>T (TTN) NP_001243779.1:p.Gln27528Ter
NM_003319.4:c.60310C>T (TTN) NP_003310.4:p.Gln20104Ter
NM_133378.4:c.79801C>T (TTN) NP_596869.4:p.Gln26601Ter
NM_133432.3:c.60685C>T (TTN) NP_597676.3:p.Gln20229Ter
NM_133437.4:c.60886C>T (TTN) NP_597681.4:p.Gln20296Ter
NR_038271.1:n.447-13451G>A (TTN-AS1)
NR_038272.1:n.2043+15488G>A (TTN-AS1)
ENST00000342175.10:c.60886C>T (TTN) ENSP00000340554.6:p.Gln20296Ter
ENST00000342175.11:c.60886C>T (TTN) ENSP00000340554.6:p.Gln20296Ter
ENST00000342992.10:c.79801C>T (TTN) ENSP00000343764.6:p.Gln26601Ter
ENST00000342992.11:c.79801C>T (TTN) ENSP00000343764.6:p.Gln26601Ter
ENST00000359218.10:c.60685C>T (TTN) ENSP00000352154.5:p.Gln20229Ter
ENST00000359218.9:c.60685C>T (TTN) ENSP00000352154.5:p.Gln20229Ter
ENST00000460472.6:c.60310C>T (TTN) ENSP00000434586.1:p.Gln20104Ter
ENST00000591111.5:c.82582C>T (TTN) ENSP00000465570.1:p.Gln27528Ter
ENST00000615779.4:c.82582C>T (TTN) ENSP00000483597.1:p.Gln27528Ter
XM_011511729.1:c.86602C>T (TTN) XP_011510031.1:p.Gln28868Ter
XM_011511730.1:c.60496C>T (TTN) XP_011510032.1:p.Gln20166Ter
XM_011511731.1:c.60355C>T (TTN) XP_011510033.1:p.Gln20119Ter
XM_017004819.1:c.86398C>T (TTN) XP_016860308.1:p.Gln28800Ter
XM_017004820.1:c.81796C>T (TTN) XP_016860309.1:p.Gln27266Ter
XM_017004821.1:c.81793C>T (TTN) XP_016860310.1:p.Gln27265Ter
XM_017004822.1:c.78835C>T (TTN) XP_016860311.1:p.Gln26279Ter
XM_017004823.1:c.60451C>T (TTN) XP_016860312.1:p.Gln20151Ter
XM_024453094.1:c.81946C>T (TTN) XP_024308862.1:p.Gln27316Ter
XM_024453095.1:c.81943C>T (TTN) XP_024308863.1:p.Gln27315Ter
XM_024453096.1:c.81376C>T (TTN) XP_024308864.1:p.Gln27126Ter
XM_024453097.1:c.78718C>T (TTN) XP_024308865.1:p.Gln26240Ter
XM_024453098.1:c.78637C>T (TTN) XP_024308866.1:p.Gln26213Ter
XM_024453099.1:c.60400C>T (TTN) XP_024308867.1:p.Gln20134Ter
XM_024453100.1:c.50254C>T (TTN) XP_024308868.1:p.Gln16752Ter