Canonical Allele Identifier: CA349532892
Community Standard Title: NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557323A>C , CM000664.2:g.178557323A>C GRCh38
NC_000002.11:g.179422050A>C , CM000664.1:g.179422050A>C GRCh37
NC_000002.10:g.179130296A>C NCBI36
NG_011618.3:g.278480T>G , LRG_391:g.278480T>G
NG_051363.1:g.39497A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.87939T>G (TTN) MANE Select NP_001254479.2:p.Tyr29313Ter
ENST00000589042.5:c.87939T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr29313Ter
NM_001256850.1:c.83016T>G (TTN) NP_001243779.1:p.Tyr27672Ter
NM_003319.4:c.60744T>G (TTN) NP_003310.4:p.Tyr20248Ter
NM_133378.4:c.80235T>G (TTN) NP_596869.4:p.Tyr26745Ter
NM_133432.3:c.61119T>G (TTN) NP_597676.3:p.Tyr20373Ter
NM_133437.4:c.61320T>G (TTN) NP_597681.4:p.Tyr20440Ter
NR_038271.1:n.447-13977A>C (TTN-AS1)
NR_038272.1:n.2043+14962A>C (TTN-AS1)
ENST00000342175.10:c.61320T>G (TTN) ENSP00000340554.6:p.Tyr20440Ter
ENST00000342175.11:c.61320T>G (TTN) ENSP00000340554.6:p.Tyr20440Ter
ENST00000342992.10:c.80235T>G (TTN) ENSP00000343764.6:p.Tyr26745Ter
ENST00000342992.11:c.80235T>G (TTN) ENSP00000343764.6:p.Tyr26745Ter
ENST00000359218.10:c.61119T>G (TTN) ENSP00000352154.5:p.Tyr20373Ter
ENST00000359218.9:c.61119T>G (TTN) ENSP00000352154.5:p.Tyr20373Ter
ENST00000460472.6:c.60744T>G (TTN) ENSP00000434586.1:p.Tyr20248Ter
ENST00000591111.5:c.83016T>G (TTN) ENSP00000465570.1:p.Tyr27672Ter
ENST00000615779.4:c.83016T>G (TTN) ENSP00000483597.1:p.Tyr27672Ter
XM_011511729.1:c.87036T>G (TTN) XP_011510031.1:p.Tyr29012Ter
XM_011511730.1:c.60930T>G (TTN) XP_011510032.1:p.Tyr20310Ter
XM_011511731.1:c.60789T>G (TTN) XP_011510033.1:p.Tyr20263Ter
XM_017004819.1:c.86832T>G (TTN) XP_016860308.1:p.Tyr28944Ter
XM_017004820.1:c.82230T>G (TTN) XP_016860309.1:p.Tyr27410Ter
XM_017004821.1:c.82227T>G (TTN) XP_016860310.1:p.Tyr27409Ter
XM_017004822.1:c.79269T>G (TTN) XP_016860311.1:p.Tyr26423Ter
XM_017004823.1:c.60885T>G (TTN) XP_016860312.1:p.Tyr20295Ter
XM_024453094.1:c.82380T>G (TTN) XP_024308862.1:p.Tyr27460Ter
XM_024453095.1:c.82377T>G (TTN) XP_024308863.1:p.Tyr27459Ter
XM_024453096.1:c.81810T>G (TTN) XP_024308864.1:p.Tyr27270Ter
XM_024453097.1:c.79152T>G (TTN) XP_024308865.1:p.Tyr26384Ter
XM_024453098.1:c.79071T>G (TTN) XP_024308866.1:p.Tyr26357Ter
XM_024453099.1:c.60834T>G (TTN) XP_024308867.1:p.Tyr20278Ter
XM_024453100.1:c.50688T>G (TTN) XP_024308868.1:p.Tyr16896Ter