Canonical Allele Identifier: CA430251058
Community Standard Title: NM_001267550.2(TTN):c.81777T>C (p.Asp27259=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564355A>G , CM000664.2:g.178564355A>G GRCh38
NC_000002.11:g.179429082A>G , CM000664.1:g.179429082A>G GRCh37
NC_000002.10:g.179137328A>G NCBI36
NG_011618.3:g.271448T>C , LRG_391:g.271448T>C
NG_051363.1:g.46529A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81777T>C (TTN) MANE Select NP_001254479.2:p.Asp27259=
ENST00000589042.5:c.81777T>C (TTN) MANE Select ENSP00000467141.1:p.Asp27259=
NM_001256850.1:c.76854T>C (TTN) NP_001243779.1:p.Asp25618=
NM_003319.4:c.54582T>C (TTN) NP_003310.4:p.Asp18194=
NM_133378.4:c.74073T>C (TTN) NP_596869.4:p.Asp24691=
NM_133432.3:c.54957T>C (TTN) NP_597676.3:p.Asp18319=
NM_133437.4:c.55158T>C (TTN) NP_597681.4:p.Asp18386=
NR_038271.1:n.447-6945A>G (TTN-AS1)
NR_038272.1:n.2044-18217A>G (TTN-AS1)
ENST00000342175.10:c.55158T>C (TTN) ENSP00000340554.6:p.Asp18386=
ENST00000342175.11:c.55158T>C (TTN) ENSP00000340554.6:p.Asp18386=
ENST00000342992.10:c.74073T>C (TTN) ENSP00000343764.6:p.Asp24691=
ENST00000342992.11:c.74073T>C (TTN) ENSP00000343764.6:p.Asp24691=
ENST00000359218.10:c.54957T>C (TTN) ENSP00000352154.5:p.Asp18319=
ENST00000359218.9:c.54957T>C (TTN) ENSP00000352154.5:p.Asp18319=
ENST00000460472.6:c.54582T>C (TTN) ENSP00000434586.1:p.Asp18194=
ENST00000591111.5:c.76854T>C (TTN) ENSP00000465570.1:p.Asp25618=
ENST00000615779.4:c.76854T>C (TTN) ENSP00000483597.1:p.Asp25618=
XM_011511729.1:c.80874T>C (TTN) XP_011510031.1:p.Asp26958=
XM_011511730.1:c.54768T>C (TTN) XP_011510032.1:p.Asp18256=
XM_011511731.1:c.54627T>C (TTN) XP_011510033.1:p.Asp18209=
XM_017004819.1:c.80670T>C (TTN) XP_016860308.1:p.Asp26890=
XM_017004820.1:c.76068T>C (TTN) XP_016860309.1:p.Asp25356=
XM_017004821.1:c.76065T>C (TTN) XP_016860310.1:p.Asp25355=
XM_017004822.1:c.73107T>C (TTN) XP_016860311.1:p.Asp24369=
XM_017004823.1:c.54723T>C (TTN) XP_016860312.1:p.Asp18241=
XM_024453094.1:c.76218T>C (TTN) XP_024308862.1:p.Asp25406=
XM_024453095.1:c.76215T>C (TTN) XP_024308863.1:p.Asp25405=
XM_024453096.1:c.75648T>C (TTN) XP_024308864.1:p.Asp25216=
XM_024453097.1:c.72990T>C (TTN) XP_024308865.1:p.Asp24330=
XM_024453098.1:c.72909T>C (TTN) XP_024308866.1:p.Asp24303=
XM_024453099.1:c.54672T>C (TTN) XP_024308867.1:p.Asp18224=
XM_024453100.1:c.44526T>C (TTN) XP_024308868.1:p.Asp14842=