Canonical Allele Identifier: CA349664755
Community Standard Title: NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575999C>T , CM000664.2:g.178575999C>T GRCh38
NC_000002.11:g.179440726C>T , CM000664.1:g.179440726C>T GRCh37
NC_000002.10:g.179148972C>T NCBI36
NG_011618.3:g.259804G>A , LRG_391:g.259804G>A
NG_051363.1:g.58173C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70133G>A (TTN) MANE Select NP_001254479.2:p.Trp23378Ter
ENST00000589042.5:c.70133G>A (TTN) MANE Select ENSP00000467141.1:p.Trp23378Ter
NM_001256850.1:c.65210G>A (TTN) NP_001243779.1:p.Trp21737Ter
NM_003319.4:c.42938G>A (TTN) NP_003310.4:p.Trp14313Ter
NM_133378.4:c.62429G>A (TTN) NP_596869.4:p.Trp20810Ter
NM_133432.3:c.43313G>A (TTN) NP_597676.3:p.Trp14438Ter
NM_133437.4:c.43514G>A (TTN) NP_597681.4:p.Trp14505Ter
NR_038271.1:n.596+4550C>T (TTN-AS1)
NR_038272.1:n.2044-6573C>T (TTN-AS1)
ENST00000342175.10:c.43514G>A (TTN) ENSP00000340554.6:p.Trp14505Ter
ENST00000342175.11:c.43514G>A (TTN) ENSP00000340554.6:p.Trp14505Ter
ENST00000342992.10:c.62429G>A (TTN) ENSP00000343764.6:p.Trp20810Ter
ENST00000342992.11:c.62429G>A (TTN) ENSP00000343764.6:p.Trp20810Ter
ENST00000359218.10:c.43313G>A (TTN) ENSP00000352154.5:p.Trp14438Ter
ENST00000359218.9:c.43313G>A (TTN) ENSP00000352154.5:p.Trp14438Ter
ENST00000460472.6:c.42938G>A (TTN) ENSP00000434586.1:p.Trp14313Ter
ENST00000591111.5:c.65210G>A (TTN) ENSP00000465570.1:p.Trp21737Ter
ENST00000615779.4:c.65210G>A (TTN) ENSP00000483597.1:p.Trp21737Ter
XM_011511729.1:c.69230G>A (TTN) XP_011510031.1:p.Trp23077Ter
XM_011511730.1:c.43124G>A (TTN) XP_011510032.1:p.Trp14375Ter
XM_011511731.1:c.42983G>A (TTN) XP_011510033.1:p.Trp14328Ter
XM_017004819.1:c.69026G>A (TTN) XP_016860308.1:p.Trp23009Ter
XM_017004820.1:c.64424G>A (TTN) XP_016860309.1:p.Trp21475Ter
XM_017004821.1:c.64421G>A (TTN) XP_016860310.1:p.Trp21474Ter
XM_017004822.1:c.61463G>A (TTN) XP_016860311.1:p.Trp20488Ter
XM_017004823.1:c.43079G>A (TTN) XP_016860312.1:p.Trp14360Ter
XM_024453094.1:c.64574G>A (TTN) XP_024308862.1:p.Trp21525Ter
XM_024453095.1:c.64571G>A (TTN) XP_024308863.1:p.Trp21524Ter
XM_024453096.1:c.64004G>A (TTN) XP_024308864.1:p.Trp21335Ter
XM_024453097.1:c.61346G>A (TTN) XP_024308865.1:p.Trp20449Ter
XM_024453098.1:c.61265G>A (TTN) XP_024308866.1:p.Trp20422Ter
XM_024453099.1:c.43028G>A (TTN) XP_024308867.1:p.Trp14343Ter
XM_024453100.1:c.32882G>A (TTN) XP_024308868.1:p.Trp10961Ter