Canonical Allele Identifier: CA349636306
Community Standard Title: NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572193G>A , CM000664.2:g.178572193G>A GRCh38
NC_000002.11:g.179436920G>A , CM000664.1:g.179436920G>A GRCh37
NC_000002.10:g.179145166G>A NCBI36
NG_011618.3:g.263610C>T , LRG_391:g.263610C>T
NG_051363.1:g.54367G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73939C>T (TTN) MANE Select NP_001254479.2:p.Arg24647Ter
ENST00000589042.5:c.73939C>T (TTN) MANE Select ENSP00000467141.1:p.Arg24647Ter
NM_001256850.1:c.69016C>T (TTN) NP_001243779.1:p.Arg23006Ter
NM_003319.4:c.46744C>T (TTN) NP_003310.4:p.Arg15582Ter
NM_133378.4:c.66235C>T (TTN) NP_596869.4:p.Arg22079Ter
NM_133432.3:c.47119C>T (TTN) NP_597676.3:p.Arg15707Ter
NM_133437.4:c.47320C>T (TTN) NP_597681.4:p.Arg15774Ter
NR_038271.1:n.596+744G>A (TTN-AS1)
NR_038272.1:n.2044-10379G>A (TTN-AS1)
ENST00000342175.10:c.47320C>T (TTN) ENSP00000340554.6:p.Arg15774Ter
ENST00000342175.11:c.47320C>T (TTN) ENSP00000340554.6:p.Arg15774Ter
ENST00000342992.10:c.66235C>T (TTN) ENSP00000343764.6:p.Arg22079Ter
ENST00000342992.11:c.66235C>T (TTN) ENSP00000343764.6:p.Arg22079Ter
ENST00000359218.10:c.47119C>T (TTN) ENSP00000352154.5:p.Arg15707Ter
ENST00000359218.9:c.47119C>T (TTN) ENSP00000352154.5:p.Arg15707Ter
ENST00000460472.6:c.46744C>T (TTN) ENSP00000434586.1:p.Arg15582Ter
ENST00000591111.5:c.69016C>T (TTN) ENSP00000465570.1:p.Arg23006Ter
ENST00000615779.4:c.69016C>T (TTN) ENSP00000483597.1:p.Arg23006Ter
XM_011511729.1:c.73036C>T (TTN) XP_011510031.1:p.Arg24346Ter
XM_011511730.1:c.46930C>T (TTN) XP_011510032.1:p.Arg15644Ter
XM_011511731.1:c.46789C>T (TTN) XP_011510033.1:p.Arg15597Ter
XM_017004819.1:c.72832C>T (TTN) XP_016860308.1:p.Arg24278Ter
XM_017004820.1:c.68230C>T (TTN) XP_016860309.1:p.Arg22744Ter
XM_017004821.1:c.68227C>T (TTN) XP_016860310.1:p.Arg22743Ter
XM_017004822.1:c.65269C>T (TTN) XP_016860311.1:p.Arg21757Ter
XM_017004823.1:c.46885C>T (TTN) XP_016860312.1:p.Arg15629Ter
XM_024453094.1:c.68380C>T (TTN) XP_024308862.1:p.Arg22794Ter
XM_024453095.1:c.68377C>T (TTN) XP_024308863.1:p.Arg22793Ter
XM_024453096.1:c.67810C>T (TTN) XP_024308864.1:p.Arg22604Ter
XM_024453097.1:c.65152C>T (TTN) XP_024308865.1:p.Arg21718Ter
XM_024453098.1:c.65071C>T (TTN) XP_024308866.1:p.Arg21691Ter
XM_024453099.1:c.46834C>T (TTN) XP_024308867.1:p.Arg15612Ter
XM_024453100.1:c.36688C>T (TTN) XP_024308868.1:p.Arg12230Ter