Canonical Allele Identifier: CA349529701
Community Standard Title: NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599298C>T , CM000664.2:g.178599298C>T GRCh38
NC_000002.11:g.179464025C>T , CM000664.1:g.179464025C>T GRCh37
NC_000002.10:g.179172270C>T NCBI36
NG_011618.3:g.236505G>A , LRG_391:g.236505G>A
NG_051363.1:g.81472C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56495G>A (TTN) MANE Select NP_001254479.2:p.Trp18832Ter
ENST00000589042.5:c.56495G>A (TTN) MANE Select ENSP00000467141.1:p.Trp18832Ter
NM_001256850.1:c.51572G>A (TTN) NP_001243779.1:p.Trp17191Ter
NM_003319.4:c.29300G>A (TTN) NP_003310.4:p.Trp9767Ter
NM_133378.4:c.48791G>A (TTN) NP_596869.4:p.Trp16264Ter
NM_133432.3:c.29675G>A (TTN) NP_597676.3:p.Trp9892Ter
NM_133437.4:c.29876G>A (TTN) NP_597681.4:p.Trp9959Ter
NR_038271.1:n.682+1617C>T (TTN-AS1)
NR_038272.1:n.3569-296C>T (TTN-AS1)
ENST00000342175.10:c.29876G>A (TTN) ENSP00000340554.6:p.Trp9959Ter
ENST00000342175.11:c.29876G>A (TTN) ENSP00000340554.6:p.Trp9959Ter
ENST00000342992.10:c.48791G>A (TTN) ENSP00000343764.6:p.Trp16264Ter
ENST00000342992.11:c.48791G>A (TTN) ENSP00000343764.6:p.Trp16264Ter
ENST00000359218.10:c.29675G>A (TTN) ENSP00000352154.5:p.Trp9892Ter
ENST00000359218.9:c.29675G>A (TTN) ENSP00000352154.5:p.Trp9892Ter
ENST00000460472.6:c.29300G>A (TTN) ENSP00000434586.1:p.Trp9767Ter
ENST00000591111.5:c.51572G>A (TTN) ENSP00000465570.1:p.Trp17191Ter
ENST00000615779.4:c.51572G>A (TTN) ENSP00000483597.1:p.Trp17191Ter
XM_011511729.1:c.55592G>A (TTN) XP_011510031.1:p.Trp18531Ter
XM_011511730.1:c.29486G>A (TTN) XP_011510032.1:p.Trp9829Ter
XM_011511731.1:c.29345G>A (TTN) XP_011510033.1:p.Trp9782Ter
XM_017004819.1:c.55388G>A (TTN) XP_016860308.1:p.Trp18463Ter
XM_017004820.1:c.50786G>A (TTN) XP_016860309.1:p.Trp16929Ter
XM_017004821.1:c.50783G>A (TTN) XP_016860310.1:p.Trp16928Ter
XM_017004822.1:c.47825G>A (TTN) XP_016860311.1:p.Trp15942Ter
XM_017004823.1:c.29441G>A (TTN) XP_016860312.1:p.Trp9814Ter
XM_024453094.1:c.50936G>A (TTN) XP_024308862.1:p.Trp16979Ter
XM_024453095.1:c.50933G>A (TTN) XP_024308863.1:p.Trp16978Ter
XM_024453096.1:c.50366G>A (TTN) XP_024308864.1:p.Trp16789Ter
XM_024453097.1:c.47708G>A (TTN) XP_024308865.1:p.Trp15903Ter
XM_024453098.1:c.47627G>A (TTN) XP_024308866.1:p.Trp15876Ter
XM_024453099.1:c.29390G>A (TTN) XP_024308867.1:p.Trp9797Ter
XM_024453100.1:c.19244G>A (TTN) XP_024308868.1:p.Trp6415Ter