Canonical Allele Identifier: CA349523842
Community Standard Title: NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178598548G>C , CM000664.2:g.178598548G>C GRCh38
NC_000002.11:g.179463275G>C , CM000664.1:g.179463275G>C GRCh37
NC_000002.10:g.179171520G>C NCBI36
NG_011618.3:g.237255C>G , LRG_391:g.237255C>G
NG_051363.1:g.80722G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57069C>G (TTN) MANE Select NP_001254479.2:p.Tyr19023Ter
ENST00000589042.5:c.57069C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr19023Ter
NM_001256850.1:c.52146C>G (TTN) NP_001243779.1:p.Tyr17382Ter
NM_003319.4:c.29874C>G (TTN) NP_003310.4:p.Tyr9958Ter
NM_133378.4:c.49365C>G (TTN) NP_596869.4:p.Tyr16455Ter
NM_133432.3:c.30249C>G (TTN) NP_597676.3:p.Tyr10083Ter
NM_133437.4:c.30450C>G (TTN) NP_597681.4:p.Tyr10150Ter
NR_038271.1:n.682+867G>C (TTN-AS1)
NR_038272.1:n.3451-8G>C (TTN-AS1)
ENST00000342175.10:c.30450C>G (TTN) ENSP00000340554.6:p.Tyr10150Ter
ENST00000342175.11:c.30450C>G (TTN) ENSP00000340554.6:p.Tyr10150Ter
ENST00000342992.10:c.49365C>G (TTN) ENSP00000343764.6:p.Tyr16455Ter
ENST00000342992.11:c.49365C>G (TTN) ENSP00000343764.6:p.Tyr16455Ter
ENST00000359218.10:c.30249C>G (TTN) ENSP00000352154.5:p.Tyr10083Ter
ENST00000359218.9:c.30249C>G (TTN) ENSP00000352154.5:p.Tyr10083Ter
ENST00000460472.6:c.29874C>G (TTN) ENSP00000434586.1:p.Tyr9958Ter
ENST00000591111.5:c.52146C>G (TTN) ENSP00000465570.1:p.Tyr17382Ter
ENST00000615779.4:c.52146C>G (TTN) ENSP00000483597.1:p.Tyr17382Ter
XM_011511729.1:c.56166C>G (TTN) XP_011510031.1:p.Tyr18722Ter
XM_011511730.1:c.30060C>G (TTN) XP_011510032.1:p.Tyr10020Ter
XM_011511731.1:c.29919C>G (TTN) XP_011510033.1:p.Tyr9973Ter
XM_017004819.1:c.55962C>G (TTN) XP_016860308.1:p.Tyr18654Ter
XM_017004820.1:c.51360C>G (TTN) XP_016860309.1:p.Tyr17120Ter
XM_017004821.1:c.51357C>G (TTN) XP_016860310.1:p.Tyr17119Ter
XM_017004822.1:c.48399C>G (TTN) XP_016860311.1:p.Tyr16133Ter
XM_017004823.1:c.30015C>G (TTN) XP_016860312.1:p.Tyr10005Ter
XM_024453094.1:c.51510C>G (TTN) XP_024308862.1:p.Tyr17170Ter
XM_024453095.1:c.51507C>G (TTN) XP_024308863.1:p.Tyr17169Ter
XM_024453096.1:c.50940C>G (TTN) XP_024308864.1:p.Tyr16980Ter
XM_024453097.1:c.48282C>G (TTN) XP_024308865.1:p.Tyr16094Ter
XM_024453098.1:c.48201C>G (TTN) XP_024308866.1:p.Tyr16067Ter
XM_024453099.1:c.29964C>G (TTN) XP_024308867.1:p.Tyr9988Ter
XM_024453100.1:c.19818C>G (TTN) XP_024308868.1:p.Tyr6606Ter