Canonical Allele Identifier: CA349534715
Community Standard Title: NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557649G>C , CM000664.2:g.178557649G>C GRCh38
NC_000002.11:g.179422376G>C , CM000664.1:g.179422376G>C GRCh37
NC_000002.10:g.179130622G>C NCBI36
NG_011618.3:g.278154C>G , LRG_391:g.278154C>G
NG_051363.1:g.39823G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.87705C>G (TTN) MANE Select NP_001254479.2:p.Tyr29235Ter
ENST00000589042.5:c.87705C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr29235Ter
NM_001256850.1:c.82782C>G (TTN) NP_001243779.1:p.Tyr27594Ter
NM_003319.4:c.60510C>G (TTN) NP_003310.4:p.Tyr20170Ter
NM_133378.4:c.80001C>G (TTN) NP_596869.4:p.Tyr26667Ter
NM_133432.3:c.60885C>G (TTN) NP_597676.3:p.Tyr20295Ter
NM_133437.4:c.61086C>G (TTN) NP_597681.4:p.Tyr20362Ter
NR_038271.1:n.447-13651G>C (TTN-AS1)
NR_038272.1:n.2043+15288G>C (TTN-AS1)
ENST00000342175.10:c.61086C>G (TTN) ENSP00000340554.6:p.Tyr20362Ter
ENST00000342175.11:c.61086C>G (TTN) ENSP00000340554.6:p.Tyr20362Ter
ENST00000342992.10:c.80001C>G (TTN) ENSP00000343764.6:p.Tyr26667Ter
ENST00000342992.11:c.80001C>G (TTN) ENSP00000343764.6:p.Tyr26667Ter
ENST00000359218.10:c.60885C>G (TTN) ENSP00000352154.5:p.Tyr20295Ter
ENST00000359218.9:c.60885C>G (TTN) ENSP00000352154.5:p.Tyr20295Ter
ENST00000460472.6:c.60510C>G (TTN) ENSP00000434586.1:p.Tyr20170Ter
ENST00000591111.5:c.82782C>G (TTN) ENSP00000465570.1:p.Tyr27594Ter
ENST00000615779.4:c.82782C>G (TTN) ENSP00000483597.1:p.Tyr27594Ter
XM_011511729.1:c.86802C>G (TTN) XP_011510031.1:p.Tyr28934Ter
XM_011511730.1:c.60696C>G (TTN) XP_011510032.1:p.Tyr20232Ter
XM_011511731.1:c.60555C>G (TTN) XP_011510033.1:p.Tyr20185Ter
XM_017004819.1:c.86598C>G (TTN) XP_016860308.1:p.Tyr28866Ter
XM_017004820.1:c.81996C>G (TTN) XP_016860309.1:p.Tyr27332Ter
XM_017004821.1:c.81993C>G (TTN) XP_016860310.1:p.Tyr27331Ter
XM_017004822.1:c.79035C>G (TTN) XP_016860311.1:p.Tyr26345Ter
XM_017004823.1:c.60651C>G (TTN) XP_016860312.1:p.Tyr20217Ter
XM_024453094.1:c.82146C>G (TTN) XP_024308862.1:p.Tyr27382Ter
XM_024453095.1:c.82143C>G (TTN) XP_024308863.1:p.Tyr27381Ter
XM_024453096.1:c.81576C>G (TTN) XP_024308864.1:p.Tyr27192Ter
XM_024453097.1:c.78918C>G (TTN) XP_024308865.1:p.Tyr26306Ter
XM_024453098.1:c.78837C>G (TTN) XP_024308866.1:p.Tyr26279Ter
XM_024453099.1:c.60600C>G (TTN) XP_024308867.1:p.Tyr20200Ter
XM_024453100.1:c.50454C>G (TTN) XP_024308868.1:p.Tyr16818Ter