Canonical Allele Identifier: CA349540573
Community Standard Title: NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178558548C>A , CM000664.2:g.178558548C>A GRCh38
NC_000002.11:g.179423275C>A , CM000664.1:g.179423275C>A GRCh37
NC_000002.10:g.179131521C>A NCBI36
NG_011618.3:g.277255G>T , LRG_391:g.277255G>T
NG_051363.1:g.40722C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86911G>T (TTN) MANE Select NP_001254479.2:p.Gly28971Ter
ENST00000589042.5:c.86911G>T (TTN) MANE Select ENSP00000467141.1:p.Gly28971Ter
NM_001256850.1:c.81988G>T (TTN) NP_001243779.1:p.Gly27330Ter
NM_003319.4:c.59716G>T (TTN) NP_003310.4:p.Gly19906Ter
NM_133378.4:c.79207G>T (TTN) NP_596869.4:p.Gly26403Ter
NM_133432.3:c.60091G>T (TTN) NP_597676.3:p.Gly20031Ter
NM_133437.4:c.60292G>T (TTN) NP_597681.4:p.Gly20098Ter
NR_038271.1:n.447-12752C>A (TTN-AS1)
NR_038272.1:n.2043+16187C>A (TTN-AS1)
ENST00000342175.10:c.60292G>T (TTN) ENSP00000340554.6:p.Gly20098Ter
ENST00000342175.11:c.60292G>T (TTN) ENSP00000340554.6:p.Gly20098Ter
ENST00000342992.10:c.79207G>T (TTN) ENSP00000343764.6:p.Gly26403Ter
ENST00000342992.11:c.79207G>T (TTN) ENSP00000343764.6:p.Gly26403Ter
ENST00000359218.10:c.60091G>T (TTN) ENSP00000352154.5:p.Gly20031Ter
ENST00000359218.9:c.60091G>T (TTN) ENSP00000352154.5:p.Gly20031Ter
ENST00000460472.6:c.59716G>T (TTN) ENSP00000434586.1:p.Gly19906Ter
ENST00000591111.5:c.81988G>T (TTN) ENSP00000465570.1:p.Gly27330Ter
ENST00000615779.4:c.81988G>T (TTN) ENSP00000483597.1:p.Gly27330Ter
XM_011511729.1:c.86008G>T (TTN) XP_011510031.1:p.Gly28670Ter
XM_011511730.1:c.59902G>T (TTN) XP_011510032.1:p.Gly19968Ter
XM_011511731.1:c.59761G>T (TTN) XP_011510033.1:p.Gly19921Ter
XM_017004819.1:c.85804G>T (TTN) XP_016860308.1:p.Gly28602Ter
XM_017004820.1:c.81202G>T (TTN) XP_016860309.1:p.Gly27068Ter
XM_017004821.1:c.81199G>T (TTN) XP_016860310.1:p.Gly27067Ter
XM_017004822.1:c.78241G>T (TTN) XP_016860311.1:p.Gly26081Ter
XM_017004823.1:c.59857G>T (TTN) XP_016860312.1:p.Gly19953Ter
XM_024453094.1:c.81352G>T (TTN) XP_024308862.1:p.Gly27118Ter
XM_024453095.1:c.81349G>T (TTN) XP_024308863.1:p.Gly27117Ter
XM_024453096.1:c.80782G>T (TTN) XP_024308864.1:p.Gly26928Ter
XM_024453097.1:c.78124G>T (TTN) XP_024308865.1:p.Gly26042Ter
XM_024453098.1:c.78043G>T (TTN) XP_024308866.1:p.Gly26015Ter
XM_024453099.1:c.59806G>T (TTN) XP_024308867.1:p.Gly19936Ter
XM_024453100.1:c.49660G>T (TTN) XP_024308868.1:p.Gly16554Ter