Canonical Allele Identifier: CA349660613
Community Standard Title: NM_001267550.2(TTN):c.41329G>T (p.Glu13777Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636398C>A , CM000664.2:g.178636398C>A GRCh38
NC_000002.11:g.179501125C>A , CM000664.1:g.179501125C>A GRCh37
NC_000002.10:g.179209370C>A NCBI36
NG_011618.3:g.199405G>T , LRG_391:g.199405G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41329G>T MANE Select NP_001254479.2:p.Glu13777Ter
ENST00000589042.5:c.41329G>T MANE Select ENSP00000467141.1:p.Glu13777Ter
NM_001256850.1:c.36406G>T NP_001243779.1:p.Glu12136Ter
NM_003319.4:c.14134G>T NP_003310.4:p.Glu4712Ter
NM_133378.4:c.33625G>T NP_596869.4:p.Glu11209Ter
NM_133432.3:c.14509G>T NP_597676.3:p.Glu4837Ter
NM_133437.4:c.14710G>T NP_597681.4:p.Glu4904Ter
ENST00000342175.10:c.14710G>T ENSP00000340554.6:p.Glu4904Ter
ENST00000342175.11:c.14710G>T ENSP00000340554.6:p.Glu4904Ter
ENST00000342992.10:c.33625G>T ENSP00000343764.6:p.Glu11209Ter
ENST00000342992.11:c.33625G>T ENSP00000343764.6:p.Glu11209Ter
ENST00000359218.10:c.14509G>T ENSP00000352154.5:p.Glu4837Ter
ENST00000359218.9:c.14509G>T ENSP00000352154.5:p.Glu4837Ter
ENST00000460472.6:c.14134G>T ENSP00000434586.1:p.Glu4712Ter
ENST00000591111.5:c.36406G>T ENSP00000465570.1:p.Glu12136Ter
ENST00000615779.4:c.36406G>T ENSP00000483597.1:p.Glu12136Ter
XM_011511729.1:c.40426G>T XP_011510031.1:p.Glu13476Ter
XM_011511730.1:c.14320G>T XP_011510032.1:p.Glu4774Ter
XM_011511731.1:c.14179G>T XP_011510033.1:p.Glu4727Ter
XM_017004819.1:c.40222G>T XP_016860308.1:p.Glu13408Ter
XM_017004820.1:c.35620G>T XP_016860309.1:p.Glu11874Ter
XM_017004821.1:c.35617G>T XP_016860310.1:p.Glu11873Ter
XM_017004822.1:c.32659G>T XP_016860311.1:p.Glu10887Ter
XM_017004823.1:c.14275G>T XP_016860312.1:p.Glu4759Ter
XM_024453094.1:c.35770G>T XP_024308862.1:p.Glu11924Ter
XM_024453095.1:c.35767G>T XP_024308863.1:p.Glu11923Ter
XM_024453096.1:c.35200G>T XP_024308864.1:p.Glu11734Ter
XM_024453097.1:c.32542G>T XP_024308865.1:p.Glu10848Ter
XM_024453098.1:c.32461G>T XP_024308866.1:p.Glu10821Ter
XM_024453099.1:c.14224G>T XP_024308867.1:p.Glu4742Ter
XM_024453100.1:c.4078G>T XP_024308868.1:p.Glu1360Ter