Canonical Allele Identifier: CA349660615
Community Standard Title: NM_001267550.2(TTN):c.41329G>C (p.Glu13777Gln)
Gene: TTN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41329G>C MANE Select NP_001254479.2:p.Glu13777Gln
ENST00000589042.5:c.41329G>C MANE Select ENSP00000467141.1:p.Glu13777Gln
NM_001256850.1:c.36406G>C NP_001243779.1:p.Glu12136Gln
NM_003319.4:c.14134G>C NP_003310.4:p.Glu4712Gln
NM_133378.4:c.33625G>C NP_596869.4:p.Glu11209Gln
NM_133432.3:c.14509G>C NP_597676.3:p.Glu4837Gln
NM_133437.4:c.14710G>C NP_597681.4:p.Glu4904Gln
ENST00000342175.10:c.14710G>C ENSP00000340554.6:p.Glu4904Gln
ENST00000342175.11:c.14710G>C ENSP00000340554.6:p.Glu4904Gln
ENST00000342992.10:c.33625G>C ENSP00000343764.6:p.Glu11209Gln
ENST00000342992.11:c.33625G>C ENSP00000343764.6:p.Glu11209Gln
ENST00000359218.10:c.14509G>C ENSP00000352154.5:p.Glu4837Gln
ENST00000359218.9:c.14509G>C ENSP00000352154.5:p.Glu4837Gln
ENST00000460472.6:c.14134G>C ENSP00000434586.1:p.Glu4712Gln
ENST00000591111.5:c.36406G>C ENSP00000465570.1:p.Glu12136Gln
ENST00000615779.4:c.36406G>C ENSP00000483597.1:p.Glu12136Gln
XM_011511729.1:c.40426G>C XP_011510031.1:p.Glu13476Gln
XM_011511730.1:c.14320G>C XP_011510032.1:p.Glu4774Gln
XM_011511731.1:c.14179G>C XP_011510033.1:p.Glu4727Gln
XM_017004819.1:c.40222G>C XP_016860308.1:p.Glu13408Gln
XM_017004820.1:c.35620G>C XP_016860309.1:p.Glu11874Gln
XM_017004821.1:c.35617G>C XP_016860310.1:p.Glu11873Gln
XM_017004822.1:c.32659G>C XP_016860311.1:p.Glu10887Gln
XM_017004823.1:c.14275G>C XP_016860312.1:p.Glu4759Gln
XM_024453094.1:c.35770G>C XP_024308862.1:p.Glu11924Gln
XM_024453095.1:c.35767G>C XP_024308863.1:p.Glu11923Gln
XM_024453096.1:c.35200G>C XP_024308864.1:p.Glu11734Gln
XM_024453097.1:c.32542G>C XP_024308865.1:p.Glu10848Gln
XM_024453098.1:c.32461G>C XP_024308866.1:p.Glu10821Gln
XM_024453099.1:c.14224G>C XP_024308867.1:p.Glu4742Gln
XM_024453100.1:c.4078G>C XP_024308868.1:p.Glu1360Gln