Canonical Allele Identifier: CA349655913
Community Standard Title: NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634777C>A , CM000664.2:g.178634777C>A GRCh38
NC_000002.11:g.179499504C>A , CM000664.1:g.179499504C>A GRCh37
NC_000002.10:g.179207749C>A NCBI36
NG_011618.3:g.201026G>T , LRG_391:g.201026G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42097G>T MANE Select NP_001254479.2:p.Glu14033Ter
ENST00000589042.5:c.42097G>T MANE Select ENSP00000467141.1:p.Glu14033Ter
NM_001256850.1:c.37174G>T NP_001243779.1:p.Glu12392Ter
NM_003319.4:c.14902G>T NP_003310.4:p.Glu4968Ter
NM_133378.4:c.34393G>T NP_596869.4:p.Glu11465Ter
NM_133432.3:c.15277G>T NP_597676.3:p.Glu5093Ter
NM_133437.4:c.15478G>T NP_597681.4:p.Glu5160Ter
ENST00000342175.10:c.15478G>T ENSP00000340554.6:p.Glu5160Ter
ENST00000342175.11:c.15478G>T ENSP00000340554.6:p.Glu5160Ter
ENST00000342992.10:c.34393G>T ENSP00000343764.6:p.Glu11465Ter
ENST00000342992.11:c.34393G>T ENSP00000343764.6:p.Glu11465Ter
ENST00000359218.10:c.15277G>T ENSP00000352154.5:p.Glu5093Ter
ENST00000359218.9:c.15277G>T ENSP00000352154.5:p.Glu5093Ter
ENST00000460472.6:c.14902G>T ENSP00000434586.1:p.Glu4968Ter
ENST00000591111.5:c.37174G>T ENSP00000465570.1:p.Glu12392Ter
ENST00000615779.4:c.37174G>T ENSP00000483597.1:p.Glu12392Ter
XM_011511729.1:c.41194G>T XP_011510031.1:p.Glu13732Ter
XM_011511730.1:c.15088G>T XP_011510032.1:p.Glu5030Ter
XM_011511731.1:c.14947G>T XP_011510033.1:p.Glu4983Ter
XM_017004819.1:c.40990G>T XP_016860308.1:p.Glu13664Ter
XM_017004820.1:c.36388G>T XP_016860309.1:p.Glu12130Ter
XM_017004821.1:c.36385G>T XP_016860310.1:p.Glu12129Ter
XM_017004822.1:c.33427G>T XP_016860311.1:p.Glu11143Ter
XM_017004823.1:c.15043G>T XP_016860312.1:p.Glu5015Ter
XM_024453094.1:c.36538G>T XP_024308862.1:p.Glu12180Ter
XM_024453095.1:c.36535G>T XP_024308863.1:p.Glu12179Ter
XM_024453096.1:c.35968G>T XP_024308864.1:p.Glu11990Ter
XM_024453097.1:c.33310G>T XP_024308865.1:p.Glu11104Ter
XM_024453098.1:c.33229G>T XP_024308866.1:p.Glu11077Ter
XM_024453099.1:c.14992G>T XP_024308867.1:p.Glu4998Ter
XM_024453100.1:c.4846G>T XP_024308868.1:p.Glu1616Ter