Canonical Allele Identifier: CA349638795
Community Standard Title: NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178622714C>A , CM000664.2:g.178622714C>A GRCh38
NC_000002.11:g.179487441C>A , CM000664.1:g.179487441C>A GRCh37
NC_000002.10:g.179195686C>A NCBI36
NG_011618.3:g.213089G>T , LRG_391:g.213089G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44869G>T MANE Select NP_001254479.2:p.Glu14957Ter
ENST00000589042.5:c.44869G>T MANE Select ENSP00000467141.1:p.Glu14957Ter
NM_001256850.1:c.39946G>T NP_001243779.1:p.Glu13316Ter
NM_003319.4:c.17674G>T NP_003310.4:p.Glu5892Ter
NM_133378.4:c.37165G>T NP_596869.4:p.Glu12389Ter
NM_133432.3:c.18049G>T NP_597676.3:p.Glu6017Ter
NM_133437.4:c.18250G>T NP_597681.4:p.Glu6084Ter
ENST00000342175.10:c.18250G>T ENSP00000340554.6:p.Glu6084Ter
ENST00000342175.11:c.18250G>T ENSP00000340554.6:p.Glu6084Ter
ENST00000342992.10:c.37165G>T ENSP00000343764.6:p.Glu12389Ter
ENST00000342992.11:c.37165G>T ENSP00000343764.6:p.Glu12389Ter
ENST00000359218.10:c.18049G>T ENSP00000352154.5:p.Glu6017Ter
ENST00000359218.9:c.18049G>T ENSP00000352154.5:p.Glu6017Ter
ENST00000460472.6:c.17674G>T ENSP00000434586.1:p.Glu5892Ter
ENST00000591111.5:c.39946G>T ENSP00000465570.1:p.Glu13316Ter
ENST00000615779.4:c.39946G>T ENSP00000483597.1:p.Glu13316Ter
XM_011511729.1:c.43966G>T XP_011510031.1:p.Glu14656Ter
XM_011511730.1:c.17860G>T XP_011510032.1:p.Glu5954Ter
XM_011511731.1:c.17719G>T XP_011510033.1:p.Glu5907Ter
XM_017004819.1:c.43762G>T XP_016860308.1:p.Glu14588Ter
XM_017004820.1:c.39160G>T XP_016860309.1:p.Glu13054Ter
XM_017004821.1:c.39157G>T XP_016860310.1:p.Glu13053Ter
XM_017004822.1:c.36199G>T XP_016860311.1:p.Glu12067Ter
XM_017004823.1:c.17815G>T XP_016860312.1:p.Glu5939Ter
XM_024453094.1:c.39310G>T XP_024308862.1:p.Glu13104Ter
XM_024453095.1:c.39307G>T XP_024308863.1:p.Glu13103Ter
XM_024453096.1:c.38740G>T XP_024308864.1:p.Glu12914Ter
XM_024453097.1:c.36082G>T XP_024308865.1:p.Glu12028Ter
XM_024453098.1:c.36001G>T XP_024308866.1:p.Glu12001Ter
XM_024453099.1:c.17764G>T XP_024308867.1:p.Glu5922Ter
XM_024453100.1:c.7618G>T XP_024308868.1:p.Glu2540Ter