Canonical Allele Identifier: CA349442600
Community Standard Title: NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586679C>A , CM000664.2:g.178586679C>A GRCh38
NC_000002.11:g.179451406C>A , CM000664.1:g.179451406C>A GRCh37
NC_000002.10:g.179159652C>A NCBI36
NG_011618.3:g.249124G>T , LRG_391:g.249124G>T
NG_051363.1:g.68853C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64222G>T (TTN) MANE Select NP_001254479.2:p.Glu21408Ter
ENST00000589042.5:c.64222G>T (TTN) MANE Select ENSP00000467141.1:p.Glu21408Ter
NM_001256850.1:c.59299G>T (TTN) NP_001243779.1:p.Glu19767Ter
NM_003319.4:c.37027G>T (TTN) NP_003310.4:p.Glu12343Ter
NM_133378.4:c.56518G>T (TTN) NP_596869.4:p.Glu18840Ter
NM_133432.3:c.37402G>T (TTN) NP_597676.3:p.Glu12468Ter
NM_133437.4:c.37603G>T (TTN) NP_597681.4:p.Glu12535Ter
NR_038271.1:n.597-10917C>A (TTN-AS1)
NR_038272.1:n.3188+1686C>A (TTN-AS1)
ENST00000342175.10:c.37603G>T (TTN) ENSP00000340554.6:p.Glu12535Ter
ENST00000342175.11:c.37603G>T (TTN) ENSP00000340554.6:p.Glu12535Ter
ENST00000342992.10:c.56518G>T (TTN) ENSP00000343764.6:p.Glu18840Ter
ENST00000342992.11:c.56518G>T (TTN) ENSP00000343764.6:p.Glu18840Ter
ENST00000359218.10:c.37402G>T (TTN) ENSP00000352154.5:p.Glu12468Ter
ENST00000359218.9:c.37402G>T (TTN) ENSP00000352154.5:p.Glu12468Ter
ENST00000460472.6:c.37027G>T (TTN) ENSP00000434586.1:p.Glu12343Ter
ENST00000591111.5:c.59299G>T (TTN) ENSP00000465570.1:p.Glu19767Ter
ENST00000615779.4:c.59299G>T (TTN) ENSP00000483597.1:p.Glu19767Ter
XM_011511729.1:c.63319G>T (TTN) XP_011510031.1:p.Glu21107Ter
XM_011511730.1:c.37213G>T (TTN) XP_011510032.1:p.Glu12405Ter
XM_011511731.1:c.37072G>T (TTN) XP_011510033.1:p.Glu12358Ter
XM_017004819.1:c.63115G>T (TTN) XP_016860308.1:p.Glu21039Ter
XM_017004820.1:c.58513G>T (TTN) XP_016860309.1:p.Glu19505Ter
XM_017004821.1:c.58510G>T (TTN) XP_016860310.1:p.Glu19504Ter
XM_017004822.1:c.55552G>T (TTN) XP_016860311.1:p.Glu18518Ter
XM_017004823.1:c.37168G>T (TTN) XP_016860312.1:p.Glu12390Ter
XM_024453094.1:c.58663G>T (TTN) XP_024308862.1:p.Glu19555Ter
XM_024453095.1:c.58660G>T (TTN) XP_024308863.1:p.Glu19554Ter
XM_024453096.1:c.58093G>T (TTN) XP_024308864.1:p.Glu19365Ter
XM_024453097.1:c.55435G>T (TTN) XP_024308865.1:p.Glu18479Ter
XM_024453098.1:c.55354G>T (TTN) XP_024308866.1:p.Glu18452Ter
XM_024453099.1:c.37117G>T (TTN) XP_024308867.1:p.Glu12373Ter
XM_024453100.1:c.26971G>T (TTN) XP_024308868.1:p.Glu8991Ter