Canonical Allele Identifier: CA349457946
Community Standard Title: NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178588715C>A , CM000664.2:g.178588715C>A GRCh38
NC_000002.11:g.179453442C>A , CM000664.1:g.179453442C>A GRCh37
NC_000002.10:g.179161688C>A NCBI36
NG_011618.3:g.247088G>T , LRG_391:g.247088G>T
NG_051363.1:g.70889C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.63010G>T (TTN) MANE Select NP_001254479.2:p.Glu21004Ter
ENST00000589042.5:c.63010G>T (TTN) MANE Select ENSP00000467141.1:p.Glu21004Ter
NM_001256850.1:c.58087G>T (TTN) NP_001243779.1:p.Glu19363Ter
NM_003319.4:c.35815G>T (TTN) NP_003310.4:p.Glu11939Ter
NM_133378.4:c.55306G>T (TTN) NP_596869.4:p.Glu18436Ter
NM_133432.3:c.36190G>T (TTN) NP_597676.3:p.Glu12064Ter
NM_133437.4:c.36391G>T (TTN) NP_597681.4:p.Glu12131Ter
NR_038271.1:n.597-8881C>A (TTN-AS1)
NR_038272.1:n.3189-2424C>A (TTN-AS1)
ENST00000342175.10:c.36391G>T (TTN) ENSP00000340554.6:p.Glu12131Ter
ENST00000342175.11:c.36391G>T (TTN) ENSP00000340554.6:p.Glu12131Ter
ENST00000342992.10:c.55306G>T (TTN) ENSP00000343764.6:p.Glu18436Ter
ENST00000342992.11:c.55306G>T (TTN) ENSP00000343764.6:p.Glu18436Ter
ENST00000359218.10:c.36190G>T (TTN) ENSP00000352154.5:p.Glu12064Ter
ENST00000359218.9:c.36190G>T (TTN) ENSP00000352154.5:p.Glu12064Ter
ENST00000460472.6:c.35815G>T (TTN) ENSP00000434586.1:p.Glu11939Ter
ENST00000591111.5:c.58087G>T (TTN) ENSP00000465570.1:p.Glu19363Ter
ENST00000615779.4:c.58087G>T (TTN) ENSP00000483597.1:p.Glu19363Ter
XM_011511729.1:c.62107G>T (TTN) XP_011510031.1:p.Glu20703Ter
XM_011511730.1:c.36001G>T (TTN) XP_011510032.1:p.Glu12001Ter
XM_011511731.1:c.35860G>T (TTN) XP_011510033.1:p.Glu11954Ter
XM_017004819.1:c.61903G>T (TTN) XP_016860308.1:p.Glu20635Ter
XM_017004820.1:c.57301G>T (TTN) XP_016860309.1:p.Glu19101Ter
XM_017004821.1:c.57298G>T (TTN) XP_016860310.1:p.Glu19100Ter
XM_017004822.1:c.54340G>T (TTN) XP_016860311.1:p.Glu18114Ter
XM_017004823.1:c.35956G>T (TTN) XP_016860312.1:p.Glu11986Ter
XM_024453094.1:c.57451G>T (TTN) XP_024308862.1:p.Glu19151Ter
XM_024453095.1:c.57448G>T (TTN) XP_024308863.1:p.Glu19150Ter
XM_024453096.1:c.56881G>T (TTN) XP_024308864.1:p.Glu18961Ter
XM_024453097.1:c.54223G>T (TTN) XP_024308865.1:p.Glu18075Ter
XM_024453098.1:c.54142G>T (TTN) XP_024308866.1:p.Glu18048Ter
XM_024453099.1:c.35905G>T (TTN) XP_024308867.1:p.Glu11969Ter
XM_024453100.1:c.25759G>T (TTN) XP_024308868.1:p.Glu8587Ter