Canonical Allele Identifier: CA349471501
Community Standard Title: NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546761C>T , CM000664.2:g.178546761C>T GRCh38
NC_000002.11:g.179411488C>T , CM000664.1:g.179411488C>T GRCh37
NC_000002.10:g.179119734C>T NCBI36
NG_011618.3:g.289042G>A , LRG_391:g.289042G>A
NG_051363.1:g.28935C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94667G>A (TTN) MANE Select NP_001254479.2:p.Trp31556Ter
ENST00000589042.5:c.94667G>A (TTN) MANE Select ENSP00000467141.1:p.Trp31556Ter
NM_001256850.1:c.89744G>A (TTN) NP_001243779.1:p.Trp29915Ter
NM_003319.4:c.67472G>A (TTN) NP_003310.4:p.Trp22491Ter
NM_133378.4:c.86963G>A (TTN) NP_596869.4:p.Trp28988Ter
NM_133432.3:c.67847G>A (TTN) NP_597676.3:p.Trp22616Ter
NM_133437.4:c.68048G>A (TTN) NP_597681.4:p.Trp22683Ter
NR_038271.1:n.446+23125C>T (TTN-AS1)
NR_038272.1:n.2043+4400C>T (TTN-AS1)
ENST00000342175.10:c.68048G>A (TTN) ENSP00000340554.6:p.Trp22683Ter
ENST00000342175.11:c.68048G>A (TTN) ENSP00000340554.6:p.Trp22683Ter
ENST00000342992.10:c.86963G>A (TTN) ENSP00000343764.6:p.Trp28988Ter
ENST00000342992.11:c.86963G>A (TTN) ENSP00000343764.6:p.Trp28988Ter
ENST00000359218.10:c.67847G>A (TTN) ENSP00000352154.5:p.Trp22616Ter
ENST00000359218.9:c.67847G>A (TTN) ENSP00000352154.5:p.Trp22616Ter
ENST00000460472.6:c.67472G>A (TTN) ENSP00000434586.1:p.Trp22491Ter
ENST00000591111.5:c.89744G>A (TTN) ENSP00000465570.1:p.Trp29915Ter
ENST00000615779.4:c.89744G>A (TTN) ENSP00000483597.1:p.Trp29915Ter
XM_011511729.1:c.93764G>A (TTN) XP_011510031.1:p.Trp31255Ter
XM_011511730.1:c.67658G>A (TTN) XP_011510032.1:p.Trp22553Ter
XM_011511731.1:c.67517G>A (TTN) XP_011510033.1:p.Trp22506Ter
XM_017004819.1:c.93560G>A (TTN) XP_016860308.1:p.Trp31187Ter
XM_017004820.1:c.88958G>A (TTN) XP_016860309.1:p.Trp29653Ter
XM_017004821.1:c.88955G>A (TTN) XP_016860310.1:p.Trp29652Ter
XM_017004822.1:c.85997G>A (TTN) XP_016860311.1:p.Trp28666Ter
XM_017004823.1:c.67613G>A (TTN) XP_016860312.1:p.Trp22538Ter
XM_024453094.1:c.89108G>A (TTN) XP_024308862.1:p.Trp29703Ter
XM_024453095.1:c.89105G>A (TTN) XP_024308863.1:p.Trp29702Ter
XM_024453096.1:c.88538G>A (TTN) XP_024308864.1:p.Trp29513Ter
XM_024453097.1:c.85880G>A (TTN) XP_024308865.1:p.Trp28627Ter
XM_024453098.1:c.85799G>A (TTN) XP_024308866.1:p.Trp28600Ter
XM_024453099.1:c.67562G>A (TTN) XP_024308867.1:p.Trp22521Ter
XM_024453100.1:c.57416G>A (TTN) XP_024308868.1:p.Trp19139Ter