Canonical Allele Identifier: CA349411766

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532193C>A , CM000664.2:g.178532193C>A GRCh38
NC_000002.11:g.179396920C>A , CM000664.1:g.179396920C>A GRCh37
NC_000002.10:g.179105166C>A NCBI36
NG_011618.3:g.303610G>T , LRG_391:g.303610G>T
NG_051363.1:g.14367C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96718G>T (TTN) ENSP00000343764.6:p.Glu32240Ter
ENST00000342175.11:c.77803G>T (TTN) ENSP00000340554.6:p.Glu25935Ter
ENST00000359218.10:c.77602G>T (TTN) ENSP00000352154.5:p.Glu25868Ter
ENST00000342175.10:c.77803G>T (TTN) ENSP00000340554.6:p.Glu25935Ter
ENST00000342992.10:c.96718G>T (TTN) ENSP00000343764.6:p.Glu32240Ter
ENST00000359218.9:c.77602G>T (TTN) ENSP00000352154.5:p.Glu25868Ter
ENST00000460472.6:c.77227G>T (TTN) ENSP00000434586.1:p.Glu25743Ter
ENST00000589042.5:c.104422G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34808Ter
ENST00000591111.5:c.99499G>T (TTN) ENSP00000465570.1:p.Glu33167Ter
ENST00000615779.4:c.99499G>T (TTN) ENSP00000483597.1:p.Glu33167Ter
NM_001256850.1:c.99499G>T (TTN) NP_001243779.1:p.Glu33167Ter
NM_001267550.2:c.104422G>T (TTN) MANE Select NP_001254479.2:p.Glu34808Ter
NM_003319.4:c.77227G>T (TTN) NP_003310.4:p.Glu25743Ter
NM_133378.4:c.96718G>T (TTN) NP_596869.4:p.Glu32240Ter
NM_133432.3:c.77602G>T (TTN) NP_597676.3:p.Glu25868Ter
NM_133437.4:c.77803G>T (TTN) NP_597681.4:p.Glu25935Ter
NR_038271.1:n.446+8557C>A (TTN-AS1)
NR_038272.1:n.220-3539C>A (TTN-AS1)
XM_011511729.1:c.103519G>T (TTN) XP_011510031.1:p.Glu34507Ter
XM_011511730.1:c.77413G>T (TTN) XP_011510032.1:p.Glu25805Ter
XM_011511731.1:c.77272G>T (TTN) XP_011510033.1:p.Glu25758Ter
XM_017004819.1:c.103315G>T (TTN) XP_016860308.1:p.Glu34439Ter
XM_017004820.1:c.98713G>T (TTN) XP_016860309.1:p.Glu32905Ter
XM_017004821.1:c.98710G>T (TTN) XP_016860310.1:p.Glu32904Ter
XM_017004822.1:c.95752G>T (TTN) XP_016860311.1:p.Glu31918Ter
XM_017004823.1:c.77368G>T (TTN) XP_016860312.1:p.Glu25790Ter
XM_024453094.1:c.98863G>T (TTN) XP_024308862.1:p.Glu32955Ter
XM_024453095.1:c.98860G>T (TTN) XP_024308863.1:p.Glu32954Ter
XM_024453096.1:c.98293G>T (TTN) XP_024308864.1:p.Glu32765Ter
XM_024453097.1:c.95635G>T (TTN) XP_024308865.1:p.Glu31879Ter
XM_024453098.1:c.95554G>T (TTN) XP_024308866.1:p.Glu31852Ter
XM_024453099.1:c.77317G>T (TTN) XP_024308867.1:p.Glu25773Ter
XM_024453100.1:c.67171G>T (TTN) XP_024308868.1:p.Glu22391Ter