Canonical Allele Identifier: CA349471488

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546760C>G , CM000664.2:g.178546760C>G GRCh38
NC_000002.11:g.179411487C>G , CM000664.1:g.179411487C>G GRCh37
NC_000002.10:g.179119733C>G NCBI36
NG_011618.3:g.289043G>C , LRG_391:g.289043G>C
NG_051363.1:g.28934C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86964G>C (TTN) ENSP00000343764.6:p.Trp28988Cys
ENST00000342175.11:c.68049G>C (TTN) ENSP00000340554.6:p.Trp22683Cys
ENST00000359218.10:c.67848G>C (TTN) ENSP00000352154.5:p.Trp22616Cys
ENST00000342175.10:c.68049G>C (TTN) ENSP00000340554.6:p.Trp22683Cys
ENST00000342992.10:c.86964G>C (TTN) ENSP00000343764.6:p.Trp28988Cys
ENST00000359218.9:c.67848G>C (TTN) ENSP00000352154.5:p.Trp22616Cys
ENST00000460472.6:c.67473G>C (TTN) ENSP00000434586.1:p.Trp22491Cys
ENST00000589042.5:c.94668G>C (TTN) MANE Select ENSP00000467141.1:p.Trp31556Cys
ENST00000591111.5:c.89745G>C (TTN) ENSP00000465570.1:p.Trp29915Cys
ENST00000615779.4:c.89745G>C (TTN) ENSP00000483597.1:p.Trp29915Cys
NM_001256850.1:c.89745G>C (TTN) NP_001243779.1:p.Trp29915Cys
NM_001267550.2:c.94668G>C (TTN) MANE Select NP_001254479.2:p.Trp31556Cys
NM_003319.4:c.67473G>C (TTN) NP_003310.4:p.Trp22491Cys
NM_133378.4:c.86964G>C (TTN) NP_596869.4:p.Trp28988Cys
NM_133432.3:c.67848G>C (TTN) NP_597676.3:p.Trp22616Cys
NM_133437.4:c.68049G>C (TTN) NP_597681.4:p.Trp22683Cys
NR_038271.1:n.446+23124C>G (TTN-AS1)
NR_038272.1:n.2043+4399C>G (TTN-AS1)
XM_011511729.1:c.93765G>C (TTN) XP_011510031.1:p.Trp31255Cys
XM_011511730.1:c.67659G>C (TTN) XP_011510032.1:p.Trp22553Cys
XM_011511731.1:c.67518G>C (TTN) XP_011510033.1:p.Trp22506Cys
XM_017004819.1:c.93561G>C (TTN) XP_016860308.1:p.Trp31187Cys
XM_017004820.1:c.88959G>C (TTN) XP_016860309.1:p.Trp29653Cys
XM_017004821.1:c.88956G>C (TTN) XP_016860310.1:p.Trp29652Cys
XM_017004822.1:c.85998G>C (TTN) XP_016860311.1:p.Trp28666Cys
XM_017004823.1:c.67614G>C (TTN) XP_016860312.1:p.Trp22538Cys
XM_024453094.1:c.89109G>C (TTN) XP_024308862.1:p.Trp29703Cys
XM_024453095.1:c.89106G>C (TTN) XP_024308863.1:p.Trp29702Cys
XM_024453096.1:c.88539G>C (TTN) XP_024308864.1:p.Trp29513Cys
XM_024453097.1:c.85881G>C (TTN) XP_024308865.1:p.Trp28627Cys
XM_024453098.1:c.85800G>C (TTN) XP_024308866.1:p.Trp28600Cys
XM_024453099.1:c.67563G>C (TTN) XP_024308867.1:p.Trp22521Cys
XM_024453100.1:c.57417G>C (TTN) XP_024308868.1:p.Trp19139Cys