Canonical Allele Identifier: CA349407209

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530597C>A , CM000664.2:g.178530597C>A GRCh38
NC_000002.11:g.179395324C>A , CM000664.1:g.179395324C>A GRCh37
NC_000002.10:g.179103570C>A NCBI36
NG_011618.3:g.305206G>T , LRG_391:g.305206G>T
NG_051363.1:g.12771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98314G>T (TTN) ENSP00000343764.6:p.Gly32772Cys
ENST00000342175.11:c.79399G>T (TTN) ENSP00000340554.6:p.Gly26467Cys
ENST00000359218.10:c.79198G>T (TTN) ENSP00000352154.5:p.Gly26400Cys
ENST00000342175.10:c.79399G>T (TTN) ENSP00000340554.6:p.Gly26467Cys
ENST00000342992.10:c.98314G>T (TTN) ENSP00000343764.6:p.Gly32772Cys
ENST00000359218.9:c.79198G>T (TTN) ENSP00000352154.5:p.Gly26400Cys
ENST00000460472.6:c.78823G>T (TTN) ENSP00000434586.1:p.Gly26275Cys
ENST00000589042.5:c.106018G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35340Cys
ENST00000591111.5:c.101095G>T (TTN) ENSP00000465570.1:p.Gly33699Cys
ENST00000615779.4:c.101095G>T (TTN) ENSP00000483597.1:p.Gly33699Cys
NM_001256850.1:c.101095G>T (TTN) NP_001243779.1:p.Gly33699Cys
NM_001267550.2:c.106018G>T (TTN) MANE Select NP_001254479.2:p.Gly35340Cys
NM_003319.4:c.78823G>T (TTN) NP_003310.4:p.Gly26275Cys
NM_133378.4:c.98314G>T (TTN) NP_596869.4:p.Gly32772Cys
NM_133432.3:c.79198G>T (TTN) NP_597676.3:p.Gly26400Cys
NM_133437.4:c.79399G>T (TTN) NP_597681.4:p.Gly26467Cys
NR_038271.1:n.446+6961C>A (TTN-AS1)
NR_038272.1:n.220-5135C>A (TTN-AS1)
XM_011511729.1:c.105115G>T (TTN) XP_011510031.1:p.Gly35039Cys
XM_011511730.1:c.79009G>T (TTN) XP_011510032.1:p.Gly26337Cys
XM_011511731.1:c.78868G>T (TTN) XP_011510033.1:p.Gly26290Cys
XM_017004819.1:c.104911G>T (TTN) XP_016860308.1:p.Gly34971Cys
XM_017004820.1:c.100309G>T (TTN) XP_016860309.1:p.Gly33437Cys
XM_017004821.1:c.100306G>T (TTN) XP_016860310.1:p.Gly33436Cys
XM_017004822.1:c.97348G>T (TTN) XP_016860311.1:p.Gly32450Cys
XM_017004823.1:c.78964G>T (TTN) XP_016860312.1:p.Gly26322Cys
XM_024453094.1:c.100459G>T (TTN) XP_024308862.1:p.Gly33487Cys
XM_024453095.1:c.100456G>T (TTN) XP_024308863.1:p.Gly33486Cys
XM_024453096.1:c.99889G>T (TTN) XP_024308864.1:p.Gly33297Cys
XM_024453097.1:c.97231G>T (TTN) XP_024308865.1:p.Gly32411Cys
XM_024453098.1:c.97150G>T (TTN) XP_024308866.1:p.Gly32384Cys
XM_024453099.1:c.78913G>T (TTN) XP_024308867.1:p.Gly26305Cys
XM_024453100.1:c.68767G>T (TTN) XP_024308868.1:p.Gly22923Cys