Canonical Allele Identifier: CA349407113

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530551C>A , CM000664.2:g.178530551C>A GRCh38
NC_000002.11:g.179395278C>A , CM000664.1:g.179395278C>A GRCh37
NC_000002.10:g.179103524C>A NCBI36
NG_011618.3:g.305252G>T , LRG_391:g.305252G>T
NG_051363.1:g.12725C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98360G>T (TTN) ENSP00000343764.6:p.Gly32787Val
ENST00000342175.11:c.79445G>T (TTN) ENSP00000340554.6:p.Gly26482Val
ENST00000359218.10:c.79244G>T (TTN) ENSP00000352154.5:p.Gly26415Val
ENST00000342175.10:c.79445G>T (TTN) ENSP00000340554.6:p.Gly26482Val
ENST00000342992.10:c.98360G>T (TTN) ENSP00000343764.6:p.Gly32787Val
ENST00000359218.9:c.79244G>T (TTN) ENSP00000352154.5:p.Gly26415Val
ENST00000460472.6:c.78869G>T (TTN) ENSP00000434586.1:p.Gly26290Val
ENST00000589042.5:c.106064G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35355Val
ENST00000591111.5:c.101141G>T (TTN) ENSP00000465570.1:p.Gly33714Val
ENST00000615779.4:c.101141G>T (TTN) ENSP00000483597.1:p.Gly33714Val
NM_001256850.1:c.101141G>T (TTN) NP_001243779.1:p.Gly33714Val
NM_001267550.2:c.106064G>T (TTN) MANE Select NP_001254479.2:p.Gly35355Val
NM_003319.4:c.78869G>T (TTN) NP_003310.4:p.Gly26290Val
NM_133378.4:c.98360G>T (TTN) NP_596869.4:p.Gly32787Val
NM_133432.3:c.79244G>T (TTN) NP_597676.3:p.Gly26415Val
NM_133437.4:c.79445G>T (TTN) NP_597681.4:p.Gly26482Val
NR_038271.1:n.446+6915C>A (TTN-AS1)
NR_038272.1:n.220-5181C>A (TTN-AS1)
XM_011511729.1:c.105161G>T (TTN) XP_011510031.1:p.Gly35054Val
XM_011511730.1:c.79055G>T (TTN) XP_011510032.1:p.Gly26352Val
XM_011511731.1:c.78914G>T (TTN) XP_011510033.1:p.Gly26305Val
XM_017004819.1:c.104957G>T (TTN) XP_016860308.1:p.Gly34986Val
XM_017004820.1:c.100355G>T (TTN) XP_016860309.1:p.Gly33452Val
XM_017004821.1:c.100352G>T (TTN) XP_016860310.1:p.Gly33451Val
XM_017004822.1:c.97394G>T (TTN) XP_016860311.1:p.Gly32465Val
XM_017004823.1:c.79010G>T (TTN) XP_016860312.1:p.Gly26337Val
XM_024453094.1:c.100505G>T (TTN) XP_024308862.1:p.Gly33502Val
XM_024453095.1:c.100502G>T (TTN) XP_024308863.1:p.Gly33501Val
XM_024453096.1:c.99935G>T (TTN) XP_024308864.1:p.Gly33312Val
XM_024453097.1:c.97277G>T (TTN) XP_024308865.1:p.Gly32426Val
XM_024453098.1:c.97196G>T (TTN) XP_024308866.1:p.Gly32399Val
XM_024453099.1:c.78959G>T (TTN) XP_024308867.1:p.Gly26320Val
XM_024453100.1:c.68813G>T (TTN) XP_024308868.1:p.Gly22938Val