Canonical Allele Identifier: CA349407313

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530641T>A , CM000664.2:g.178530641T>A GRCh38
NC_000002.11:g.179395368T>A , CM000664.1:g.179395368T>A GRCh37
NC_000002.10:g.179103614T>A NCBI36
NG_011618.3:g.305162A>T , LRG_391:g.305162A>T
NG_051363.1:g.12815T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98270A>T (TTN) ENSP00000343764.6:p.Lys32757Ile
ENST00000342175.11:c.79355A>T (TTN) ENSP00000340554.6:p.Lys26452Ile
ENST00000359218.10:c.79154A>T (TTN) ENSP00000352154.5:p.Lys26385Ile
ENST00000342175.10:c.79355A>T (TTN) ENSP00000340554.6:p.Lys26452Ile
ENST00000342992.10:c.98270A>T (TTN) ENSP00000343764.6:p.Lys32757Ile
ENST00000359218.9:c.79154A>T (TTN) ENSP00000352154.5:p.Lys26385Ile
ENST00000460472.6:c.78779A>T (TTN) ENSP00000434586.1:p.Lys26260Ile
ENST00000589042.5:c.105974A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35325Ile
ENST00000591111.5:c.101051A>T (TTN) ENSP00000465570.1:p.Lys33684Ile
ENST00000615779.4:c.101051A>T (TTN) ENSP00000483597.1:p.Lys33684Ile
NM_001256850.1:c.101051A>T (TTN) NP_001243779.1:p.Lys33684Ile
NM_001267550.2:c.105974A>T (TTN) MANE Select NP_001254479.2:p.Lys35325Ile
NM_003319.4:c.78779A>T (TTN) NP_003310.4:p.Lys26260Ile
NM_133378.4:c.98270A>T (TTN) NP_596869.4:p.Lys32757Ile
NM_133432.3:c.79154A>T (TTN) NP_597676.3:p.Lys26385Ile
NM_133437.4:c.79355A>T (TTN) NP_597681.4:p.Lys26452Ile
NR_038271.1:n.446+7005T>A (TTN-AS1)
NR_038272.1:n.220-5091T>A (TTN-AS1)
XM_011511729.1:c.105071A>T (TTN) XP_011510031.1:p.Lys35024Ile
XM_011511730.1:c.78965A>T (TTN) XP_011510032.1:p.Lys26322Ile
XM_011511731.1:c.78824A>T (TTN) XP_011510033.1:p.Lys26275Ile
XM_017004819.1:c.104867A>T (TTN) XP_016860308.1:p.Lys34956Ile
XM_017004820.1:c.100265A>T (TTN) XP_016860309.1:p.Lys33422Ile
XM_017004821.1:c.100262A>T (TTN) XP_016860310.1:p.Lys33421Ile
XM_017004822.1:c.97304A>T (TTN) XP_016860311.1:p.Lys32435Ile
XM_017004823.1:c.78920A>T (TTN) XP_016860312.1:p.Lys26307Ile
XM_024453094.1:c.100415A>T (TTN) XP_024308862.1:p.Lys33472Ile
XM_024453095.1:c.100412A>T (TTN) XP_024308863.1:p.Lys33471Ile
XM_024453096.1:c.99845A>T (TTN) XP_024308864.1:p.Lys33282Ile
XM_024453097.1:c.97187A>T (TTN) XP_024308865.1:p.Lys32396Ile
XM_024453098.1:c.97106A>T (TTN) XP_024308866.1:p.Lys32369Ile
XM_024453099.1:c.78869A>T (TTN) XP_024308867.1:p.Lys26290Ile
XM_024453100.1:c.68723A>T (TTN) XP_024308868.1:p.Lys22908Ile