Canonical Allele Identifier: CA1310514762

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530568G= , CM000664.2:g.178530568G= GRCh38
NC_000002.11:g.179395295G= , CM000664.1:g.179395295G= GRCh37
NC_000002.10:g.179103541G= NCBI36
NG_011618.3:g.305235C= , LRG_391:g.305235C=
NG_051363.1:g.12742G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98343C= (TTN) ENSP00000343764.6:p.Leu32781=
ENST00000342175.11:c.79428C= (TTN) ENSP00000340554.6:p.Leu26476=
ENST00000359218.10:c.79227C= (TTN) ENSP00000352154.5:p.Leu26409=
ENST00000342175.10:c.79428C= (TTN) ENSP00000340554.6:p.Leu26476=
ENST00000342992.10:c.98343C= (TTN) ENSP00000343764.6:p.Leu32781=
ENST00000359218.9:c.79227C= (TTN) ENSP00000352154.5:p.Leu26409=
ENST00000460472.6:c.78852C= (TTN) ENSP00000434586.1:p.Leu26284=
ENST00000589042.5:c.106047C= (TTN) MANE Select ENSP00000467141.1:p.Leu35349=
ENST00000591111.5:c.101124C= (TTN) ENSP00000465570.1:p.Leu33708=
ENST00000615779.4:c.101124C= (TTN) ENSP00000483597.1:p.Leu33708=
NM_001256850.1:c.101124C= (TTN) NP_001243779.1:p.Leu33708=
NM_001267550.2:c.106047C= (TTN) MANE Select NP_001254479.2:p.Leu35349=
NM_003319.4:c.78852C= (TTN) NP_003310.4:p.Leu26284=
NM_133378.4:c.98343C= (TTN) NP_596869.4:p.Leu32781=
NM_133432.3:c.79227C= (TTN) NP_597676.3:p.Leu26409=
NM_133437.4:c.79428C= (TTN) NP_597681.4:p.Leu26476=
NR_038271.1:n.446+6932G= (TTN-AS1)
NR_038272.1:n.220-5164G= (TTN-AS1)
XM_011511729.1:c.105144C= (TTN) XP_011510031.1:p.Leu35048=
XM_011511730.1:c.79038C= (TTN) XP_011510032.1:p.Leu26346=
XM_011511731.1:c.78897C= (TTN) XP_011510033.1:p.Leu26299=
XM_017004819.1:c.104940C= (TTN) XP_016860308.1:p.Leu34980=
XM_017004820.1:c.100338C= (TTN) XP_016860309.1:p.Leu33446=
XM_017004821.1:c.100335C= (TTN) XP_016860310.1:p.Leu33445=
XM_017004822.1:c.97377C= (TTN) XP_016860311.1:p.Leu32459=
XM_017004823.1:c.78993C= (TTN) XP_016860312.1:p.Leu26331=
XM_024453094.1:c.100488C= (TTN) XP_024308862.1:p.Leu33496=
XM_024453095.1:c.100485C= (TTN) XP_024308863.1:p.Leu33495=
XM_024453096.1:c.99918C= (TTN) XP_024308864.1:p.Leu33306=
XM_024453097.1:c.97260C= (TTN) XP_024308865.1:p.Leu32420=
XM_024453098.1:c.97179C= (TTN) XP_024308866.1:p.Leu32393=
XM_024453099.1:c.78942C= (TTN) XP_024308867.1:p.Leu26314=
XM_024453100.1:c.68796C= (TTN) XP_024308868.1:p.Leu22932=