Canonical Allele Identifier: CA1310549490

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614734G= , CM000664.2:g.178614734G= GRCh38
NC_000002.11:g.179479461G= , CM000664.1:g.179479461G= GRCh37
NC_000002.10:g.179187706G= NCBI36
NG_011618.3:g.221069C= , LRG_391:g.221069C=
NG_051363.1:g.96908G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41076C= (TTN) ENSP00000343764.6:p.Leu13692=
ENST00000342175.11:c.22161C= (TTN) ENSP00000340554.6:p.Leu7387=
ENST00000359218.10:c.21960C= (TTN) ENSP00000352154.5:p.Leu7320=
ENST00000342175.10:c.22161C= (TTN) ENSP00000340554.6:p.Leu7387=
ENST00000342992.10:c.41076C= (TTN) ENSP00000343764.6:p.Leu13692=
ENST00000359218.9:c.21960C= (TTN) ENSP00000352154.5:p.Leu7320=
ENST00000460472.6:c.21585C= (TTN) ENSP00000434586.1:p.Leu7195=
ENST00000589042.5:c.48780C= (TTN) MANE Select ENSP00000467141.1:p.Leu16260=
ENST00000591111.5:c.43857C= (TTN) ENSP00000465570.1:p.Leu14619=
ENST00000615779.4:c.43857C= (TTN) ENSP00000483597.1:p.Leu14619=
NM_001256850.1:c.43857C= (TTN) NP_001243779.1:p.Leu14619=
NM_001267550.2:c.48780C= (TTN) MANE Select NP_001254479.2:p.Leu16260=
NM_003319.4:c.21585C= (TTN) NP_003310.4:p.Leu7195=
NM_133378.4:c.41076C= (TTN) NP_596869.4:p.Leu13692=
NM_133432.3:c.21960C= (TTN) NP_597676.3:p.Leu7320=
NM_133437.4:c.22161C= (TTN) NP_597681.4:p.Leu7387=
NR_038271.1:n.1482G= (TTN-AS1)
XM_011511729.1:c.47877C= (TTN) XP_011510031.1:p.Leu15959=
XM_011511730.1:c.21771C= (TTN) XP_011510032.1:p.Leu7257=
XM_011511731.1:c.21630C= (TTN) XP_011510033.1:p.Leu7210=
XM_017004819.1:c.47673C= (TTN) XP_016860308.1:p.Leu15891=
XM_017004820.1:c.43071C= (TTN) XP_016860309.1:p.Leu14357=
XM_017004821.1:c.43068C= (TTN) XP_016860310.1:p.Leu14356=
XM_017004822.1:c.40110C= (TTN) XP_016860311.1:p.Leu13370=
XM_017004823.1:c.21726C= (TTN) XP_016860312.1:p.Leu7242=
XM_024453094.1:c.43221C= (TTN) XP_024308862.1:p.Leu14407=
XM_024453095.1:c.43218C= (TTN) XP_024308863.1:p.Leu14406=
XM_024453096.1:c.42651C= (TTN) XP_024308864.1:p.Leu14217=
XM_024453097.1:c.39993C= (TTN) XP_024308865.1:p.Leu13331=
XM_024453098.1:c.39912C= (TTN) XP_024308866.1:p.Leu13304=
XM_024453099.1:c.21675C= (TTN) XP_024308867.1:p.Leu7225=
XM_024453100.1:c.11529C= (TTN) XP_024308868.1:p.Leu3843=