Canonical Allele Identifier: CA349407800

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530839G>A , CM000664.2:g.178530839G>A GRCh38
NC_000002.11:g.179395566G>A , CM000664.1:g.179395566G>A GRCh37
NC_000002.10:g.179103812G>A NCBI36
NG_011618.3:g.304964C>T , LRG_391:g.304964C>T
NG_051363.1:g.13013G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105776C>T (TTN) MANE Select NP_001254479.2:p.Ser35259Phe
ENST00000589042.5:c.105776C>T (TTN) MANE Select ENSP00000467141.1:p.Ser35259Phe
NM_001256850.1:c.100853C>T (TTN) NP_001243779.1:p.Ser33618Phe
NM_003319.4:c.78581C>T (TTN) NP_003310.4:p.Ser26194Phe
NM_133378.4:c.98072C>T (TTN) NP_596869.4:p.Ser32691Phe
NM_133432.3:c.78956C>T (TTN) NP_597676.3:p.Ser26319Phe
NM_133437.4:c.79157C>T (TTN) NP_597681.4:p.Ser26386Phe
NR_038271.1:n.446+7203G>A (TTN-AS1)
NR_038272.1:n.220-4893G>A (TTN-AS1)
ENST00000342175.10:c.79157C>T (TTN) ENSP00000340554.6:p.Ser26386Phe
ENST00000342175.11:c.79157C>T (TTN) ENSP00000340554.6:p.Ser26386Phe
ENST00000342992.10:c.98072C>T (TTN) ENSP00000343764.6:p.Ser32691Phe
ENST00000342992.11:c.98072C>T (TTN) ENSP00000343764.6:p.Ser32691Phe
ENST00000359218.10:c.78956C>T (TTN) ENSP00000352154.5:p.Ser26319Phe
ENST00000359218.9:c.78956C>T (TTN) ENSP00000352154.5:p.Ser26319Phe
ENST00000460472.6:c.78581C>T (TTN) ENSP00000434586.1:p.Ser26194Phe
ENST00000591111.5:c.100853C>T (TTN) ENSP00000465570.1:p.Ser33618Phe
ENST00000615779.4:c.100853C>T (TTN) ENSP00000483597.1:p.Ser33618Phe
XM_011511729.1:c.104873C>T (TTN) XP_011510031.1:p.Ser34958Phe
XM_011511730.1:c.78767C>T (TTN) XP_011510032.1:p.Ser26256Phe
XM_011511731.1:c.78626C>T (TTN) XP_011510033.1:p.Ser26209Phe
XM_017004819.1:c.104669C>T (TTN) XP_016860308.1:p.Ser34890Phe
XM_017004820.1:c.100067C>T (TTN) XP_016860309.1:p.Ser33356Phe
XM_017004821.1:c.100064C>T (TTN) XP_016860310.1:p.Ser33355Phe
XM_017004822.1:c.97106C>T (TTN) XP_016860311.1:p.Ser32369Phe
XM_017004823.1:c.78722C>T (TTN) XP_016860312.1:p.Ser26241Phe
XM_024453094.1:c.100217C>T (TTN) XP_024308862.1:p.Ser33406Phe
XM_024453095.1:c.100214C>T (TTN) XP_024308863.1:p.Ser33405Phe
XM_024453096.1:c.99647C>T (TTN) XP_024308864.1:p.Ser33216Phe
XM_024453097.1:c.96989C>T (TTN) XP_024308865.1:p.Ser32330Phe
XM_024453098.1:c.96908C>T (TTN) XP_024308866.1:p.Ser32303Phe
XM_024453099.1:c.78671C>T (TTN) XP_024308867.1:p.Ser26224Phe
XM_024453100.1:c.68525C>T (TTN) XP_024308868.1:p.Ser22842Phe