Canonical Allele Identifier: CA349455011

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544222T>A , CM000664.2:g.178544222T>A GRCh38
NC_000002.11:g.179408949T>A , CM000664.1:g.179408949T>A GRCh37
NC_000002.10:g.179117195T>A NCBI36
NG_011618.3:g.291581A>T , LRG_391:g.291581A>T
NG_051363.1:g.26396T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88303A>T (TTN) ENSP00000343764.6:p.Ile29435Phe
ENST00000342175.11:c.69388A>T (TTN) ENSP00000340554.6:p.Ile23130Phe
ENST00000359218.10:c.69187A>T (TTN) ENSP00000352154.5:p.Ile23063Phe
ENST00000342175.10:c.69388A>T (TTN) ENSP00000340554.6:p.Ile23130Phe
ENST00000342992.10:c.88303A>T (TTN) ENSP00000343764.6:p.Ile29435Phe
ENST00000359218.9:c.69187A>T (TTN) ENSP00000352154.5:p.Ile23063Phe
ENST00000460472.6:c.68812A>T (TTN) ENSP00000434586.1:p.Ile22938Phe
ENST00000589042.5:c.96007A>T (TTN) MANE Select ENSP00000467141.1:p.Ile32003Phe
ENST00000591111.5:c.91084A>T (TTN) ENSP00000465570.1:p.Ile30362Phe
ENST00000615779.4:c.91084A>T (TTN) ENSP00000483597.1:p.Ile30362Phe
NM_001256850.1:c.91084A>T (TTN) NP_001243779.1:p.Ile30362Phe
NM_001267550.2:c.96007A>T (TTN) MANE Select NP_001254479.2:p.Ile32003Phe
NM_003319.4:c.68812A>T (TTN) NP_003310.4:p.Ile22938Phe
NM_133378.4:c.88303A>T (TTN) NP_596869.4:p.Ile29435Phe
NM_133432.3:c.69187A>T (TTN) NP_597676.3:p.Ile23063Phe
NM_133437.4:c.69388A>T (TTN) NP_597681.4:p.Ile23130Phe
NR_038271.1:n.446+20586T>A (TTN-AS1)
NR_038272.1:n.2043+1861T>A (TTN-AS1)
XM_011511729.1:c.95104A>T (TTN) XP_011510031.1:p.Ile31702Phe
XM_011511730.1:c.68998A>T (TTN) XP_011510032.1:p.Ile23000Phe
XM_011511731.1:c.68857A>T (TTN) XP_011510033.1:p.Ile22953Phe
XM_017004819.1:c.94900A>T (TTN) XP_016860308.1:p.Ile31634Phe
XM_017004820.1:c.90298A>T (TTN) XP_016860309.1:p.Ile30100Phe
XM_017004821.1:c.90295A>T (TTN) XP_016860310.1:p.Ile30099Phe
XM_017004822.1:c.87337A>T (TTN) XP_016860311.1:p.Ile29113Phe
XM_017004823.1:c.68953A>T (TTN) XP_016860312.1:p.Ile22985Phe
XM_024453094.1:c.90448A>T (TTN) XP_024308862.1:p.Ile30150Phe
XM_024453095.1:c.90445A>T (TTN) XP_024308863.1:p.Ile30149Phe
XM_024453096.1:c.89878A>T (TTN) XP_024308864.1:p.Ile29960Phe
XM_024453097.1:c.87220A>T (TTN) XP_024308865.1:p.Ile29074Phe
XM_024453098.1:c.87139A>T (TTN) XP_024308866.1:p.Ile29047Phe
XM_024453099.1:c.68902A>T (TTN) XP_024308867.1:p.Ile22968Phe
XM_024453100.1:c.58756A>T (TTN) XP_024308868.1:p.Ile19586Phe