Canonical Allele Identifier: CA349618828

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618222T>C , CM000664.2:g.178618222T>C GRCh38
NC_000002.11:g.179482949T>C , CM000664.1:g.179482949T>C GRCh37
NC_000002.10:g.179191194T>C NCBI36
NG_011618.3:g.217581A>G , LRG_391:g.217581A>G
NG_051363.1:g.100396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39532A>G (TTN) ENSP00000343764.6:p.Thr13178Ala
ENST00000342175.11:c.20617A>G (TTN) ENSP00000340554.6:p.Thr6873Ala
ENST00000359218.10:c.20416A>G (TTN) ENSP00000352154.5:p.Thr6806Ala
ENST00000342175.10:c.20617A>G (TTN) ENSP00000340554.6:p.Thr6873Ala
ENST00000342992.10:c.39532A>G (TTN) ENSP00000343764.6:p.Thr13178Ala
ENST00000359218.9:c.20416A>G (TTN) ENSP00000352154.5:p.Thr6806Ala
ENST00000460472.6:c.20041A>G (TTN) ENSP00000434586.1:p.Thr6681Ala
ENST00000589042.5:c.47236A>G (TTN) MANE Select ENSP00000467141.1:p.Thr15746Ala
ENST00000591111.5:c.42313A>G (TTN) ENSP00000465570.1:p.Thr14105Ala
ENST00000615779.4:c.42313A>G (TTN) ENSP00000483597.1:p.Thr14105Ala
NM_001256850.1:c.42313A>G (TTN) NP_001243779.1:p.Thr14105Ala
NM_001267550.2:c.47236A>G (TTN) MANE Select NP_001254479.2:p.Thr15746Ala
NM_003319.4:c.20041A>G (TTN) NP_003310.4:p.Thr6681Ala
NM_133378.4:c.39532A>G (TTN) NP_596869.4:p.Thr13178Ala
NM_133432.3:c.20416A>G (TTN) NP_597676.3:p.Thr6806Ala
NM_133437.4:c.20617A>G (TTN) NP_597681.4:p.Thr6873Ala
NR_038271.1:n.1605-1531T>C (TTN-AS1)
XM_011511729.1:c.46333A>G (TTN) XP_011510031.1:p.Thr15445Ala
XM_011511730.1:c.20227A>G (TTN) XP_011510032.1:p.Thr6743Ala
XM_011511731.1:c.20086A>G (TTN) XP_011510033.1:p.Thr6696Ala
XM_017004819.1:c.46129A>G (TTN) XP_016860308.1:p.Thr15377Ala
XM_017004820.1:c.41527A>G (TTN) XP_016860309.1:p.Thr13843Ala
XM_017004821.1:c.41524A>G (TTN) XP_016860310.1:p.Thr13842Ala
XM_017004822.1:c.38566A>G (TTN) XP_016860311.1:p.Thr12856Ala
XM_017004823.1:c.20182A>G (TTN) XP_016860312.1:p.Thr6728Ala
XM_024453094.1:c.41677A>G (TTN) XP_024308862.1:p.Thr13893Ala
XM_024453095.1:c.41674A>G (TTN) XP_024308863.1:p.Thr13892Ala
XM_024453096.1:c.41107A>G (TTN) XP_024308864.1:p.Thr13703Ala
XM_024453097.1:c.38449A>G (TTN) XP_024308865.1:p.Thr12817Ala
XM_024453098.1:c.38368A>G (TTN) XP_024308866.1:p.Thr12790Ala
XM_024453099.1:c.20131A>G (TTN) XP_024308867.1:p.Thr6711Ala
XM_024453100.1:c.9985A>G (TTN) XP_024308868.1:p.Thr3329Ala