Canonical Allele Identifier: CA349618148

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618051A>G , CM000664.2:g.178618051A>G GRCh38
NC_000002.11:g.179482778A>G , CM000664.1:g.179482778A>G GRCh37
NC_000002.10:g.179191023A>G NCBI36
NG_011618.3:g.217752T>C , LRG_391:g.217752T>C
NG_051363.1:g.100225A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39596T>C (TTN) ENSP00000343764.6:p.Ile13199Thr
ENST00000342175.11:c.20681T>C (TTN) ENSP00000340554.6:p.Ile6894Thr
ENST00000359218.10:c.20480T>C (TTN) ENSP00000352154.5:p.Ile6827Thr
ENST00000342175.10:c.20681T>C (TTN) ENSP00000340554.6:p.Ile6894Thr
ENST00000342992.10:c.39596T>C (TTN) ENSP00000343764.6:p.Ile13199Thr
ENST00000359218.9:c.20480T>C (TTN) ENSP00000352154.5:p.Ile6827Thr
ENST00000460472.6:c.20105T>C (TTN) ENSP00000434586.1:p.Ile6702Thr
ENST00000589042.5:c.47300T>C (TTN) MANE Select ENSP00000467141.1:p.Ile15767Thr
ENST00000591111.5:c.42377T>C (TTN) ENSP00000465570.1:p.Ile14126Thr
ENST00000615779.4:c.42377T>C (TTN) ENSP00000483597.1:p.Ile14126Thr
NM_001256850.1:c.42377T>C (TTN) NP_001243779.1:p.Ile14126Thr
NM_001267550.2:c.47300T>C (TTN) MANE Select NP_001254479.2:p.Ile15767Thr
NM_003319.4:c.20105T>C (TTN) NP_003310.4:p.Ile6702Thr
NM_133378.4:c.39596T>C (TTN) NP_596869.4:p.Ile13199Thr
NM_133432.3:c.20480T>C (TTN) NP_597676.3:p.Ile6827Thr
NM_133437.4:c.20681T>C (TTN) NP_597681.4:p.Ile6894Thr
NR_038271.1:n.1605-1702A>G (TTN-AS1)
XM_011511729.1:c.46397T>C (TTN) XP_011510031.1:p.Ile15466Thr
XM_011511730.1:c.20291T>C (TTN) XP_011510032.1:p.Ile6764Thr
XM_011511731.1:c.20150T>C (TTN) XP_011510033.1:p.Ile6717Thr
XM_017004819.1:c.46193T>C (TTN) XP_016860308.1:p.Ile15398Thr
XM_017004820.1:c.41591T>C (TTN) XP_016860309.1:p.Ile13864Thr
XM_017004821.1:c.41588T>C (TTN) XP_016860310.1:p.Ile13863Thr
XM_017004822.1:c.38630T>C (TTN) XP_016860311.1:p.Ile12877Thr
XM_017004823.1:c.20246T>C (TTN) XP_016860312.1:p.Ile6749Thr
XM_024453094.1:c.41741T>C (TTN) XP_024308862.1:p.Ile13914Thr
XM_024453095.1:c.41738T>C (TTN) XP_024308863.1:p.Ile13913Thr
XM_024453096.1:c.41171T>C (TTN) XP_024308864.1:p.Ile13724Thr
XM_024453097.1:c.38513T>C (TTN) XP_024308865.1:p.Ile12838Thr
XM_024453098.1:c.38432T>C (TTN) XP_024308866.1:p.Ile12811Thr
XM_024453099.1:c.20195T>C (TTN) XP_024308867.1:p.Ile6732Thr
XM_024453100.1:c.10049T>C (TTN) XP_024308868.1:p.Ile3350Thr