Canonical Allele Identifier: CA349407147

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530567T>C , CM000664.2:g.178530567T>C GRCh38
NC_000002.11:g.179395294T>C , CM000664.1:g.179395294T>C GRCh37
NC_000002.10:g.179103540T>C NCBI36
NG_011618.3:g.305236A>G , LRG_391:g.305236A>G
NG_051363.1:g.12741T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98344A>G (TTN) ENSP00000343764.6:p.Thr32782Ala
ENST00000342175.11:c.79429A>G (TTN) ENSP00000340554.6:p.Thr26477Ala
ENST00000359218.10:c.79228A>G (TTN) ENSP00000352154.5:p.Thr26410Ala
ENST00000342175.10:c.79429A>G (TTN) ENSP00000340554.6:p.Thr26477Ala
ENST00000342992.10:c.98344A>G (TTN) ENSP00000343764.6:p.Thr32782Ala
ENST00000359218.9:c.79228A>G (TTN) ENSP00000352154.5:p.Thr26410Ala
ENST00000460472.6:c.78853A>G (TTN) ENSP00000434586.1:p.Thr26285Ala
ENST00000589042.5:c.106048A>G (TTN) MANE Select ENSP00000467141.1:p.Thr35350Ala
ENST00000591111.5:c.101125A>G (TTN) ENSP00000465570.1:p.Thr33709Ala
ENST00000615779.4:c.101125A>G (TTN) ENSP00000483597.1:p.Thr33709Ala
NM_001256850.1:c.101125A>G (TTN) NP_001243779.1:p.Thr33709Ala
NM_001267550.2:c.106048A>G (TTN) MANE Select NP_001254479.2:p.Thr35350Ala
NM_003319.4:c.78853A>G (TTN) NP_003310.4:p.Thr26285Ala
NM_133378.4:c.98344A>G (TTN) NP_596869.4:p.Thr32782Ala
NM_133432.3:c.79228A>G (TTN) NP_597676.3:p.Thr26410Ala
NM_133437.4:c.79429A>G (TTN) NP_597681.4:p.Thr26477Ala
NR_038271.1:n.446+6931T>C (TTN-AS1)
NR_038272.1:n.220-5165T>C (TTN-AS1)
XM_011511729.1:c.105145A>G (TTN) XP_011510031.1:p.Thr35049Ala
XM_011511730.1:c.79039A>G (TTN) XP_011510032.1:p.Thr26347Ala
XM_011511731.1:c.78898A>G (TTN) XP_011510033.1:p.Thr26300Ala
XM_017004819.1:c.104941A>G (TTN) XP_016860308.1:p.Thr34981Ala
XM_017004820.1:c.100339A>G (TTN) XP_016860309.1:p.Thr33447Ala
XM_017004821.1:c.100336A>G (TTN) XP_016860310.1:p.Thr33446Ala
XM_017004822.1:c.97378A>G (TTN) XP_016860311.1:p.Thr32460Ala
XM_017004823.1:c.78994A>G (TTN) XP_016860312.1:p.Thr26332Ala
XM_024453094.1:c.100489A>G (TTN) XP_024308862.1:p.Thr33497Ala
XM_024453095.1:c.100486A>G (TTN) XP_024308863.1:p.Thr33496Ala
XM_024453096.1:c.99919A>G (TTN) XP_024308864.1:p.Thr33307Ala
XM_024453097.1:c.97261A>G (TTN) XP_024308865.1:p.Thr32421Ala
XM_024453098.1:c.97180A>G (TTN) XP_024308866.1:p.Thr32394Ala
XM_024453099.1:c.78943A>G (TTN) XP_024308867.1:p.Thr26315Ala
XM_024453100.1:c.68797A>G (TTN) XP_024308868.1:p.Thr22933Ala