Canonical Allele Identifier: CA349405632

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530113T>G , CM000664.2:g.178530113T>G GRCh38
NC_000002.11:g.179394840T>G , CM000664.1:g.179394840T>G GRCh37
NC_000002.10:g.179103086T>G NCBI36
NG_011618.3:g.305690A>C , LRG_391:g.305690A>C
NG_051363.1:g.12287T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98674A>C (TTN) ENSP00000343764.6:p.Ile32892Leu
ENST00000342175.11:c.79759A>C (TTN) ENSP00000340554.6:p.Ile26587Leu
ENST00000359218.10:c.79558A>C (TTN) ENSP00000352154.5:p.Ile26520Leu
ENST00000342175.10:c.79759A>C (TTN) ENSP00000340554.6:p.Ile26587Leu
ENST00000342992.10:c.98674A>C (TTN) ENSP00000343764.6:p.Ile32892Leu
ENST00000359218.9:c.79558A>C (TTN) ENSP00000352154.5:p.Ile26520Leu
ENST00000460472.6:c.79183A>C (TTN) ENSP00000434586.1:p.Ile26395Leu
ENST00000589042.5:c.106378A>C (TTN) MANE Select ENSP00000467141.1:p.Ile35460Leu
ENST00000591111.5:c.101455A>C (TTN) ENSP00000465570.1:p.Ile33819Leu
ENST00000615779.4:c.101455A>C (TTN) ENSP00000483597.1:p.Ile33819Leu
NM_001256850.1:c.101455A>C (TTN) NP_001243779.1:p.Ile33819Leu
NM_001267550.2:c.106378A>C (TTN) MANE Select NP_001254479.2:p.Ile35460Leu
NM_003319.4:c.79183A>C (TTN) NP_003310.4:p.Ile26395Leu
NM_133378.4:c.98674A>C (TTN) NP_596869.4:p.Ile32892Leu
NM_133432.3:c.79558A>C (TTN) NP_597676.3:p.Ile26520Leu
NM_133437.4:c.79759A>C (TTN) NP_597681.4:p.Ile26587Leu
NR_038271.1:n.446+6477T>G (TTN-AS1)
NR_038272.1:n.220-5619T>G (TTN-AS1)
XM_011511729.1:c.105475A>C (TTN) XP_011510031.1:p.Ile35159Leu
XM_011511730.1:c.79369A>C (TTN) XP_011510032.1:p.Ile26457Leu
XM_011511731.1:c.79228A>C (TTN) XP_011510033.1:p.Ile26410Leu
XM_017004819.1:c.105271A>C (TTN) XP_016860308.1:p.Ile35091Leu
XM_017004820.1:c.100669A>C (TTN) XP_016860309.1:p.Ile33557Leu
XM_017004821.1:c.100666A>C (TTN) XP_016860310.1:p.Ile33556Leu
XM_017004822.1:c.97708A>C (TTN) XP_016860311.1:p.Ile32570Leu
XM_017004823.1:c.79324A>C (TTN) XP_016860312.1:p.Ile26442Leu
XM_024453094.1:c.100819A>C (TTN) XP_024308862.1:p.Ile33607Leu
XM_024453095.1:c.100816A>C (TTN) XP_024308863.1:p.Ile33606Leu
XM_024453096.1:c.100249A>C (TTN) XP_024308864.1:p.Ile33417Leu
XM_024453097.1:c.97591A>C (TTN) XP_024308865.1:p.Ile32531Leu
XM_024453098.1:c.97510A>C (TTN) XP_024308866.1:p.Ile32504Leu
XM_024453099.1:c.79273A>C (TTN) XP_024308867.1:p.Ile26425Leu
XM_024453100.1:c.69127A>C (TTN) XP_024308868.1:p.Ile23043Leu