Canonical Allele Identifier: CA349479837

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547733G>C , CM000664.2:g.178547733G>C GRCh38
NC_000002.11:g.179412460G>C , CM000664.1:g.179412460G>C GRCh37
NC_000002.10:g.179120706G>C NCBI36
NG_011618.3:g.288070C>G , LRG_391:g.288070C>G
NG_051363.1:g.29907G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86189C>G (TTN) ENSP00000343764.6:p.Thr28730Arg
ENST00000342175.11:c.67274C>G (TTN) ENSP00000340554.6:p.Thr22425Arg
ENST00000359218.10:c.67073C>G (TTN) ENSP00000352154.5:p.Thr22358Arg
ENST00000342175.10:c.67274C>G (TTN) ENSP00000340554.6:p.Thr22425Arg
ENST00000342992.10:c.86189C>G (TTN) ENSP00000343764.6:p.Thr28730Arg
ENST00000359218.9:c.67073C>G (TTN) ENSP00000352154.5:p.Thr22358Arg
ENST00000460472.6:c.66698C>G (TTN) ENSP00000434586.1:p.Thr22233Arg
ENST00000589042.5:c.93893C>G (TTN) MANE Select ENSP00000467141.1:p.Thr31298Arg
ENST00000591111.5:c.88970C>G (TTN) ENSP00000465570.1:p.Thr29657Arg
ENST00000615779.4:c.88970C>G (TTN) ENSP00000483597.1:p.Thr29657Arg
NM_001256850.1:c.88970C>G (TTN) NP_001243779.1:p.Thr29657Arg
NM_001267550.2:c.93893C>G (TTN) MANE Select NP_001254479.2:p.Thr31298Arg
NM_003319.4:c.66698C>G (TTN) NP_003310.4:p.Thr22233Arg
NM_133378.4:c.86189C>G (TTN) NP_596869.4:p.Thr28730Arg
NM_133432.3:c.67073C>G (TTN) NP_597676.3:p.Thr22358Arg
NM_133437.4:c.67274C>G (TTN) NP_597681.4:p.Thr22425Arg
NR_038271.1:n.447-23567G>C (TTN-AS1)
NR_038272.1:n.2043+5372G>C (TTN-AS1)
XM_011511729.1:c.92990C>G (TTN) XP_011510031.1:p.Thr30997Arg
XM_011511730.1:c.66884C>G (TTN) XP_011510032.1:p.Thr22295Arg
XM_011511731.1:c.66743C>G (TTN) XP_011510033.1:p.Thr22248Arg
XM_017004819.1:c.92786C>G (TTN) XP_016860308.1:p.Thr30929Arg
XM_017004820.1:c.88184C>G (TTN) XP_016860309.1:p.Thr29395Arg
XM_017004821.1:c.88181C>G (TTN) XP_016860310.1:p.Thr29394Arg
XM_017004822.1:c.85223C>G (TTN) XP_016860311.1:p.Thr28408Arg
XM_017004823.1:c.66839C>G (TTN) XP_016860312.1:p.Thr22280Arg
XM_024453094.1:c.88334C>G (TTN) XP_024308862.1:p.Thr29445Arg
XM_024453095.1:c.88331C>G (TTN) XP_024308863.1:p.Thr29444Arg
XM_024453096.1:c.87764C>G (TTN) XP_024308864.1:p.Thr29255Arg
XM_024453097.1:c.85106C>G (TTN) XP_024308865.1:p.Thr28369Arg
XM_024453098.1:c.85025C>G (TTN) XP_024308866.1:p.Thr28342Arg
XM_024453099.1:c.66788C>G (TTN) XP_024308867.1:p.Thr22263Arg
XM_024453100.1:c.56642C>G (TTN) XP_024308868.1:p.Thr18881Arg