Canonical Allele Identifier: CA349499579

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178550217C>G , CM000664.2:g.178550217C>G GRCh38
NC_000002.11:g.179414944C>G , CM000664.1:g.179414944C>G GRCh37
NC_000002.10:g.179123190C>G NCBI36
NG_011618.3:g.285586G>C , LRG_391:g.285586G>C
NG_051363.1:g.32391C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83917G>C (TTN) ENSP00000343764.6:p.Gly27973Arg
ENST00000342175.11:c.65002G>C (TTN) ENSP00000340554.6:p.Gly21668Arg
ENST00000359218.10:c.64801G>C (TTN) ENSP00000352154.5:p.Gly21601Arg
ENST00000342175.10:c.65002G>C (TTN) ENSP00000340554.6:p.Gly21668Arg
ENST00000342992.10:c.83917G>C (TTN) ENSP00000343764.6:p.Gly27973Arg
ENST00000359218.9:c.64801G>C (TTN) ENSP00000352154.5:p.Gly21601Arg
ENST00000460472.6:c.64426G>C (TTN) ENSP00000434586.1:p.Gly21476Arg
ENST00000589042.5:c.91621G>C (TTN) MANE Select ENSP00000467141.1:p.Gly30541Arg
ENST00000591111.5:c.86698G>C (TTN) ENSP00000465570.1:p.Gly28900Arg
ENST00000615779.4:c.86698G>C (TTN) ENSP00000483597.1:p.Gly28900Arg
NM_001256850.1:c.86698G>C (TTN) NP_001243779.1:p.Gly28900Arg
NM_001267550.2:c.91621G>C (TTN) MANE Select NP_001254479.2:p.Gly30541Arg
NM_003319.4:c.64426G>C (TTN) NP_003310.4:p.Gly21476Arg
NM_133378.4:c.83917G>C (TTN) NP_596869.4:p.Gly27973Arg
NM_133432.3:c.64801G>C (TTN) NP_597676.3:p.Gly21601Arg
NM_133437.4:c.65002G>C (TTN) NP_597681.4:p.Gly21668Arg
NR_038271.1:n.447-21083C>G (TTN-AS1)
NR_038272.1:n.2043+7856C>G (TTN-AS1)
XM_011511729.1:c.90718G>C (TTN) XP_011510031.1:p.Gly30240Arg
XM_011511730.1:c.64612G>C (TTN) XP_011510032.1:p.Gly21538Arg
XM_011511731.1:c.64471G>C (TTN) XP_011510033.1:p.Gly21491Arg
XM_017004819.1:c.90514G>C (TTN) XP_016860308.1:p.Gly30172Arg
XM_017004820.1:c.85912G>C (TTN) XP_016860309.1:p.Gly28638Arg
XM_017004821.1:c.85909G>C (TTN) XP_016860310.1:p.Gly28637Arg
XM_017004822.1:c.82951G>C (TTN) XP_016860311.1:p.Gly27651Arg
XM_017004823.1:c.64567G>C (TTN) XP_016860312.1:p.Gly21523Arg
XM_024453094.1:c.86062G>C (TTN) XP_024308862.1:p.Gly28688Arg
XM_024453095.1:c.86059G>C (TTN) XP_024308863.1:p.Gly28687Arg
XM_024453096.1:c.85492G>C (TTN) XP_024308864.1:p.Gly28498Arg
XM_024453097.1:c.82834G>C (TTN) XP_024308865.1:p.Gly27612Arg
XM_024453098.1:c.82753G>C (TTN) XP_024308866.1:p.Gly27585Arg
XM_024453099.1:c.64516G>C (TTN) XP_024308867.1:p.Gly21506Arg
XM_024453100.1:c.54370G>C (TTN) XP_024308868.1:p.Gly18124Arg