Canonical Allele Identifier: CA349622421

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618777A>C , CM000664.2:g.178618777A>C GRCh38
NC_000002.11:g.179483504A>C , CM000664.1:g.179483504A>C GRCh37
NC_000002.10:g.179191749A>C NCBI36
NG_011618.3:g.217026T>G , LRG_391:g.217026T>G
NG_051363.1:g.100951A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39069T>G (TTN) ENSP00000343764.6:p.Tyr13023Ter
ENST00000342175.11:c.20154T>G (TTN) ENSP00000340554.6:p.Tyr6718Ter
ENST00000359218.10:c.19953T>G (TTN) ENSP00000352154.5:p.Tyr6651Ter
ENST00000342175.10:c.20154T>G (TTN) ENSP00000340554.6:p.Tyr6718Ter
ENST00000342992.10:c.39069T>G (TTN) ENSP00000343764.6:p.Tyr13023Ter
ENST00000359218.9:c.19953T>G (TTN) ENSP00000352154.5:p.Tyr6651Ter
ENST00000460472.6:c.19578T>G (TTN) ENSP00000434586.1:p.Tyr6526Ter
ENST00000589042.5:c.46773T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr15591Ter
ENST00000591111.5:c.41850T>G (TTN) ENSP00000465570.1:p.Tyr13950Ter
ENST00000615779.4:c.41850T>G (TTN) ENSP00000483597.1:p.Tyr13950Ter
NM_001256850.1:c.41850T>G (TTN) NP_001243779.1:p.Tyr13950Ter
NM_001267550.2:c.46773T>G (TTN) MANE Select NP_001254479.2:p.Tyr15591Ter
NM_003319.4:c.19578T>G (TTN) NP_003310.4:p.Tyr6526Ter
NM_133378.4:c.39069T>G (TTN) NP_596869.4:p.Tyr13023Ter
NM_133432.3:c.19953T>G (TTN) NP_597676.3:p.Tyr6651Ter
NM_133437.4:c.20154T>G (TTN) NP_597681.4:p.Tyr6718Ter
NR_038271.1:n.1605-976A>C (TTN-AS1)
XM_011511729.1:c.45870T>G (TTN) XP_011510031.1:p.Tyr15290Ter
XM_011511730.1:c.19764T>G (TTN) XP_011510032.1:p.Tyr6588Ter
XM_011511731.1:c.19623T>G (TTN) XP_011510033.1:p.Tyr6541Ter
XM_017004819.1:c.45666T>G (TTN) XP_016860308.1:p.Tyr15222Ter
XM_017004820.1:c.41064T>G (TTN) XP_016860309.1:p.Tyr13688Ter
XM_017004821.1:c.41061T>G (TTN) XP_016860310.1:p.Tyr13687Ter
XM_017004822.1:c.38103T>G (TTN) XP_016860311.1:p.Tyr12701Ter
XM_017004823.1:c.19719T>G (TTN) XP_016860312.1:p.Tyr6573Ter
XM_024453094.1:c.41214T>G (TTN) XP_024308862.1:p.Tyr13738Ter
XM_024453095.1:c.41211T>G (TTN) XP_024308863.1:p.Tyr13737Ter
XM_024453096.1:c.40644T>G (TTN) XP_024308864.1:p.Tyr13548Ter
XM_024453097.1:c.37986T>G (TTN) XP_024308865.1:p.Tyr12662Ter
XM_024453098.1:c.37905T>G (TTN) XP_024308866.1:p.Tyr12635Ter
XM_024453099.1:c.19668T>G (TTN) XP_024308867.1:p.Tyr6556Ter
XM_024453100.1:c.9522T>G (TTN) XP_024308868.1:p.Tyr3174Ter