Canonical Allele Identifier: CA349470816

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546690A>C , CM000664.2:g.178546690A>C GRCh38
NC_000002.11:g.179411417A>C , CM000664.1:g.179411417A>C GRCh37
NC_000002.10:g.179119663A>C NCBI36
NG_011618.3:g.289113T>G , LRG_391:g.289113T>G
NG_051363.1:g.28864A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87034T>G (TTN) ENSP00000343764.6:p.Tyr29012Asp
ENST00000342175.11:c.68119T>G (TTN) ENSP00000340554.6:p.Tyr22707Asp
ENST00000359218.10:c.67918T>G (TTN) ENSP00000352154.5:p.Tyr22640Asp
ENST00000342175.10:c.68119T>G (TTN) ENSP00000340554.6:p.Tyr22707Asp
ENST00000342992.10:c.87034T>G (TTN) ENSP00000343764.6:p.Tyr29012Asp
ENST00000359218.9:c.67918T>G (TTN) ENSP00000352154.5:p.Tyr22640Asp
ENST00000460472.6:c.67543T>G (TTN) ENSP00000434586.1:p.Tyr22515Asp
ENST00000589042.5:c.94738T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr31580Asp
ENST00000591111.5:c.89815T>G (TTN) ENSP00000465570.1:p.Tyr29939Asp
ENST00000615779.4:c.89815T>G (TTN) ENSP00000483597.1:p.Tyr29939Asp
NM_001256850.1:c.89815T>G (TTN) NP_001243779.1:p.Tyr29939Asp
NM_001267550.2:c.94738T>G (TTN) MANE Select NP_001254479.2:p.Tyr31580Asp
NM_003319.4:c.67543T>G (TTN) NP_003310.4:p.Tyr22515Asp
NM_133378.4:c.87034T>G (TTN) NP_596869.4:p.Tyr29012Asp
NM_133432.3:c.67918T>G (TTN) NP_597676.3:p.Tyr22640Asp
NM_133437.4:c.68119T>G (TTN) NP_597681.4:p.Tyr22707Asp
NR_038271.1:n.446+23054A>C (TTN-AS1)
NR_038272.1:n.2043+4329A>C (TTN-AS1)
XM_011511729.1:c.93835T>G (TTN) XP_011510031.1:p.Tyr31279Asp
XM_011511730.1:c.67729T>G (TTN) XP_011510032.1:p.Tyr22577Asp
XM_011511731.1:c.67588T>G (TTN) XP_011510033.1:p.Tyr22530Asp
XM_017004819.1:c.93631T>G (TTN) XP_016860308.1:p.Tyr31211Asp
XM_017004820.1:c.89029T>G (TTN) XP_016860309.1:p.Tyr29677Asp
XM_017004821.1:c.89026T>G (TTN) XP_016860310.1:p.Tyr29676Asp
XM_017004822.1:c.86068T>G (TTN) XP_016860311.1:p.Tyr28690Asp
XM_017004823.1:c.67684T>G (TTN) XP_016860312.1:p.Tyr22562Asp
XM_024453094.1:c.89179T>G (TTN) XP_024308862.1:p.Tyr29727Asp
XM_024453095.1:c.89176T>G (TTN) XP_024308863.1:p.Tyr29726Asp
XM_024453096.1:c.88609T>G (TTN) XP_024308864.1:p.Tyr29537Asp
XM_024453097.1:c.85951T>G (TTN) XP_024308865.1:p.Tyr28651Asp
XM_024453098.1:c.85870T>G (TTN) XP_024308866.1:p.Tyr28624Asp
XM_024453099.1:c.67633T>G (TTN) XP_024308867.1:p.Tyr22545Asp
XM_024453100.1:c.57487T>G (TTN) XP_024308868.1:p.Tyr19163Asp