Canonical Allele Identifier: CA349510769

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552465A>C , CM000664.2:g.178552465A>C GRCh38
NC_000002.11:g.179417192A>C , CM000664.1:g.179417192A>C GRCh37
NC_000002.10:g.179125438A>C NCBI36
NG_011618.3:g.283338T>G , LRG_391:g.283338T>G
NG_051363.1:g.34639A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82731T>G (TTN) ENSP00000343764.6:p.Ile27577Met
ENST00000342175.11:c.63816T>G (TTN) ENSP00000340554.6:p.Ile21272Met
ENST00000359218.10:c.63615T>G (TTN) ENSP00000352154.5:p.Ile21205Met
ENST00000342175.10:c.63816T>G (TTN) ENSP00000340554.6:p.Ile21272Met
ENST00000342992.10:c.82731T>G (TTN) ENSP00000343764.6:p.Ile27577Met
ENST00000359218.9:c.63615T>G (TTN) ENSP00000352154.5:p.Ile21205Met
ENST00000460472.6:c.63240T>G (TTN) ENSP00000434586.1:p.Ile21080Met
ENST00000589042.5:c.90435T>G (TTN) MANE Select ENSP00000467141.1:p.Ile30145Met
ENST00000591111.5:c.85512T>G (TTN) ENSP00000465570.1:p.Ile28504Met
ENST00000615779.4:c.85512T>G (TTN) ENSP00000483597.1:p.Ile28504Met
NM_001256850.1:c.85512T>G (TTN) NP_001243779.1:p.Ile28504Met
NM_001267550.2:c.90435T>G (TTN) MANE Select NP_001254479.2:p.Ile30145Met
NM_003319.4:c.63240T>G (TTN) NP_003310.4:p.Ile21080Met
NM_133378.4:c.82731T>G (TTN) NP_596869.4:p.Ile27577Met
NM_133432.3:c.63615T>G (TTN) NP_597676.3:p.Ile21205Met
NM_133437.4:c.63816T>G (TTN) NP_597681.4:p.Ile21272Met
NR_038271.1:n.447-18835A>C (TTN-AS1)
NR_038272.1:n.2043+10104A>C (TTN-AS1)
XM_011511729.1:c.89532T>G (TTN) XP_011510031.1:p.Ile29844Met
XM_011511730.1:c.63426T>G (TTN) XP_011510032.1:p.Ile21142Met
XM_011511731.1:c.63285T>G (TTN) XP_011510033.1:p.Ile21095Met
XM_017004819.1:c.89328T>G (TTN) XP_016860308.1:p.Ile29776Met
XM_017004820.1:c.84726T>G (TTN) XP_016860309.1:p.Ile28242Met
XM_017004821.1:c.84723T>G (TTN) XP_016860310.1:p.Ile28241Met
XM_017004822.1:c.81765T>G (TTN) XP_016860311.1:p.Ile27255Met
XM_017004823.1:c.63381T>G (TTN) XP_016860312.1:p.Ile21127Met
XM_024453094.1:c.84876T>G (TTN) XP_024308862.1:p.Ile28292Met
XM_024453095.1:c.84873T>G (TTN) XP_024308863.1:p.Ile28291Met
XM_024453096.1:c.84306T>G (TTN) XP_024308864.1:p.Ile28102Met
XM_024453097.1:c.81648T>G (TTN) XP_024308865.1:p.Ile27216Met
XM_024453098.1:c.81567T>G (TTN) XP_024308866.1:p.Ile27189Met
XM_024453099.1:c.63330T>G (TTN) XP_024308867.1:p.Ile21110Met
XM_024453100.1:c.53184T>G (TTN) XP_024308868.1:p.Ile17728Met