Canonical Allele Identifier: CA349471256

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546739A>C , CM000664.2:g.178546739A>C GRCh38
NC_000002.11:g.179411466A>C , CM000664.1:g.179411466A>C GRCh37
NC_000002.10:g.179119712A>C NCBI36
NG_011618.3:g.289064T>G , LRG_391:g.289064T>G
NG_051363.1:g.28913A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86985T>G (TTN) ENSP00000343764.6:p.Ile28995Met
ENST00000342175.11:c.68070T>G (TTN) ENSP00000340554.6:p.Ile22690Met
ENST00000359218.10:c.67869T>G (TTN) ENSP00000352154.5:p.Ile22623Met
ENST00000342175.10:c.68070T>G (TTN) ENSP00000340554.6:p.Ile22690Met
ENST00000342992.10:c.86985T>G (TTN) ENSP00000343764.6:p.Ile28995Met
ENST00000359218.9:c.67869T>G (TTN) ENSP00000352154.5:p.Ile22623Met
ENST00000460472.6:c.67494T>G (TTN) ENSP00000434586.1:p.Ile22498Met
ENST00000589042.5:c.94689T>G (TTN) MANE Select ENSP00000467141.1:p.Ile31563Met
ENST00000591111.5:c.89766T>G (TTN) ENSP00000465570.1:p.Ile29922Met
ENST00000615779.4:c.89766T>G (TTN) ENSP00000483597.1:p.Ile29922Met
NM_001256850.1:c.89766T>G (TTN) NP_001243779.1:p.Ile29922Met
NM_001267550.2:c.94689T>G (TTN) MANE Select NP_001254479.2:p.Ile31563Met
NM_003319.4:c.67494T>G (TTN) NP_003310.4:p.Ile22498Met
NM_133378.4:c.86985T>G (TTN) NP_596869.4:p.Ile28995Met
NM_133432.3:c.67869T>G (TTN) NP_597676.3:p.Ile22623Met
NM_133437.4:c.68070T>G (TTN) NP_597681.4:p.Ile22690Met
NR_038271.1:n.446+23103A>C (TTN-AS1)
NR_038272.1:n.2043+4378A>C (TTN-AS1)
XM_011511729.1:c.93786T>G (TTN) XP_011510031.1:p.Ile31262Met
XM_011511730.1:c.67680T>G (TTN) XP_011510032.1:p.Ile22560Met
XM_011511731.1:c.67539T>G (TTN) XP_011510033.1:p.Ile22513Met
XM_017004819.1:c.93582T>G (TTN) XP_016860308.1:p.Ile31194Met
XM_017004820.1:c.88980T>G (TTN) XP_016860309.1:p.Ile29660Met
XM_017004821.1:c.88977T>G (TTN) XP_016860310.1:p.Ile29659Met
XM_017004822.1:c.86019T>G (TTN) XP_016860311.1:p.Ile28673Met
XM_017004823.1:c.67635T>G (TTN) XP_016860312.1:p.Ile22545Met
XM_024453094.1:c.89130T>G (TTN) XP_024308862.1:p.Ile29710Met
XM_024453095.1:c.89127T>G (TTN) XP_024308863.1:p.Ile29709Met
XM_024453096.1:c.88560T>G (TTN) XP_024308864.1:p.Ile29520Met
XM_024453097.1:c.85902T>G (TTN) XP_024308865.1:p.Ile28634Met
XM_024453098.1:c.85821T>G (TTN) XP_024308866.1:p.Ile28607Met
XM_024453099.1:c.67584T>G (TTN) XP_024308867.1:p.Ile22528Met
XM_024453100.1:c.57438T>G (TTN) XP_024308868.1:p.Ile19146Met