Canonical Allele Identifier: CA349618131

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618050G>C , CM000664.2:g.178618050G>C GRCh38
NC_000002.11:g.179482777G>C , CM000664.1:g.179482777G>C GRCh37
NC_000002.10:g.179191022G>C NCBI36
NG_011618.3:g.217753C>G , LRG_391:g.217753C>G
NG_051363.1:g.100224G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39597C>G (TTN) ENSP00000343764.6:p.Ile13199Met
ENST00000342175.11:c.20682C>G (TTN) ENSP00000340554.6:p.Ile6894Met
ENST00000359218.10:c.20481C>G (TTN) ENSP00000352154.5:p.Ile6827Met
ENST00000342175.10:c.20682C>G (TTN) ENSP00000340554.6:p.Ile6894Met
ENST00000342992.10:c.39597C>G (TTN) ENSP00000343764.6:p.Ile13199Met
ENST00000359218.9:c.20481C>G (TTN) ENSP00000352154.5:p.Ile6827Met
ENST00000460472.6:c.20106C>G (TTN) ENSP00000434586.1:p.Ile6702Met
ENST00000589042.5:c.47301C>G (TTN) MANE Select ENSP00000467141.1:p.Ile15767Met
ENST00000591111.5:c.42378C>G (TTN) ENSP00000465570.1:p.Ile14126Met
ENST00000615779.4:c.42378C>G (TTN) ENSP00000483597.1:p.Ile14126Met
NM_001256850.1:c.42378C>G (TTN) NP_001243779.1:p.Ile14126Met
NM_001267550.2:c.47301C>G (TTN) MANE Select NP_001254479.2:p.Ile15767Met
NM_003319.4:c.20106C>G (TTN) NP_003310.4:p.Ile6702Met
NM_133378.4:c.39597C>G (TTN) NP_596869.4:p.Ile13199Met
NM_133432.3:c.20481C>G (TTN) NP_597676.3:p.Ile6827Met
NM_133437.4:c.20682C>G (TTN) NP_597681.4:p.Ile6894Met
NR_038271.1:n.1605-1703G>C (TTN-AS1)
XM_011511729.1:c.46398C>G (TTN) XP_011510031.1:p.Ile15466Met
XM_011511730.1:c.20292C>G (TTN) XP_011510032.1:p.Ile6764Met
XM_011511731.1:c.20151C>G (TTN) XP_011510033.1:p.Ile6717Met
XM_017004819.1:c.46194C>G (TTN) XP_016860308.1:p.Ile15398Met
XM_017004820.1:c.41592C>G (TTN) XP_016860309.1:p.Ile13864Met
XM_017004821.1:c.41589C>G (TTN) XP_016860310.1:p.Ile13863Met
XM_017004822.1:c.38631C>G (TTN) XP_016860311.1:p.Ile12877Met
XM_017004823.1:c.20247C>G (TTN) XP_016860312.1:p.Ile6749Met
XM_024453094.1:c.41742C>G (TTN) XP_024308862.1:p.Ile13914Met
XM_024453095.1:c.41739C>G (TTN) XP_024308863.1:p.Ile13913Met
XM_024453096.1:c.41172C>G (TTN) XP_024308864.1:p.Ile13724Met
XM_024453097.1:c.38514C>G (TTN) XP_024308865.1:p.Ile12838Met
XM_024453098.1:c.38433C>G (TTN) XP_024308866.1:p.Ile12811Met
XM_024453099.1:c.20196C>G (TTN) XP_024308867.1:p.Ile6732Met
XM_024453100.1:c.10050C>G (TTN) XP_024308868.1:p.Ile3350Met