Canonical Allele Identifier: CA349488452

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591880G>T , CM000664.2:g.178591880G>T GRCh38
NC_000002.11:g.179456607G>T , CM000664.1:g.179456607G>T GRCh37
NC_000002.10:g.179164853G>T NCBI36
NG_011618.3:g.243923C>A , LRG_391:g.243923C>A
NG_051363.1:g.74054G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52235C>A (TTN) ENSP00000343764.6:p.Pro17412Gln
ENST00000342175.11:c.33320C>A (TTN) ENSP00000340554.6:p.Pro11107Gln
ENST00000359218.10:c.33119C>A (TTN) ENSP00000352154.5:p.Pro11040Gln
ENST00000342175.10:c.33320C>A (TTN) ENSP00000340554.6:p.Pro11107Gln
ENST00000342992.10:c.52235C>A (TTN) ENSP00000343764.6:p.Pro17412Gln
ENST00000359218.9:c.33119C>A (TTN) ENSP00000352154.5:p.Pro11040Gln
ENST00000460472.6:c.32744C>A (TTN) ENSP00000434586.1:p.Pro10915Gln
ENST00000589042.5:c.59939C>A (TTN) MANE Select ENSP00000467141.1:p.Pro19980Gln
ENST00000591111.5:c.55016C>A (TTN) ENSP00000465570.1:p.Pro18339Gln
ENST00000615779.4:c.55016C>A (TTN) ENSP00000483597.1:p.Pro18339Gln
NM_001256850.1:c.55016C>A (TTN) NP_001243779.1:p.Pro18339Gln
NM_001267550.2:c.59939C>A (TTN) MANE Select NP_001254479.2:p.Pro19980Gln
NM_003319.4:c.32744C>A (TTN) NP_003310.4:p.Pro10915Gln
NM_133378.4:c.52235C>A (TTN) NP_596869.4:p.Pro17412Gln
NM_133432.3:c.33119C>A (TTN) NP_597676.3:p.Pro11040Gln
NM_133437.4:c.33320C>A (TTN) NP_597681.4:p.Pro11107Gln
NR_038271.1:n.597-5716G>T (TTN-AS1)
NR_038272.1:n.3364+566G>T (TTN-AS1)
XM_011511729.1:c.59036C>A (TTN) XP_011510031.1:p.Pro19679Gln
XM_011511730.1:c.32930C>A (TTN) XP_011510032.1:p.Pro10977Gln
XM_011511731.1:c.32789C>A (TTN) XP_011510033.1:p.Pro10930Gln
XM_017004819.1:c.58832C>A (TTN) XP_016860308.1:p.Pro19611Gln
XM_017004820.1:c.54230C>A (TTN) XP_016860309.1:p.Pro18077Gln
XM_017004821.1:c.54227C>A (TTN) XP_016860310.1:p.Pro18076Gln
XM_017004822.1:c.51269C>A (TTN) XP_016860311.1:p.Pro17090Gln
XM_017004823.1:c.32885C>A (TTN) XP_016860312.1:p.Pro10962Gln
XM_024453094.1:c.54380C>A (TTN) XP_024308862.1:p.Pro18127Gln
XM_024453095.1:c.54377C>A (TTN) XP_024308863.1:p.Pro18126Gln
XM_024453096.1:c.53810C>A (TTN) XP_024308864.1:p.Pro17937Gln
XM_024453097.1:c.51152C>A (TTN) XP_024308865.1:p.Pro17051Gln
XM_024453098.1:c.51071C>A (TTN) XP_024308866.1:p.Pro17024Gln
XM_024453099.1:c.32834C>A (TTN) XP_024308867.1:p.Pro10945Gln
XM_024453100.1:c.22688C>A (TTN) XP_024308868.1:p.Pro7563Gln