Canonical Allele Identifier: CA349546218

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602434T>G , CM000664.2:g.178602434T>G GRCh38
NC_000002.11:g.179467161T>G , CM000664.1:g.179467161T>G GRCh37
NC_000002.10:g.179175406T>G NCBI36
NG_011618.3:g.233369A>C , LRG_391:g.233369A>C
NG_051363.1:g.84608T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47264A>C (TTN) ENSP00000343764.6:p.Asn15755Thr
ENST00000342175.11:c.28349A>C (TTN) ENSP00000340554.6:p.Asn9450Thr
ENST00000359218.10:c.28148A>C (TTN) ENSP00000352154.5:p.Asn9383Thr
ENST00000342175.10:c.28349A>C (TTN) ENSP00000340554.6:p.Asn9450Thr
ENST00000342992.10:c.47264A>C (TTN) ENSP00000343764.6:p.Asn15755Thr
ENST00000359218.9:c.28148A>C (TTN) ENSP00000352154.5:p.Asn9383Thr
ENST00000460472.6:c.27773A>C (TTN) ENSP00000434586.1:p.Asn9258Thr
ENST00000589042.5:c.54968A>C (TTN) MANE Select ENSP00000467141.1:p.Asn18323Thr
ENST00000591111.5:c.50045A>C (TTN) ENSP00000465570.1:p.Asn16682Thr
ENST00000615779.4:c.50045A>C (TTN) ENSP00000483597.1:p.Asn16682Thr
NM_001256850.1:c.50045A>C (TTN) NP_001243779.1:p.Asn16682Thr
NM_001267550.2:c.54968A>C (TTN) MANE Select NP_001254479.2:p.Asn18323Thr
NM_003319.4:c.27773A>C (TTN) NP_003310.4:p.Asn9258Thr
NM_133378.4:c.47264A>C (TTN) NP_596869.4:p.Asn15755Thr
NM_133432.3:c.28148A>C (TTN) NP_597676.3:p.Asn9383Thr
NM_133437.4:c.28349A>C (TTN) NP_597681.4:p.Asn9450Thr
NR_038271.1:n.682+4753T>G (TTN-AS1)
NR_038272.1:n.3917+1767T>G (TTN-AS1)
XM_011511729.1:c.54065A>C (TTN) XP_011510031.1:p.Asn18022Thr
XM_011511730.1:c.27959A>C (TTN) XP_011510032.1:p.Asn9320Thr
XM_011511731.1:c.27818A>C (TTN) XP_011510033.1:p.Asn9273Thr
XM_017004819.1:c.53861A>C (TTN) XP_016860308.1:p.Asn17954Thr
XM_017004820.1:c.49259A>C (TTN) XP_016860309.1:p.Asn16420Thr
XM_017004821.1:c.49256A>C (TTN) XP_016860310.1:p.Asn16419Thr
XM_017004822.1:c.46298A>C (TTN) XP_016860311.1:p.Asn15433Thr
XM_017004823.1:c.27914A>C (TTN) XP_016860312.1:p.Asn9305Thr
XM_024453094.1:c.49409A>C (TTN) XP_024308862.1:p.Asn16470Thr
XM_024453095.1:c.49406A>C (TTN) XP_024308863.1:p.Asn16469Thr
XM_024453096.1:c.48839A>C (TTN) XP_024308864.1:p.Asn16280Thr
XM_024453097.1:c.46181A>C (TTN) XP_024308865.1:p.Asn15394Thr
XM_024453098.1:c.46100A>C (TTN) XP_024308866.1:p.Asn15367Thr
XM_024453099.1:c.27863A>C (TTN) XP_024308867.1:p.Asn9288Thr
XM_024453100.1:c.17717A>C (TTN) XP_024308868.1:p.Asn5906Thr