Canonical Allele Identifier: CA310052

Linked Data

ClinVar Variation Id: 202710
dbSNP Id: rs369678018

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605515A>G , CM000664.2:g.178605515A>G GRCh38
NC_000002.11:g.179470242A>G , CM000664.1:g.179470242A>G GRCh37
NC_000002.10:g.179178487A>G NCBI36
NG_011618.3:g.230288T>C , LRG_391:g.230288T>C
NG_051363.1:g.87689A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.46076T>C (TTN) ENSP00000343764.6:p.Leu15359Pro
ENST00000342175.11:c.27161T>C (TTN) ENSP00000340554.6:p.Leu9054Pro
ENST00000359218.10:c.26960T>C (TTN) ENSP00000352154.5:p.Leu8987Pro
ENST00000342175.10:c.27161T>C (TTN) ENSP00000340554.6:p.Leu9054Pro
ENST00000342992.10:c.46076T>C (TTN) ENSP00000343764.6:p.Leu15359Pro
ENST00000359218.9:c.26960T>C (TTN) ENSP00000352154.5:p.Leu8987Pro
ENST00000460472.6:c.26585T>C (TTN) ENSP00000434586.1:p.Leu8862Pro
ENST00000589042.5:c.53780T>C (TTN) MANE Select ENSP00000467141.1:p.Leu17927Pro
ENST00000591111.5:c.48857T>C (TTN) ENSP00000465570.1:p.Leu16286Pro
ENST00000615779.4:c.48857T>C (TTN) ENSP00000483597.1:p.Leu16286Pro
NM_001256850.1:c.48857T>C (TTN) NP_001243779.1:p.Leu16286Pro
NM_001267550.2:c.53780T>C (TTN) MANE Select NP_001254479.2:p.Leu17927Pro
NM_003319.4:c.26585T>C (TTN) NP_003310.4:p.Leu8862Pro
NM_133378.4:c.46076T>C (TTN) NP_596869.4:p.Leu15359Pro
NM_133432.3:c.26960T>C (TTN) NP_597676.3:p.Leu8987Pro
NM_133437.4:c.27161T>C (TTN) NP_597681.4:p.Leu9054Pro
NR_038271.1:n.683-2652A>G (TTN-AS1)
XM_011511729.1:c.52877T>C (TTN) XP_011510031.1:p.Leu17626Pro
XM_011511730.1:c.26771T>C (TTN) XP_011510032.1:p.Leu8924Pro
XM_011511731.1:c.26630T>C (TTN) XP_011510033.1:p.Leu8877Pro
XM_017004819.1:c.52673T>C (TTN) XP_016860308.1:p.Leu17558Pro
XM_017004820.1:c.48071T>C (TTN) XP_016860309.1:p.Leu16024Pro
XM_017004821.1:c.48068T>C (TTN) XP_016860310.1:p.Leu16023Pro
XM_017004822.1:c.45110T>C (TTN) XP_016860311.1:p.Leu15037Pro
XM_017004823.1:c.26726T>C (TTN) XP_016860312.1:p.Leu8909Pro
XM_024453094.1:c.48221T>C (TTN) XP_024308862.1:p.Leu16074Pro
XM_024453095.1:c.48218T>C (TTN) XP_024308863.1:p.Leu16073Pro
XM_024453096.1:c.47651T>C (TTN) XP_024308864.1:p.Leu15884Pro
XM_024453097.1:c.44993T>C (TTN) XP_024308865.1:p.Leu14998Pro
XM_024453098.1:c.44912T>C (TTN) XP_024308866.1:p.Leu14971Pro
XM_024453099.1:c.26675T>C (TTN) XP_024308867.1:p.Leu8892Pro
XM_024453100.1:c.16529T>C (TTN) XP_024308868.1:p.Leu5510Pro