Canonical Allele Identifier: CA349645635
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630331G>C , CM000664.2:g.178630331G>C GRCh38
NC_000002.11:g.179495058G>C , CM000664.1:g.179495058G>C GRCh37
NC_000002.10:g.179203303G>C NCBI36
NG_011618.3:g.205472C>G , LRG_391:g.205472C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.36487C>G ENSP00000343764.6:p.Leu12163Val
ENST00000342175.11:c.17572C>G ENSP00000340554.6:p.Leu5858Val
ENST00000359218.10:c.17371C>G ENSP00000352154.5:p.Leu5791Val
ENST00000342175.10:c.17572C>G ENSP00000340554.6:p.Leu5858Val
ENST00000342992.10:c.36487C>G ENSP00000343764.6:p.Leu12163Val
ENST00000359218.9:c.17371C>G ENSP00000352154.5:p.Leu5791Val
ENST00000460472.6:c.16996C>G ENSP00000434586.1:p.Leu5666Val
ENST00000589042.5:c.44191C>G MANE Select ENSP00000467141.1:p.Leu14731Val
ENST00000591111.5:c.39268C>G ENSP00000465570.1:p.Leu13090Val
ENST00000615779.4:c.39268C>G ENSP00000483597.1:p.Leu13090Val
NM_001256850.1:c.39268C>G NP_001243779.1:p.Leu13090Val
NM_001267550.2:c.44191C>G MANE Select NP_001254479.2:p.Leu14731Val
NM_003319.4:c.16996C>G NP_003310.4:p.Leu5666Val
NM_133378.4:c.36487C>G NP_596869.4:p.Leu12163Val
NM_133432.3:c.17371C>G NP_597676.3:p.Leu5791Val
NM_133437.4:c.17572C>G NP_597681.4:p.Leu5858Val
XM_011511729.1:c.43288C>G XP_011510031.1:p.Leu14430Val
XM_011511730.1:c.17182C>G XP_011510032.1:p.Leu5728Val
XM_011511731.1:c.17041C>G XP_011510033.1:p.Leu5681Val
XM_017004819.1:c.43084C>G XP_016860308.1:p.Leu14362Val
XM_017004820.1:c.38482C>G XP_016860309.1:p.Leu12828Val
XM_017004821.1:c.38479C>G XP_016860310.1:p.Leu12827Val
XM_017004822.1:c.35521C>G XP_016860311.1:p.Leu11841Val
XM_017004823.1:c.17137C>G XP_016860312.1:p.Leu5713Val
XM_024453094.1:c.38632C>G XP_024308862.1:p.Leu12878Val
XM_024453095.1:c.38629C>G XP_024308863.1:p.Leu12877Val
XM_024453096.1:c.38062C>G XP_024308864.1:p.Leu12688Val
XM_024453097.1:c.35404C>G XP_024308865.1:p.Leu11802Val
XM_024453098.1:c.35323C>G XP_024308866.1:p.Leu11775Val
XM_024453099.1:c.17086C>G XP_024308867.1:p.Leu5696Val
XM_024453100.1:c.6940C>G XP_024308868.1:p.Leu2314Val