Canonical Allele Identifier: CA289115
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 130688
dbSNP Id: rs141258018

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178767892C>T , CM000664.2:g.178767892C>T GRCh38
NC_000002.11:g.179632619C>T , CM000664.1:g.179632619C>T GRCh37
NC_000002.10:g.179340864C>T NCBI36
NG_011618.3:g.67911G>A , LRG_391:g.67911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.9338G>A ENSP00000343764.6:p.Arg3113His
ENST00000342175.11:c.9200G>A ENSP00000340554.6:p.Arg3067His
ENST00000359218.10:c.9200G>A ENSP00000352154.5:p.Arg3067His
ENST00000360870.10:c.9338G>A MANE Plus Clinical ENSP00000354117.4:p.Arg3113His
ENST00000342175.10:c.9200G>A ENSP00000340554.6:p.Arg3067His
ENST00000342992.10:c.9338G>A ENSP00000343764.6:p.Arg3113His
ENST00000359218.9:c.9200G>A ENSP00000352154.5:p.Arg3067His
ENST00000360870.9:c.9338G>A ENSP00000354117.4:p.Arg3113His
ENST00000460472.6:c.9200G>A ENSP00000434586.1:p.Arg3067His
ENST00000589042.5:c.9338G>A MANE Select ENSP00000467141.1:p.Arg3113His
ENST00000591111.5:c.9338G>A ENSP00000465570.1:p.Arg3113His
ENST00000615779.4:c.9338G>A ENSP00000483597.1:p.Arg3113His
NM_001256850.1:c.9338G>A NP_001243779.1:p.Arg3113His
NM_001267550.2:c.9338G>A MANE Select NP_001254479.2:p.Arg3113His
NM_003319.4:c.9200G>A NP_003310.4:p.Arg3067His
NM_133378.4:c.9338G>A NP_596869.4:p.Arg3113His
NM_133379.4:c.9338G>A , LRG_391t2:c.9338G>A NP_596870.2:p.Arg3113His
NM_133432.3:c.9200G>A NP_597676.3:p.Arg3067His
NM_133437.4:c.9200G>A NP_597681.4:p.Arg3067His
XM_011511729.1:c.9386G>A XP_011510031.1:p.Arg3129His
XM_011511730.1:c.9386G>A XP_011510032.1:p.Arg3129His
XM_011511731.1:c.9245G>A XP_011510033.1:p.Arg3082His
XM_011511732.1:c.9383G>A XP_011510034.1:p.Arg3128His
XM_017004819.1:c.9341G>A XP_016860308.1:p.Arg3114His
XM_017004820.1:c.9341G>A XP_016860309.1:p.Arg3114His
XM_017004821.1:c.9338G>A XP_016860310.1:p.Arg3113His
XM_017004822.1:c.9341G>A XP_016860311.1:p.Arg3114His
XM_017004823.1:c.9341G>A XP_016860312.1:p.Arg3114His
XM_024453094.1:c.9341G>A XP_024308862.1:p.Arg3114His
XM_024453095.1:c.9341G>A XP_024308863.1:p.Arg3114His
XM_024453096.1:c.9341G>A XP_024308864.1:p.Arg3114His
XM_024453097.1:c.9341G>A XP_024308865.1:p.Arg3114His
XM_024453098.1:c.9341G>A XP_024308866.1:p.Arg3114His
XM_024453099.1:c.9341G>A XP_024308867.1:p.Arg3114His
NM_133379.5:c.9338G>A MANE Plus Clinical NP_596870.2:p.Arg3113His