Canonical Allele Identifier: CA349411757

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532189A>C , CM000664.2:g.178532189A>C GRCh38
NC_000002.11:g.179396916A>C , CM000664.1:g.179396916A>C GRCh37
NC_000002.10:g.179105162A>C NCBI36
NG_011618.3:g.303614T>G , LRG_391:g.303614T>G
NG_051363.1:g.14363A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96722T>G (TTN) ENSP00000343764.6:p.Val32241Gly
ENST00000342175.11:c.77807T>G (TTN) ENSP00000340554.6:p.Val25936Gly
ENST00000359218.10:c.77606T>G (TTN) ENSP00000352154.5:p.Val25869Gly
ENST00000342175.10:c.77807T>G (TTN) ENSP00000340554.6:p.Val25936Gly
ENST00000342992.10:c.96722T>G (TTN) ENSP00000343764.6:p.Val32241Gly
ENST00000359218.9:c.77606T>G (TTN) ENSP00000352154.5:p.Val25869Gly
ENST00000460472.6:c.77231T>G (TTN) ENSP00000434586.1:p.Val25744Gly
ENST00000589042.5:c.104426T>G (TTN) MANE Select ENSP00000467141.1:p.Val34809Gly
ENST00000591111.5:c.99503T>G (TTN) ENSP00000465570.1:p.Val33168Gly
ENST00000615779.4:c.99503T>G (TTN) ENSP00000483597.1:p.Val33168Gly
NM_001256850.1:c.99503T>G (TTN) NP_001243779.1:p.Val33168Gly
NM_001267550.2:c.104426T>G (TTN) MANE Select NP_001254479.2:p.Val34809Gly
NM_003319.4:c.77231T>G (TTN) NP_003310.4:p.Val25744Gly
NM_133378.4:c.96722T>G (TTN) NP_596869.4:p.Val32241Gly
NM_133432.3:c.77606T>G (TTN) NP_597676.3:p.Val25869Gly
NM_133437.4:c.77807T>G (TTN) NP_597681.4:p.Val25936Gly
NR_038271.1:n.446+8553A>C (TTN-AS1)
NR_038272.1:n.220-3543A>C (TTN-AS1)
XM_011511729.1:c.103523T>G (TTN) XP_011510031.1:p.Val34508Gly
XM_011511730.1:c.77417T>G (TTN) XP_011510032.1:p.Val25806Gly
XM_011511731.1:c.77276T>G (TTN) XP_011510033.1:p.Val25759Gly
XM_017004819.1:c.103319T>G (TTN) XP_016860308.1:p.Val34440Gly
XM_017004820.1:c.98717T>G (TTN) XP_016860309.1:p.Val32906Gly
XM_017004821.1:c.98714T>G (TTN) XP_016860310.1:p.Val32905Gly
XM_017004822.1:c.95756T>G (TTN) XP_016860311.1:p.Val31919Gly
XM_017004823.1:c.77372T>G (TTN) XP_016860312.1:p.Val25791Gly
XM_024453094.1:c.98867T>G (TTN) XP_024308862.1:p.Val32956Gly
XM_024453095.1:c.98864T>G (TTN) XP_024308863.1:p.Val32955Gly
XM_024453096.1:c.98297T>G (TTN) XP_024308864.1:p.Val32766Gly
XM_024453097.1:c.95639T>G (TTN) XP_024308865.1:p.Val31880Gly
XM_024453098.1:c.95558T>G (TTN) XP_024308866.1:p.Val31853Gly
XM_024453099.1:c.77321T>G (TTN) XP_024308867.1:p.Val25774Gly
XM_024453100.1:c.67175T>G (TTN) XP_024308868.1:p.Val22392Gly