Canonical Allele Identifier: CA349406870

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530458A>T , CM000664.2:g.178530458A>T GRCh38
NC_000002.11:g.179395185A>T , CM000664.1:g.179395185A>T GRCh37
NC_000002.10:g.179103431A>T NCBI36
NG_011618.3:g.305345T>A , LRG_391:g.305345T>A
NG_051363.1:g.12632A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98453T>A (TTN) ENSP00000343764.6:p.Val32818Glu
ENST00000342175.11:c.79538T>A (TTN) ENSP00000340554.6:p.Val26513Glu
ENST00000359218.10:c.79337T>A (TTN) ENSP00000352154.5:p.Val26446Glu
ENST00000342175.10:c.79538T>A (TTN) ENSP00000340554.6:p.Val26513Glu
ENST00000342992.10:c.98453T>A (TTN) ENSP00000343764.6:p.Val32818Glu
ENST00000359218.9:c.79337T>A (TTN) ENSP00000352154.5:p.Val26446Glu
ENST00000460472.6:c.78962T>A (TTN) ENSP00000434586.1:p.Val26321Glu
ENST00000589042.5:c.106157T>A (TTN) MANE Select ENSP00000467141.1:p.Val35386Glu
ENST00000591111.5:c.101234T>A (TTN) ENSP00000465570.1:p.Val33745Glu
ENST00000615779.4:c.101234T>A (TTN) ENSP00000483597.1:p.Val33745Glu
NM_001256850.1:c.101234T>A (TTN) NP_001243779.1:p.Val33745Glu
NM_001267550.2:c.106157T>A (TTN) MANE Select NP_001254479.2:p.Val35386Glu
NM_003319.4:c.78962T>A (TTN) NP_003310.4:p.Val26321Glu
NM_133378.4:c.98453T>A (TTN) NP_596869.4:p.Val32818Glu
NM_133432.3:c.79337T>A (TTN) NP_597676.3:p.Val26446Glu
NM_133437.4:c.79538T>A (TTN) NP_597681.4:p.Val26513Glu
NR_038271.1:n.446+6822A>T (TTN-AS1)
NR_038272.1:n.220-5274A>T (TTN-AS1)
XM_011511729.1:c.105254T>A (TTN) XP_011510031.1:p.Val35085Glu
XM_011511730.1:c.79148T>A (TTN) XP_011510032.1:p.Val26383Glu
XM_011511731.1:c.79007T>A (TTN) XP_011510033.1:p.Val26336Glu
XM_017004819.1:c.105050T>A (TTN) XP_016860308.1:p.Val35017Glu
XM_017004820.1:c.100448T>A (TTN) XP_016860309.1:p.Val33483Glu
XM_017004821.1:c.100445T>A (TTN) XP_016860310.1:p.Val33482Glu
XM_017004822.1:c.97487T>A (TTN) XP_016860311.1:p.Val32496Glu
XM_017004823.1:c.79103T>A (TTN) XP_016860312.1:p.Val26368Glu
XM_024453094.1:c.100598T>A (TTN) XP_024308862.1:p.Val33533Glu
XM_024453095.1:c.100595T>A (TTN) XP_024308863.1:p.Val33532Glu
XM_024453096.1:c.100028T>A (TTN) XP_024308864.1:p.Val33343Glu
XM_024453097.1:c.97370T>A (TTN) XP_024308865.1:p.Val32457Glu
XM_024453098.1:c.97289T>A (TTN) XP_024308866.1:p.Val32430Glu
XM_024453099.1:c.79052T>A (TTN) XP_024308867.1:p.Val26351Glu
XM_024453100.1:c.68906T>A (TTN) XP_024308868.1:p.Val22969Glu