Canonical Allele Identifier: CA349471523

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546762A>T , CM000664.2:g.178546762A>T GRCh38
NC_000002.11:g.179411489A>T , CM000664.1:g.179411489A>T GRCh37
NC_000002.10:g.179119735A>T NCBI36
NG_011618.3:g.289041T>A , LRG_391:g.289041T>A
NG_051363.1:g.28936A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86962T>A (TTN) ENSP00000343764.6:p.Trp28988Arg
ENST00000342175.11:c.68047T>A (TTN) ENSP00000340554.6:p.Trp22683Arg
ENST00000359218.10:c.67846T>A (TTN) ENSP00000352154.5:p.Trp22616Arg
ENST00000342175.10:c.68047T>A (TTN) ENSP00000340554.6:p.Trp22683Arg
ENST00000342992.10:c.86962T>A (TTN) ENSP00000343764.6:p.Trp28988Arg
ENST00000359218.9:c.67846T>A (TTN) ENSP00000352154.5:p.Trp22616Arg
ENST00000460472.6:c.67471T>A (TTN) ENSP00000434586.1:p.Trp22491Arg
ENST00000589042.5:c.94666T>A (TTN) MANE Select ENSP00000467141.1:p.Trp31556Arg
ENST00000591111.5:c.89743T>A (TTN) ENSP00000465570.1:p.Trp29915Arg
ENST00000615779.4:c.89743T>A (TTN) ENSP00000483597.1:p.Trp29915Arg
NM_001256850.1:c.89743T>A (TTN) NP_001243779.1:p.Trp29915Arg
NM_001267550.2:c.94666T>A (TTN) MANE Select NP_001254479.2:p.Trp31556Arg
NM_003319.4:c.67471T>A (TTN) NP_003310.4:p.Trp22491Arg
NM_133378.4:c.86962T>A (TTN) NP_596869.4:p.Trp28988Arg
NM_133432.3:c.67846T>A (TTN) NP_597676.3:p.Trp22616Arg
NM_133437.4:c.68047T>A (TTN) NP_597681.4:p.Trp22683Arg
NR_038271.1:n.446+23126A>T (TTN-AS1)
NR_038272.1:n.2043+4401A>T (TTN-AS1)
XM_011511729.1:c.93763T>A (TTN) XP_011510031.1:p.Trp31255Arg
XM_011511730.1:c.67657T>A (TTN) XP_011510032.1:p.Trp22553Arg
XM_011511731.1:c.67516T>A (TTN) XP_011510033.1:p.Trp22506Arg
XM_017004819.1:c.93559T>A (TTN) XP_016860308.1:p.Trp31187Arg
XM_017004820.1:c.88957T>A (TTN) XP_016860309.1:p.Trp29653Arg
XM_017004821.1:c.88954T>A (TTN) XP_016860310.1:p.Trp29652Arg
XM_017004822.1:c.85996T>A (TTN) XP_016860311.1:p.Trp28666Arg
XM_017004823.1:c.67612T>A (TTN) XP_016860312.1:p.Trp22538Arg
XM_024453094.1:c.89107T>A (TTN) XP_024308862.1:p.Trp29703Arg
XM_024453095.1:c.89104T>A (TTN) XP_024308863.1:p.Trp29702Arg
XM_024453096.1:c.88537T>A (TTN) XP_024308864.1:p.Trp29513Arg
XM_024453097.1:c.85879T>A (TTN) XP_024308865.1:p.Trp28627Arg
XM_024453098.1:c.85798T>A (TTN) XP_024308866.1:p.Trp28600Arg
XM_024453099.1:c.67561T>A (TTN) XP_024308867.1:p.Trp22521Arg
XM_024453100.1:c.57415T>A (TTN) XP_024308868.1:p.Trp19139Arg