Canonical Allele Identifier: CA349405470

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530083C>T , CM000664.2:g.178530083C>T GRCh38
NC_000002.11:g.179394810C>T , CM000664.1:g.179394810C>T GRCh37
NC_000002.10:g.179103056C>T NCBI36
NG_011618.3:g.305720G>A , LRG_391:g.305720G>A
NG_051363.1:g.12257C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98704G>A (TTN) ENSP00000343764.6:p.Glu32902Lys
ENST00000342175.11:c.79789G>A (TTN) ENSP00000340554.6:p.Glu26597Lys
ENST00000359218.10:c.79588G>A (TTN) ENSP00000352154.5:p.Glu26530Lys
ENST00000342175.10:c.79789G>A (TTN) ENSP00000340554.6:p.Glu26597Lys
ENST00000342992.10:c.98704G>A (TTN) ENSP00000343764.6:p.Glu32902Lys
ENST00000359218.9:c.79588G>A (TTN) ENSP00000352154.5:p.Glu26530Lys
ENST00000460472.6:c.79213G>A (TTN) ENSP00000434586.1:p.Glu26405Lys
ENST00000589042.5:c.106408G>A (TTN) MANE Select ENSP00000467141.1:p.Glu35470Lys
ENST00000591111.5:c.101485G>A (TTN) ENSP00000465570.1:p.Glu33829Lys
ENST00000615779.4:c.101485G>A (TTN) ENSP00000483597.1:p.Glu33829Lys
NM_001256850.1:c.101485G>A (TTN) NP_001243779.1:p.Glu33829Lys
NM_001267550.2:c.106408G>A (TTN) MANE Select NP_001254479.2:p.Glu35470Lys
NM_003319.4:c.79213G>A (TTN) NP_003310.4:p.Glu26405Lys
NM_133378.4:c.98704G>A (TTN) NP_596869.4:p.Glu32902Lys
NM_133432.3:c.79588G>A (TTN) NP_597676.3:p.Glu26530Lys
NM_133437.4:c.79789G>A (TTN) NP_597681.4:p.Glu26597Lys
NR_038271.1:n.446+6447C>T (TTN-AS1)
NR_038272.1:n.220-5649C>T (TTN-AS1)
XM_011511729.1:c.105505G>A (TTN) XP_011510031.1:p.Glu35169Lys
XM_011511730.1:c.79399G>A (TTN) XP_011510032.1:p.Glu26467Lys
XM_011511731.1:c.79258G>A (TTN) XP_011510033.1:p.Glu26420Lys
XM_017004819.1:c.105301G>A (TTN) XP_016860308.1:p.Glu35101Lys
XM_017004820.1:c.100699G>A (TTN) XP_016860309.1:p.Glu33567Lys
XM_017004821.1:c.100696G>A (TTN) XP_016860310.1:p.Glu33566Lys
XM_017004822.1:c.97738G>A (TTN) XP_016860311.1:p.Glu32580Lys
XM_017004823.1:c.79354G>A (TTN) XP_016860312.1:p.Glu26452Lys
XM_024453094.1:c.100849G>A (TTN) XP_024308862.1:p.Glu33617Lys
XM_024453095.1:c.100846G>A (TTN) XP_024308863.1:p.Glu33616Lys
XM_024453096.1:c.100279G>A (TTN) XP_024308864.1:p.Glu33427Lys
XM_024453097.1:c.97621G>A (TTN) XP_024308865.1:p.Glu32541Lys
XM_024453098.1:c.97540G>A (TTN) XP_024308866.1:p.Glu32514Lys
XM_024453099.1:c.79303G>A (TTN) XP_024308867.1:p.Glu26435Lys
XM_024453100.1:c.69157G>A (TTN) XP_024308868.1:p.Glu23053Lys