Canonical Allele Identifier: CA349398134

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527012T>A , CM000664.2:g.178527012T>A GRCh38
NC_000002.11:g.179391739T>A , CM000664.1:g.179391739T>A GRCh37
NC_000002.10:g.179099985T>A NCBI36
NG_011618.3:g.308791A>T , LRG_391:g.308791A>T
NG_051363.1:g.9186T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100272A>T (TTN) ENSP00000343764.6:p.Ter33424Tyr
ENST00000342175.11:c.81357A>T (TTN) ENSP00000340554.6:p.Ter27119Tyr
ENST00000359218.10:c.81156A>T (TTN) ENSP00000352154.5:p.Ter27052Tyr
ENST00000342175.10:c.81357A>T (TTN) ENSP00000340554.6:p.Ter27119Tyr
ENST00000342992.10:c.100272A>T (TTN) ENSP00000343764.6:p.Ter33424Tyr
ENST00000359218.9:c.81156A>T (TTN) ENSP00000352154.5:p.Ter27052Tyr
ENST00000460472.6:c.80781A>T (TTN) ENSP00000434586.1:p.Ter26927Tyr
ENST00000589042.5:c.107976A>T (TTN) MANE Select ENSP00000467141.1:p.Ter35992Tyr
ENST00000591111.5:c.103053A>T (TTN) ENSP00000465570.1:p.Ter34351Tyr
ENST00000615779.4:c.103053A>T (TTN) ENSP00000483597.1:p.Ter34351Tyr
NM_001256850.1:c.103053A>T (TTN) NP_001243779.1:p.Ter34351Tyr
NM_001267550.2:c.107976A>T (TTN) MANE Select NP_001254479.2:p.Ter35992Tyr
NM_003319.4:c.80781A>T (TTN) NP_003310.4:p.Ter26927Tyr
NM_133378.4:c.100272A>T (TTN) NP_596869.4:p.Ter33424Tyr
NM_133432.3:c.81156A>T (TTN) NP_597676.3:p.Ter27052Tyr
NM_133437.4:c.81357A>T (TTN) NP_597681.4:p.Ter27119Tyr
NR_038271.1:n.446+3376T>A (TTN-AS1)
NR_038272.1:n.219+3376T>A (TTN-AS1)
XM_011511729.1:c.107073A>T (TTN) XP_011510031.1:p.Ter35691Tyr
XM_011511730.1:c.80967A>T (TTN) XP_011510032.1:p.Ter26989Tyr
XM_011511731.1:c.80826A>T (TTN) XP_011510033.1:p.Ter26942Tyr
XM_017004819.1:c.106869A>T (TTN) XP_016860308.1:p.Ter35623Tyr
XM_017004820.1:c.102267A>T (TTN) XP_016860309.1:p.Ter34089Tyr
XM_017004821.1:c.102264A>T (TTN) XP_016860310.1:p.Ter34088Tyr
XM_017004822.1:c.99306A>T (TTN) XP_016860311.1:p.Ter33102Tyr
XM_017004823.1:c.80922A>T (TTN) XP_016860312.1:p.Ter26974Tyr
XM_024453094.1:c.102417A>T (TTN) XP_024308862.1:p.Ter34139Tyr
XM_024453095.1:c.102414A>T (TTN) XP_024308863.1:p.Ter34138Tyr
XM_024453096.1:c.101847A>T (TTN) XP_024308864.1:p.Ter33949Tyr
XM_024453097.1:c.99189A>T (TTN) XP_024308865.1:p.Ter33063Tyr
XM_024453098.1:c.99108A>T (TTN) XP_024308866.1:p.Ter33036Tyr
XM_024453099.1:c.80871A>T (TTN) XP_024308867.1:p.Ter26957Tyr
XM_024453100.1:c.70725A>T (TTN) XP_024308868.1:p.Ter23575Tyr