Canonical Allele Identifier: CA349458140

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544476A>T , CM000664.2:g.178544476A>T GRCh38
NC_000002.11:g.179409203A>T , CM000664.1:g.179409203A>T GRCh37
NC_000002.10:g.179117449A>T NCBI36
NG_011618.3:g.291327T>A , LRG_391:g.291327T>A
NG_051363.1:g.26650A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88049T>A (TTN) ENSP00000343764.6:p.Val29350Asp
ENST00000342175.11:c.69134T>A (TTN) ENSP00000340554.6:p.Val23045Asp
ENST00000359218.10:c.68933T>A (TTN) ENSP00000352154.5:p.Val22978Asp
ENST00000342175.10:c.69134T>A (TTN) ENSP00000340554.6:p.Val23045Asp
ENST00000342992.10:c.88049T>A (TTN) ENSP00000343764.6:p.Val29350Asp
ENST00000359218.9:c.68933T>A (TTN) ENSP00000352154.5:p.Val22978Asp
ENST00000460472.6:c.68558T>A (TTN) ENSP00000434586.1:p.Val22853Asp
ENST00000589042.5:c.95753T>A (TTN) MANE Select ENSP00000467141.1:p.Val31918Asp
ENST00000591111.5:c.90830T>A (TTN) ENSP00000465570.1:p.Val30277Asp
ENST00000615779.4:c.90830T>A (TTN) ENSP00000483597.1:p.Val30277Asp
NM_001256850.1:c.90830T>A (TTN) NP_001243779.1:p.Val30277Asp
NM_001267550.2:c.95753T>A (TTN) MANE Select NP_001254479.2:p.Val31918Asp
NM_003319.4:c.68558T>A (TTN) NP_003310.4:p.Val22853Asp
NM_133378.4:c.88049T>A (TTN) NP_596869.4:p.Val29350Asp
NM_133432.3:c.68933T>A (TTN) NP_597676.3:p.Val22978Asp
NM_133437.4:c.69134T>A (TTN) NP_597681.4:p.Val23045Asp
NR_038271.1:n.446+20840A>T (TTN-AS1)
NR_038272.1:n.2043+2115A>T (TTN-AS1)
XM_011511729.1:c.94850T>A (TTN) XP_011510031.1:p.Val31617Asp
XM_011511730.1:c.68744T>A (TTN) XP_011510032.1:p.Val22915Asp
XM_011511731.1:c.68603T>A (TTN) XP_011510033.1:p.Val22868Asp
XM_017004819.1:c.94646T>A (TTN) XP_016860308.1:p.Val31549Asp
XM_017004820.1:c.90044T>A (TTN) XP_016860309.1:p.Val30015Asp
XM_017004821.1:c.90041T>A (TTN) XP_016860310.1:p.Val30014Asp
XM_017004822.1:c.87083T>A (TTN) XP_016860311.1:p.Val29028Asp
XM_017004823.1:c.68699T>A (TTN) XP_016860312.1:p.Val22900Asp
XM_024453094.1:c.90194T>A (TTN) XP_024308862.1:p.Val30065Asp
XM_024453095.1:c.90191T>A (TTN) XP_024308863.1:p.Val30064Asp
XM_024453096.1:c.89624T>A (TTN) XP_024308864.1:p.Val29875Asp
XM_024453097.1:c.86966T>A (TTN) XP_024308865.1:p.Val28989Asp
XM_024453098.1:c.86885T>A (TTN) XP_024308866.1:p.Val28962Asp
XM_024453099.1:c.68648T>A (TTN) XP_024308867.1:p.Val22883Asp
XM_024453100.1:c.58502T>A (TTN) XP_024308868.1:p.Val19501Asp