Canonical Allele Identifier: CA349458075

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544471C>T , CM000664.2:g.178544471C>T GRCh38
NC_000002.11:g.179409198C>T , CM000664.1:g.179409198C>T GRCh37
NC_000002.10:g.179117444C>T NCBI36
NG_011618.3:g.291332G>A , LRG_391:g.291332G>A
NG_051363.1:g.26645C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88054G>A (TTN) ENSP00000343764.6:p.Asp29352Asn
ENST00000342175.11:c.69139G>A (TTN) ENSP00000340554.6:p.Asp23047Asn
ENST00000359218.10:c.68938G>A (TTN) ENSP00000352154.5:p.Asp22980Asn
ENST00000342175.10:c.69139G>A (TTN) ENSP00000340554.6:p.Asp23047Asn
ENST00000342992.10:c.88054G>A (TTN) ENSP00000343764.6:p.Asp29352Asn
ENST00000359218.9:c.68938G>A (TTN) ENSP00000352154.5:p.Asp22980Asn
ENST00000460472.6:c.68563G>A (TTN) ENSP00000434586.1:p.Asp22855Asn
ENST00000589042.5:c.95758G>A (TTN) MANE Select ENSP00000467141.1:p.Asp31920Asn
ENST00000591111.5:c.90835G>A (TTN) ENSP00000465570.1:p.Asp30279Asn
ENST00000615779.4:c.90835G>A (TTN) ENSP00000483597.1:p.Asp30279Asn
NM_001256850.1:c.90835G>A (TTN) NP_001243779.1:p.Asp30279Asn
NM_001267550.2:c.95758G>A (TTN) MANE Select NP_001254479.2:p.Asp31920Asn
NM_003319.4:c.68563G>A (TTN) NP_003310.4:p.Asp22855Asn
NM_133378.4:c.88054G>A (TTN) NP_596869.4:p.Asp29352Asn
NM_133432.3:c.68938G>A (TTN) NP_597676.3:p.Asp22980Asn
NM_133437.4:c.69139G>A (TTN) NP_597681.4:p.Asp23047Asn
NR_038271.1:n.446+20835C>T (TTN-AS1)
NR_038272.1:n.2043+2110C>T (TTN-AS1)
XM_011511729.1:c.94855G>A (TTN) XP_011510031.1:p.Asp31619Asn
XM_011511730.1:c.68749G>A (TTN) XP_011510032.1:p.Asp22917Asn
XM_011511731.1:c.68608G>A (TTN) XP_011510033.1:p.Asp22870Asn
XM_017004819.1:c.94651G>A (TTN) XP_016860308.1:p.Asp31551Asn
XM_017004820.1:c.90049G>A (TTN) XP_016860309.1:p.Asp30017Asn
XM_017004821.1:c.90046G>A (TTN) XP_016860310.1:p.Asp30016Asn
XM_017004822.1:c.87088G>A (TTN) XP_016860311.1:p.Asp29030Asn
XM_017004823.1:c.68704G>A (TTN) XP_016860312.1:p.Asp22902Asn
XM_024453094.1:c.90199G>A (TTN) XP_024308862.1:p.Asp30067Asn
XM_024453095.1:c.90196G>A (TTN) XP_024308863.1:p.Asp30066Asn
XM_024453096.1:c.89629G>A (TTN) XP_024308864.1:p.Asp29877Asn
XM_024453097.1:c.86971G>A (TTN) XP_024308865.1:p.Asp28991Asn
XM_024453098.1:c.86890G>A (TTN) XP_024308866.1:p.Asp28964Asn
XM_024453099.1:c.68653G>A (TTN) XP_024308867.1:p.Asp22885Asn
XM_024453100.1:c.58507G>A (TTN) XP_024308868.1:p.Asp19503Asn