Canonical Allele Identifier: CA349456500

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544351G>T , CM000664.2:g.178544351G>T GRCh38
NC_000002.11:g.179409078G>T , CM000664.1:g.179409078G>T GRCh37
NC_000002.10:g.179117324G>T NCBI36
NG_011618.3:g.291452C>A , LRG_391:g.291452C>A
NG_051363.1:g.26525G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88174C>A (TTN) ENSP00000343764.6:p.His29392Asn
ENST00000342175.11:c.69259C>A (TTN) ENSP00000340554.6:p.His23087Asn
ENST00000359218.10:c.69058C>A (TTN) ENSP00000352154.5:p.His23020Asn
ENST00000342175.10:c.69259C>A (TTN) ENSP00000340554.6:p.His23087Asn
ENST00000342992.10:c.88174C>A (TTN) ENSP00000343764.6:p.His29392Asn
ENST00000359218.9:c.69058C>A (TTN) ENSP00000352154.5:p.His23020Asn
ENST00000460472.6:c.68683C>A (TTN) ENSP00000434586.1:p.His22895Asn
ENST00000589042.5:c.95878C>A (TTN) MANE Select ENSP00000467141.1:p.His31960Asn
ENST00000591111.5:c.90955C>A (TTN) ENSP00000465570.1:p.His30319Asn
ENST00000615779.4:c.90955C>A (TTN) ENSP00000483597.1:p.His30319Asn
NM_001256850.1:c.90955C>A (TTN) NP_001243779.1:p.His30319Asn
NM_001267550.2:c.95878C>A (TTN) MANE Select NP_001254479.2:p.His31960Asn
NM_003319.4:c.68683C>A (TTN) NP_003310.4:p.His22895Asn
NM_133378.4:c.88174C>A (TTN) NP_596869.4:p.His29392Asn
NM_133432.3:c.69058C>A (TTN) NP_597676.3:p.His23020Asn
NM_133437.4:c.69259C>A (TTN) NP_597681.4:p.His23087Asn
NR_038271.1:n.446+20715G>T (TTN-AS1)
NR_038272.1:n.2043+1990G>T (TTN-AS1)
XM_011511729.1:c.94975C>A (TTN) XP_011510031.1:p.His31659Asn
XM_011511730.1:c.68869C>A (TTN) XP_011510032.1:p.His22957Asn
XM_011511731.1:c.68728C>A (TTN) XP_011510033.1:p.His22910Asn
XM_017004819.1:c.94771C>A (TTN) XP_016860308.1:p.His31591Asn
XM_017004820.1:c.90169C>A (TTN) XP_016860309.1:p.His30057Asn
XM_017004821.1:c.90166C>A (TTN) XP_016860310.1:p.His30056Asn
XM_017004822.1:c.87208C>A (TTN) XP_016860311.1:p.His29070Asn
XM_017004823.1:c.68824C>A (TTN) XP_016860312.1:p.His22942Asn
XM_024453094.1:c.90319C>A (TTN) XP_024308862.1:p.His30107Asn
XM_024453095.1:c.90316C>A (TTN) XP_024308863.1:p.His30106Asn
XM_024453096.1:c.89749C>A (TTN) XP_024308864.1:p.His29917Asn
XM_024453097.1:c.87091C>A (TTN) XP_024308865.1:p.His29031Asn
XM_024453098.1:c.87010C>A (TTN) XP_024308866.1:p.His29004Asn
XM_024453099.1:c.68773C>A (TTN) XP_024308867.1:p.His22925Asn
XM_024453100.1:c.58627C>A (TTN) XP_024308868.1:p.His19543Asn