Canonical Allele Identifier: CA349398176

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527033A>C , CM000664.2:g.178527033A>C GRCh38
NC_000002.11:g.179391760A>C , CM000664.1:g.179391760A>C GRCh37
NC_000002.10:g.179100006A>C NCBI36
NG_011618.3:g.308770T>G , LRG_391:g.308770T>G
NG_051363.1:g.9207A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100251T>G (TTN) ENSP00000343764.6:p.Asn33417Lys
ENST00000342175.11:c.81336T>G (TTN) ENSP00000340554.6:p.Asn27112Lys
ENST00000359218.10:c.81135T>G (TTN) ENSP00000352154.5:p.Asn27045Lys
ENST00000342175.10:c.81336T>G (TTN) ENSP00000340554.6:p.Asn27112Lys
ENST00000342992.10:c.100251T>G (TTN) ENSP00000343764.6:p.Asn33417Lys
ENST00000359218.9:c.81135T>G (TTN) ENSP00000352154.5:p.Asn27045Lys
ENST00000460472.6:c.80760T>G (TTN) ENSP00000434586.1:p.Asn26920Lys
ENST00000589042.5:c.107955T>G (TTN) MANE Select ENSP00000467141.1:p.Asn35985Lys
ENST00000591111.5:c.103032T>G (TTN) ENSP00000465570.1:p.Asn34344Lys
ENST00000615779.4:c.103032T>G (TTN) ENSP00000483597.1:p.Asn34344Lys
NM_001256850.1:c.103032T>G (TTN) NP_001243779.1:p.Asn34344Lys
NM_001267550.2:c.107955T>G (TTN) MANE Select NP_001254479.2:p.Asn35985Lys
NM_003319.4:c.80760T>G (TTN) NP_003310.4:p.Asn26920Lys
NM_133378.4:c.100251T>G (TTN) NP_596869.4:p.Asn33417Lys
NM_133432.3:c.81135T>G (TTN) NP_597676.3:p.Asn27045Lys
NM_133437.4:c.81336T>G (TTN) NP_597681.4:p.Asn27112Lys
NR_038271.1:n.446+3397A>C (TTN-AS1)
NR_038272.1:n.219+3397A>C (TTN-AS1)
XM_011511729.1:c.107052T>G (TTN) XP_011510031.1:p.Asn35684Lys
XM_011511730.1:c.80946T>G (TTN) XP_011510032.1:p.Asn26982Lys
XM_011511731.1:c.80805T>G (TTN) XP_011510033.1:p.Asn26935Lys
XM_017004819.1:c.106848T>G (TTN) XP_016860308.1:p.Asn35616Lys
XM_017004820.1:c.102246T>G (TTN) XP_016860309.1:p.Asn34082Lys
XM_017004821.1:c.102243T>G (TTN) XP_016860310.1:p.Asn34081Lys
XM_017004822.1:c.99285T>G (TTN) XP_016860311.1:p.Asn33095Lys
XM_017004823.1:c.80901T>G (TTN) XP_016860312.1:p.Asn26967Lys
XM_024453094.1:c.102396T>G (TTN) XP_024308862.1:p.Asn34132Lys
XM_024453095.1:c.102393T>G (TTN) XP_024308863.1:p.Asn34131Lys
XM_024453096.1:c.101826T>G (TTN) XP_024308864.1:p.Asn33942Lys
XM_024453097.1:c.99168T>G (TTN) XP_024308865.1:p.Asn33056Lys
XM_024453098.1:c.99087T>G (TTN) XP_024308866.1:p.Asn33029Lys
XM_024453099.1:c.80850T>G (TTN) XP_024308867.1:p.Asn26950Lys
XM_024453100.1:c.70704T>G (TTN) XP_024308868.1:p.Asn23568Lys