Canonical Allele Identifier: CA1310518144

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532247G= , CM000664.2:g.178532247G= GRCh38
NC_000002.11:g.179396974G= , CM000664.1:g.179396974G= GRCh37
NC_000002.10:g.179105220G= NCBI36
NG_011618.3:g.303556C= , LRG_391:g.303556C=
NG_051363.1:g.14421G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96664C= (TTN) ENSP00000343764.6:p.Leu32222=
ENST00000342175.11:c.77749C= (TTN) ENSP00000340554.6:p.Leu25917=
ENST00000359218.10:c.77548C= (TTN) ENSP00000352154.5:p.Leu25850=
ENST00000342175.10:c.77749C= (TTN) ENSP00000340554.6:p.Leu25917=
ENST00000342992.10:c.96664C= (TTN) ENSP00000343764.6:p.Leu32222=
ENST00000359218.9:c.77548C= (TTN) ENSP00000352154.5:p.Leu25850=
ENST00000460472.6:c.77173C= (TTN) ENSP00000434586.1:p.Leu25725=
ENST00000589042.5:c.104368C= (TTN) MANE Select ENSP00000467141.1:p.Leu34790=
ENST00000591111.5:c.99445C= (TTN) ENSP00000465570.1:p.Leu33149=
ENST00000615779.4:c.99445C= (TTN) ENSP00000483597.1:p.Leu33149=
NM_001256850.1:c.99445C= (TTN) NP_001243779.1:p.Leu33149=
NM_001267550.2:c.104368C= (TTN) MANE Select NP_001254479.2:p.Leu34790=
NM_003319.4:c.77173C= (TTN) NP_003310.4:p.Leu25725=
NM_133378.4:c.96664C= (TTN) NP_596869.4:p.Leu32222=
NM_133432.3:c.77548C= (TTN) NP_597676.3:p.Leu25850=
NM_133437.4:c.77749C= (TTN) NP_597681.4:p.Leu25917=
NR_038271.1:n.446+8611G= (TTN-AS1)
NR_038272.1:n.220-3485G= (TTN-AS1)
XM_011511729.1:c.103465C= (TTN) XP_011510031.1:p.Leu34489=
XM_011511730.1:c.77359C= (TTN) XP_011510032.1:p.Leu25787=
XM_011511731.1:c.77218C= (TTN) XP_011510033.1:p.Leu25740=
XM_017004819.1:c.103261C= (TTN) XP_016860308.1:p.Leu34421=
XM_017004820.1:c.98659C= (TTN) XP_016860309.1:p.Leu32887=
XM_017004821.1:c.98656C= (TTN) XP_016860310.1:p.Leu32886=
XM_017004822.1:c.95698C= (TTN) XP_016860311.1:p.Leu31900=
XM_017004823.1:c.77314C= (TTN) XP_016860312.1:p.Leu25772=
XM_024453094.1:c.98809C= (TTN) XP_024308862.1:p.Leu32937=
XM_024453095.1:c.98806C= (TTN) XP_024308863.1:p.Leu32936=
XM_024453096.1:c.98239C= (TTN) XP_024308864.1:p.Leu32747=
XM_024453097.1:c.95581C= (TTN) XP_024308865.1:p.Leu31861=
XM_024453098.1:c.95500C= (TTN) XP_024308866.1:p.Leu31834=
XM_024453099.1:c.77263C= (TTN) XP_024308867.1:p.Leu25755=
XM_024453100.1:c.67117C= (TTN) XP_024308868.1:p.Leu22373=