Canonical Allele Identifier: CA1310523342

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546708G= , CM000664.2:g.178546708G= GRCh38
NC_000002.11:g.179411435G= , CM000664.1:g.179411435G= GRCh37
NC_000002.10:g.179119681G= NCBI36
NG_011618.3:g.289095C= , LRG_391:g.289095C=
NG_051363.1:g.28882G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87016C= (TTN) ENSP00000343764.6:p.Leu29006=
ENST00000342175.11:c.68101C= (TTN) ENSP00000340554.6:p.Leu22701=
ENST00000359218.10:c.67900C= (TTN) ENSP00000352154.5:p.Leu22634=
ENST00000342175.10:c.68101C= (TTN) ENSP00000340554.6:p.Leu22701=
ENST00000342992.10:c.87016C= (TTN) ENSP00000343764.6:p.Leu29006=
ENST00000359218.9:c.67900C= (TTN) ENSP00000352154.5:p.Leu22634=
ENST00000460472.6:c.67525C= (TTN) ENSP00000434586.1:p.Leu22509=
ENST00000589042.5:c.94720C= (TTN) MANE Select ENSP00000467141.1:p.Leu31574=
ENST00000591111.5:c.89797C= (TTN) ENSP00000465570.1:p.Leu29933=
ENST00000615779.4:c.89797C= (TTN) ENSP00000483597.1:p.Leu29933=
NM_001256850.1:c.89797C= (TTN) NP_001243779.1:p.Leu29933=
NM_001267550.2:c.94720C= (TTN) MANE Select NP_001254479.2:p.Leu31574=
NM_003319.4:c.67525C= (TTN) NP_003310.4:p.Leu22509=
NM_133378.4:c.87016C= (TTN) NP_596869.4:p.Leu29006=
NM_133432.3:c.67900C= (TTN) NP_597676.3:p.Leu22634=
NM_133437.4:c.68101C= (TTN) NP_597681.4:p.Leu22701=
NR_038271.1:n.446+23072G= (TTN-AS1)
NR_038272.1:n.2043+4347G= (TTN-AS1)
XM_011511729.1:c.93817C= (TTN) XP_011510031.1:p.Leu31273=
XM_011511730.1:c.67711C= (TTN) XP_011510032.1:p.Leu22571=
XM_011511731.1:c.67570C= (TTN) XP_011510033.1:p.Leu22524=
XM_017004819.1:c.93613C= (TTN) XP_016860308.1:p.Leu31205=
XM_017004820.1:c.89011C= (TTN) XP_016860309.1:p.Leu29671=
XM_017004821.1:c.89008C= (TTN) XP_016860310.1:p.Leu29670=
XM_017004822.1:c.86050C= (TTN) XP_016860311.1:p.Leu28684=
XM_017004823.1:c.67666C= (TTN) XP_016860312.1:p.Leu22556=
XM_024453094.1:c.89161C= (TTN) XP_024308862.1:p.Leu29721=
XM_024453095.1:c.89158C= (TTN) XP_024308863.1:p.Leu29720=
XM_024453096.1:c.88591C= (TTN) XP_024308864.1:p.Leu29531=
XM_024453097.1:c.85933C= (TTN) XP_024308865.1:p.Leu28645=
XM_024453098.1:c.85852C= (TTN) XP_024308866.1:p.Leu28618=
XM_024453099.1:c.67615C= (TTN) XP_024308867.1:p.Leu22539=
XM_024453100.1:c.57469C= (TTN) XP_024308868.1:p.Leu19157=