Canonical Allele Identifier: CA1310520589

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543258G= , CM000664.2:g.178543258G= GRCh38
NC_000002.11:g.179407985G= , CM000664.1:g.179407985G= GRCh37
NC_000002.10:g.179116231G= NCBI36
NG_011618.3:g.292545C= , LRG_391:g.292545C=
NG_051363.1:g.25432G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.89011C= (TTN) ENSP00000343764.6:p.Leu29671=
ENST00000342175.11:c.70096C= (TTN) ENSP00000340554.6:p.Leu23366=
ENST00000359218.10:c.69895C= (TTN) ENSP00000352154.5:p.Leu23299=
ENST00000342175.10:c.70096C= (TTN) ENSP00000340554.6:p.Leu23366=
ENST00000342992.10:c.89011C= (TTN) ENSP00000343764.6:p.Leu29671=
ENST00000359218.9:c.69895C= (TTN) ENSP00000352154.5:p.Leu23299=
ENST00000460472.6:c.69520C= (TTN) ENSP00000434586.1:p.Leu23174=
ENST00000589042.5:c.96715C= (TTN) MANE Select ENSP00000467141.1:p.Leu32239=
ENST00000591111.5:c.91792C= (TTN) ENSP00000465570.1:p.Leu30598=
ENST00000615779.4:c.91792C= (TTN) ENSP00000483597.1:p.Leu30598=
NM_001256850.1:c.91792C= (TTN) NP_001243779.1:p.Leu30598=
NM_001267550.2:c.96715C= (TTN) MANE Select NP_001254479.2:p.Leu32239=
NM_003319.4:c.69520C= (TTN) NP_003310.4:p.Leu23174=
NM_133378.4:c.89011C= (TTN) NP_596869.4:p.Leu29671=
NM_133432.3:c.69895C= (TTN) NP_597676.3:p.Leu23299=
NM_133437.4:c.70096C= (TTN) NP_597681.4:p.Leu23366=
NR_038271.1:n.446+19622G= (TTN-AS1)
NR_038272.1:n.2043+897G= (TTN-AS1)
XM_011511729.1:c.95812C= (TTN) XP_011510031.1:p.Leu31938=
XM_011511730.1:c.69706C= (TTN) XP_011510032.1:p.Leu23236=
XM_011511731.1:c.69565C= (TTN) XP_011510033.1:p.Leu23189=
XM_017004819.1:c.95608C= (TTN) XP_016860308.1:p.Leu31870=
XM_017004820.1:c.91006C= (TTN) XP_016860309.1:p.Leu30336=
XM_017004821.1:c.91003C= (TTN) XP_016860310.1:p.Leu30335=
XM_017004822.1:c.88045C= (TTN) XP_016860311.1:p.Leu29349=
XM_017004823.1:c.69661C= (TTN) XP_016860312.1:p.Leu23221=
XM_024453094.1:c.91156C= (TTN) XP_024308862.1:p.Leu30386=
XM_024453095.1:c.91153C= (TTN) XP_024308863.1:p.Leu30385=
XM_024453096.1:c.90586C= (TTN) XP_024308864.1:p.Leu30196=
XM_024453097.1:c.87928C= (TTN) XP_024308865.1:p.Leu29310=
XM_024453098.1:c.87847C= (TTN) XP_024308866.1:p.Leu29283=
XM_024453099.1:c.69610C= (TTN) XP_024308867.1:p.Leu23204=
XM_024453100.1:c.59464C= (TTN) XP_024308868.1:p.Leu19822=