Canonical Allele Identifier: CA1310520634

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543312G= , CM000664.2:g.178543312G= GRCh38
NC_000002.11:g.179408039G= , CM000664.1:g.179408039G= GRCh37
NC_000002.10:g.179116285G= NCBI36
NG_011618.3:g.292491C= , LRG_391:g.292491C=
NG_051363.1:g.25486G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88957C= (TTN) ENSP00000343764.6:p.Leu29653=
ENST00000342175.11:c.70042C= (TTN) ENSP00000340554.6:p.Leu23348=
ENST00000359218.10:c.69841C= (TTN) ENSP00000352154.5:p.Leu23281=
ENST00000342175.10:c.70042C= (TTN) ENSP00000340554.6:p.Leu23348=
ENST00000342992.10:c.88957C= (TTN) ENSP00000343764.6:p.Leu29653=
ENST00000359218.9:c.69841C= (TTN) ENSP00000352154.5:p.Leu23281=
ENST00000460472.6:c.69466C= (TTN) ENSP00000434586.1:p.Leu23156=
ENST00000589042.5:c.96661C= (TTN) MANE Select ENSP00000467141.1:p.Leu32221=
ENST00000591111.5:c.91738C= (TTN) ENSP00000465570.1:p.Leu30580=
ENST00000615779.4:c.91738C= (TTN) ENSP00000483597.1:p.Leu30580=
NM_001256850.1:c.91738C= (TTN) NP_001243779.1:p.Leu30580=
NM_001267550.2:c.96661C= (TTN) MANE Select NP_001254479.2:p.Leu32221=
NM_003319.4:c.69466C= (TTN) NP_003310.4:p.Leu23156=
NM_133378.4:c.88957C= (TTN) NP_596869.4:p.Leu29653=
NM_133432.3:c.69841C= (TTN) NP_597676.3:p.Leu23281=
NM_133437.4:c.70042C= (TTN) NP_597681.4:p.Leu23348=
NR_038271.1:n.446+19676G= (TTN-AS1)
NR_038272.1:n.2043+951G= (TTN-AS1)
XM_011511729.1:c.95758C= (TTN) XP_011510031.1:p.Leu31920=
XM_011511730.1:c.69652C= (TTN) XP_011510032.1:p.Leu23218=
XM_011511731.1:c.69511C= (TTN) XP_011510033.1:p.Leu23171=
XM_017004819.1:c.95554C= (TTN) XP_016860308.1:p.Leu31852=
XM_017004820.1:c.90952C= (TTN) XP_016860309.1:p.Leu30318=
XM_017004821.1:c.90949C= (TTN) XP_016860310.1:p.Leu30317=
XM_017004822.1:c.87991C= (TTN) XP_016860311.1:p.Leu29331=
XM_017004823.1:c.69607C= (TTN) XP_016860312.1:p.Leu23203=
XM_024453094.1:c.91102C= (TTN) XP_024308862.1:p.Leu30368=
XM_024453095.1:c.91099C= (TTN) XP_024308863.1:p.Leu30367=
XM_024453096.1:c.90532C= (TTN) XP_024308864.1:p.Leu30178=
XM_024453097.1:c.87874C= (TTN) XP_024308865.1:p.Leu29292=
XM_024453098.1:c.87793C= (TTN) XP_024308866.1:p.Leu29265=
XM_024453099.1:c.69556C= (TTN) XP_024308867.1:p.Leu23186=
XM_024453100.1:c.59410C= (TTN) XP_024308868.1:p.Leu19804=