Canonical Allele Identifier: CA1310549452

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614646T= , CM000664.2:g.178614646T= GRCh38
NC_000002.11:g.179479373T= , CM000664.1:g.179479373T= GRCh37
NC_000002.10:g.179187618T= NCBI36
NG_011618.3:g.221157A= , LRG_391:g.221157A=
NG_051363.1:g.96820T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41164A= (TTN) ENSP00000343764.6:p.Ile13722=
ENST00000342175.11:c.22249A= (TTN) ENSP00000340554.6:p.Ile7417=
ENST00000359218.10:c.22048A= (TTN) ENSP00000352154.5:p.Ile7350=
ENST00000342175.10:c.22249A= (TTN) ENSP00000340554.6:p.Ile7417=
ENST00000342992.10:c.41164A= (TTN) ENSP00000343764.6:p.Ile13722=
ENST00000359218.9:c.22048A= (TTN) ENSP00000352154.5:p.Ile7350=
ENST00000460472.6:c.21673A= (TTN) ENSP00000434586.1:p.Ile7225=
ENST00000589042.5:c.48868A= (TTN) MANE Select ENSP00000467141.1:p.Ile16290=
ENST00000591111.5:c.43945A= (TTN) ENSP00000465570.1:p.Ile14649=
ENST00000615779.4:c.43945A= (TTN) ENSP00000483597.1:p.Ile14649=
NM_001256850.1:c.43945A= (TTN) NP_001243779.1:p.Ile14649=
NM_001267550.2:c.48868A= (TTN) MANE Select NP_001254479.2:p.Ile16290=
NM_003319.4:c.21673A= (TTN) NP_003310.4:p.Ile7225=
NM_133378.4:c.41164A= (TTN) NP_596869.4:p.Ile13722=
NM_133432.3:c.22048A= (TTN) NP_597676.3:p.Ile7350=
NM_133437.4:c.22249A= (TTN) NP_597681.4:p.Ile7417=
NR_038271.1:n.1394T= (TTN-AS1)
XM_011511729.1:c.47965A= (TTN) XP_011510031.1:p.Ile15989=
XM_011511730.1:c.21859A= (TTN) XP_011510032.1:p.Ile7287=
XM_011511731.1:c.21718A= (TTN) XP_011510033.1:p.Ile7240=
XM_017004819.1:c.47761A= (TTN) XP_016860308.1:p.Ile15921=
XM_017004820.1:c.43159A= (TTN) XP_016860309.1:p.Ile14387=
XM_017004821.1:c.43156A= (TTN) XP_016860310.1:p.Ile14386=
XM_017004822.1:c.40198A= (TTN) XP_016860311.1:p.Ile13400=
XM_017004823.1:c.21814A= (TTN) XP_016860312.1:p.Ile7272=
XM_024453094.1:c.43309A= (TTN) XP_024308862.1:p.Ile14437=
XM_024453095.1:c.43306A= (TTN) XP_024308863.1:p.Ile14436=
XM_024453096.1:c.42739A= (TTN) XP_024308864.1:p.Ile14247=
XM_024453097.1:c.40081A= (TTN) XP_024308865.1:p.Ile13361=
XM_024453098.1:c.40000A= (TTN) XP_024308866.1:p.Ile13334=
XM_024453099.1:c.21763A= (TTN) XP_024308867.1:p.Ile7255=
XM_024453100.1:c.11617A= (TTN) XP_024308868.1:p.Ile3873=