Canonical Allele Identifier: CA1310549421

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614562T= , CM000664.2:g.178614562T= GRCh38
NC_000002.11:g.179479289T= , CM000664.1:g.179479289T= GRCh37
NC_000002.10:g.179187534T= NCBI36
NG_011618.3:g.221241A= , LRG_391:g.221241A=
NG_051363.1:g.96736T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41248A= (TTN) ENSP00000343764.6:p.Ile13750=
ENST00000342175.11:c.22333A= (TTN) ENSP00000340554.6:p.Ile7445=
ENST00000359218.10:c.22132A= (TTN) ENSP00000352154.5:p.Ile7378=
ENST00000342175.10:c.22333A= (TTN) ENSP00000340554.6:p.Ile7445=
ENST00000342992.10:c.41248A= (TTN) ENSP00000343764.6:p.Ile13750=
ENST00000359218.9:c.22132A= (TTN) ENSP00000352154.5:p.Ile7378=
ENST00000460472.6:c.21757A= (TTN) ENSP00000434586.1:p.Ile7253=
ENST00000589042.5:c.48952A= (TTN) MANE Select ENSP00000467141.1:p.Ile16318=
ENST00000591111.5:c.44029A= (TTN) ENSP00000465570.1:p.Ile14677=
ENST00000615779.4:c.44029A= (TTN) ENSP00000483597.1:p.Ile14677=
NM_001256850.1:c.44029A= (TTN) NP_001243779.1:p.Ile14677=
NM_001267550.2:c.48952A= (TTN) MANE Select NP_001254479.2:p.Ile16318=
NM_003319.4:c.21757A= (TTN) NP_003310.4:p.Ile7253=
NM_133378.4:c.41248A= (TTN) NP_596869.4:p.Ile13750=
NM_133432.3:c.22132A= (TTN) NP_597676.3:p.Ile7378=
NM_133437.4:c.22333A= (TTN) NP_597681.4:p.Ile7445=
NR_038271.1:n.1310T= (TTN-AS1)
XM_011511729.1:c.48049A= (TTN) XP_011510031.1:p.Ile16017=
XM_011511730.1:c.21943A= (TTN) XP_011510032.1:p.Ile7315=
XM_011511731.1:c.21802A= (TTN) XP_011510033.1:p.Ile7268=
XM_017004819.1:c.47845A= (TTN) XP_016860308.1:p.Ile15949=
XM_017004820.1:c.43243A= (TTN) XP_016860309.1:p.Ile14415=
XM_017004821.1:c.43240A= (TTN) XP_016860310.1:p.Ile14414=
XM_017004822.1:c.40282A= (TTN) XP_016860311.1:p.Ile13428=
XM_017004823.1:c.21898A= (TTN) XP_016860312.1:p.Ile7300=
XM_024453094.1:c.43393A= (TTN) XP_024308862.1:p.Ile14465=
XM_024453095.1:c.43390A= (TTN) XP_024308863.1:p.Ile14464=
XM_024453096.1:c.42823A= (TTN) XP_024308864.1:p.Ile14275=
XM_024453097.1:c.40165A= (TTN) XP_024308865.1:p.Ile13389=
XM_024453098.1:c.40084A= (TTN) XP_024308866.1:p.Ile13362=
XM_024453099.1:c.21847A= (TTN) XP_024308867.1:p.Ile7283=
XM_024453100.1:c.11701A= (TTN) XP_024308868.1:p.Ile3901=