Canonical Allele Identifier: CA1310537708

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586714G= , CM000664.2:g.178586714G= GRCh38
NC_000002.11:g.179451441G= , CM000664.1:g.179451441G= GRCh37
NC_000002.10:g.179159687G= NCBI36
NG_011618.3:g.249089C= , LRG_391:g.249089C=
NG_051363.1:g.68888G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.56483C= (TTN) ENSP00000343764.6:p.Ala18828=
ENST00000342175.11:c.37568C= (TTN) ENSP00000340554.6:p.Ala12523=
ENST00000359218.10:c.37367C= (TTN) ENSP00000352154.5:p.Ala12456=
ENST00000342175.10:c.37568C= (TTN) ENSP00000340554.6:p.Ala12523=
ENST00000342992.10:c.56483C= (TTN) ENSP00000343764.6:p.Ala18828=
ENST00000359218.9:c.37367C= (TTN) ENSP00000352154.5:p.Ala12456=
ENST00000460472.6:c.36992C= (TTN) ENSP00000434586.1:p.Ala12331=
ENST00000589042.5:c.64187C= (TTN) MANE Select ENSP00000467141.1:p.Ala21396=
ENST00000591111.5:c.59264C= (TTN) ENSP00000465570.1:p.Ala19755=
ENST00000615779.4:c.59264C= (TTN) ENSP00000483597.1:p.Ala19755=
NM_001256850.1:c.59264C= (TTN) NP_001243779.1:p.Ala19755=
NM_001267550.2:c.64187C= (TTN) MANE Select NP_001254479.2:p.Ala21396=
NM_003319.4:c.36992C= (TTN) NP_003310.4:p.Ala12331=
NM_133378.4:c.56483C= (TTN) NP_596869.4:p.Ala18828=
NM_133432.3:c.37367C= (TTN) NP_597676.3:p.Ala12456=
NM_133437.4:c.37568C= (TTN) NP_597681.4:p.Ala12523=
NR_038271.1:n.597-10882G= (TTN-AS1)
NR_038272.1:n.3188+1721G= (TTN-AS1)
XM_011511729.1:c.63284C= (TTN) XP_011510031.1:p.Ala21095=
XM_011511730.1:c.37178C= (TTN) XP_011510032.1:p.Ala12393=
XM_011511731.1:c.37037C= (TTN) XP_011510033.1:p.Ala12346=
XM_017004819.1:c.63080C= (TTN) XP_016860308.1:p.Ala21027=
XM_017004820.1:c.58478C= (TTN) XP_016860309.1:p.Ala19493=
XM_017004821.1:c.58475C= (TTN) XP_016860310.1:p.Ala19492=
XM_017004822.1:c.55517C= (TTN) XP_016860311.1:p.Ala18506=
XM_017004823.1:c.37133C= (TTN) XP_016860312.1:p.Ala12378=
XM_024453094.1:c.58628C= (TTN) XP_024308862.1:p.Ala19543=
XM_024453095.1:c.58625C= (TTN) XP_024308863.1:p.Ala19542=
XM_024453096.1:c.58058C= (TTN) XP_024308864.1:p.Ala19353=
XM_024453097.1:c.55400C= (TTN) XP_024308865.1:p.Ala18467=
XM_024453098.1:c.55319C= (TTN) XP_024308866.1:p.Ala18440=
XM_024453099.1:c.37082C= (TTN) XP_024308867.1:p.Ala12361=
XM_024453100.1:c.26936C= (TTN) XP_024308868.1:p.Ala8979=