Canonical Allele Identifier: CA2753332600

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591941T>C , CM000664.2:g.178591941T>C GRCh38
NC_000002.11:g.179456668T>C , CM000664.1:g.179456668T>C GRCh37
NC_000002.10:g.179164914T>C NCBI36
NG_011618.3:g.243862A>G , LRG_391:g.243862A>G
NG_051363.1:g.74115T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.52222+37A>G (TTN) ENSP00000343764.6:n.52222+37A>G
ENST00000342175.11:c.33307+37A>G (TTN) ENSP00000340554.6:n.33307+37A>G
ENST00000359218.10:c.33106+37A>G (TTN) ENSP00000352154.5:n.33106+37A>G
ENST00000342175.10:c.33307+37A>G (TTN) ENSP00000340554.6:n.33307+37A>G
ENST00000342992.10:c.52222+37A>G (TTN) ENSP00000343764.6:n.52222+37A>G
ENST00000359218.9:c.33106+37A>G (TTN) ENSP00000352154.5:n.33106+37A>G
ENST00000460472.6:c.32731+37A>G (TTN) ENSP00000434586.1:n.32731+37A>G
ENST00000589042.5:c.59926+37A>G (TTN) MANE Select ENSP00000467141.1:n.59926+37A>G
ENST00000591111.5:c.55003+37A>G (TTN) ENSP00000465570.1:n.55003+37A>G
ENST00000615779.4:c.55003+37A>G (TTN) ENSP00000483597.1:n.55003+37A>G
NM_001256850.1:c.55003+37A>G (TTN) NP_001243779.1:n.55003+37A>G
NM_001267550.2:c.59926+37A>G (TTN) MANE Select NP_001254479.2:n.59926+37A>G
NM_003319.4:c.32731+37A>G (TTN) NP_003310.4:n.32731+37A>G
NM_133378.4:c.52222+37A>G (TTN) NP_596869.4:n.52222+37A>G
NM_133432.3:c.33106+37A>G (TTN) NP_597676.3:n.33106+37A>G
NM_133437.4:c.33307+37A>G (TTN) NP_597681.4:n.33307+37A>G
NR_038271.1:n.597-5655T>C (TTN-AS1)
NR_038272.1:n.3364+627T>C (TTN-AS1)
XM_011511729.1:c.59023+37A>G (TTN) XP_011510031.1:n.59023+37A>G
XM_011511730.1:c.32917+37A>G (TTN) XP_011510032.1:n.32917+37A>G
XM_011511731.1:c.32776+37A>G (TTN) XP_011510033.1:n.32776+37A>G
XM_017004819.1:c.58819+37A>G (TTN) XP_016860308.1:n.58819+37A>G
XM_017004820.1:c.54217+37A>G (TTN) XP_016860309.1:n.54217+37A>G
XM_017004821.1:c.54214+37A>G (TTN) XP_016860310.1:n.54214+37A>G
XM_017004822.1:c.51256+37A>G (TTN) XP_016860311.1:n.51256+37A>G
XM_017004823.1:c.32872+37A>G (TTN) XP_016860312.1:n.32872+37A>G
XM_024453094.1:c.54367+37A>G (TTN) XP_024308862.1:n.54367+37A>G
XM_024453095.1:c.54364+37A>G (TTN) XP_024308863.1:n.54364+37A>G
XM_024453096.1:c.53797+37A>G (TTN) XP_024308864.1:n.53797+37A>G
XM_024453097.1:c.51139+37A>G (TTN) XP_024308865.1:n.51139+37A>G
XM_024453098.1:c.51058+37A>G (TTN) XP_024308866.1:n.51058+37A>G
XM_024453099.1:c.32821+37A>G (TTN) XP_024308867.1:n.32821+37A>G
XM_024453100.1:c.22675+37A>G (TTN) XP_024308868.1:n.22675+37A>G