Canonical Allele Identifier: CA349468282
Community Standard Title: NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589875G>C , CM000664.2:g.178589875G>C GRCh38
NC_000002.11:g.179454602G>C , CM000664.1:g.179454602G>C GRCh37
NC_000002.10:g.179162848G>C NCBI36
NG_011618.3:g.245928C>G , LRG_391:g.245928C>G
NG_051363.1:g.72049G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61850C>G (TTN) MANE Select NP_001254479.2:p.Ser20617Ter
ENST00000589042.5:c.61850C>G (TTN) MANE Select ENSP00000467141.1:p.Ser20617Ter
NM_001256850.1:c.56927C>G (TTN) NP_001243779.1:p.Ser18976Ter
NM_003319.4:c.34655C>G (TTN) NP_003310.4:p.Ser11552Ter
NM_133378.4:c.54146C>G (TTN) NP_596869.4:p.Ser18049Ter
NM_133432.3:c.35030C>G (TTN) NP_597676.3:p.Ser11677Ter
NM_133437.4:c.35231C>G (TTN) NP_597681.4:p.Ser11744Ter
NR_038271.1:n.597-7721G>C (TTN-AS1)
NR_038272.1:n.3189-1264G>C (TTN-AS1)
ENST00000342175.10:c.35231C>G (TTN) ENSP00000340554.6:p.Ser11744Ter
ENST00000342175.11:c.35231C>G (TTN) ENSP00000340554.6:p.Ser11744Ter
ENST00000342992.10:c.54146C>G (TTN) ENSP00000343764.6:p.Ser18049Ter
ENST00000342992.11:c.54146C>G (TTN) ENSP00000343764.6:p.Ser18049Ter
ENST00000359218.10:c.35030C>G (TTN) ENSP00000352154.5:p.Ser11677Ter
ENST00000359218.9:c.35030C>G (TTN) ENSP00000352154.5:p.Ser11677Ter
ENST00000460472.6:c.34655C>G (TTN) ENSP00000434586.1:p.Ser11552Ter
ENST00000591111.5:c.56927C>G (TTN) ENSP00000465570.1:p.Ser18976Ter
ENST00000615779.4:c.56927C>G (TTN) ENSP00000483597.1:p.Ser18976Ter
XM_011511729.1:c.60947C>G (TTN) XP_011510031.1:p.Ser20316Ter
XM_011511730.1:c.34841C>G (TTN) XP_011510032.1:p.Ser11614Ter
XM_011511731.1:c.34700C>G (TTN) XP_011510033.1:p.Ser11567Ter
XM_017004819.1:c.60743C>G (TTN) XP_016860308.1:p.Ser20248Ter
XM_017004820.1:c.56141C>G (TTN) XP_016860309.1:p.Ser18714Ter
XM_017004821.1:c.56138C>G (TTN) XP_016860310.1:p.Ser18713Ter
XM_017004822.1:c.53180C>G (TTN) XP_016860311.1:p.Ser17727Ter
XM_017004823.1:c.34796C>G (TTN) XP_016860312.1:p.Ser11599Ter
XM_024453094.1:c.56291C>G (TTN) XP_024308862.1:p.Ser18764Ter
XM_024453095.1:c.56288C>G (TTN) XP_024308863.1:p.Ser18763Ter
XM_024453096.1:c.55721C>G (TTN) XP_024308864.1:p.Ser18574Ter
XM_024453097.1:c.53063C>G (TTN) XP_024308865.1:p.Ser17688Ter
XM_024453098.1:c.52982C>G (TTN) XP_024308866.1:p.Ser17661Ter
XM_024453099.1:c.34745C>G (TTN) XP_024308867.1:p.Ser11582Ter
XM_024453100.1:c.24599C>G (TTN) XP_024308868.1:p.Ser8200Ter