Canonical Allele Identifier: CA349604299
Community Standard Title: NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613783G>T , CM000664.2:g.178613783G>T GRCh38
NC_000002.11:g.179478510G>T , CM000664.1:g.179478510G>T GRCh37
NC_000002.10:g.179186755G>T NCBI36
NG_011618.3:g.222020C>A , LRG_391:g.222020C>A
NG_051363.1:g.95957G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49500C>A (TTN) MANE Select NP_001254479.2:p.Cys16500Ter
ENST00000589042.5:c.49500C>A (TTN) MANE Select ENSP00000467141.1:p.Cys16500Ter
NM_001256850.1:c.44577C>A (TTN) NP_001243779.1:p.Cys14859Ter
NM_003319.4:c.22305C>A (TTN) NP_003310.4:p.Cys7435Ter
NM_133378.4:c.41796C>A (TTN) NP_596869.4:p.Cys13932Ter
NM_133432.3:c.22680C>A (TTN) NP_597676.3:p.Cys7560Ter
NM_133437.4:c.22881C>A (TTN) NP_597681.4:p.Cys7627Ter
NR_038271.1:n.783-252G>T (TTN-AS1)
ENST00000342175.10:c.22881C>A (TTN) ENSP00000340554.6:p.Cys7627Ter
ENST00000342175.11:c.22881C>A (TTN) ENSP00000340554.6:p.Cys7627Ter
ENST00000342992.10:c.41796C>A (TTN) ENSP00000343764.6:p.Cys13932Ter
ENST00000342992.11:c.41796C>A (TTN) ENSP00000343764.6:p.Cys13932Ter
ENST00000359218.10:c.22680C>A (TTN) ENSP00000352154.5:p.Cys7560Ter
ENST00000359218.9:c.22680C>A (TTN) ENSP00000352154.5:p.Cys7560Ter
ENST00000460472.6:c.22305C>A (TTN) ENSP00000434586.1:p.Cys7435Ter
ENST00000591111.5:c.44577C>A (TTN) ENSP00000465570.1:p.Cys14859Ter
ENST00000615779.4:c.44577C>A (TTN) ENSP00000483597.1:p.Cys14859Ter
XM_011511729.1:c.48597C>A (TTN) XP_011510031.1:p.Cys16199Ter
XM_011511730.1:c.22491C>A (TTN) XP_011510032.1:p.Cys7497Ter
XM_011511731.1:c.22350C>A (TTN) XP_011510033.1:p.Cys7450Ter
XM_017004819.1:c.48393C>A (TTN) XP_016860308.1:p.Cys16131Ter
XM_017004820.1:c.43791C>A (TTN) XP_016860309.1:p.Cys14597Ter
XM_017004821.1:c.43788C>A (TTN) XP_016860310.1:p.Cys14596Ter
XM_017004822.1:c.40830C>A (TTN) XP_016860311.1:p.Cys13610Ter
XM_017004823.1:c.22446C>A (TTN) XP_016860312.1:p.Cys7482Ter
XM_024453094.1:c.43941C>A (TTN) XP_024308862.1:p.Cys14647Ter
XM_024453095.1:c.43938C>A (TTN) XP_024308863.1:p.Cys14646Ter
XM_024453096.1:c.43371C>A (TTN) XP_024308864.1:p.Cys14457Ter
XM_024453097.1:c.40713C>A (TTN) XP_024308865.1:p.Cys13571Ter
XM_024453098.1:c.40632C>A (TTN) XP_024308866.1:p.Cys13544Ter
XM_024453099.1:c.22395C>A (TTN) XP_024308867.1:p.Cys7465Ter
XM_024453100.1:c.12249C>A (TTN) XP_024308868.1:p.Cys4083Ter