Canonical Allele Identifier: CA349533747
Community Standard Title: NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557410C>T , CM000664.2:g.178557410C>T GRCh38
NC_000002.11:g.179422137C>T , CM000664.1:g.179422137C>T GRCh37
NC_000002.10:g.179130383C>T NCBI36
NG_011618.3:g.278393G>A , LRG_391:g.278393G>A
NG_051363.1:g.39584C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.87852G>A (TTN) MANE Select NP_001254479.2:p.Trp29284Ter
ENST00000589042.5:c.87852G>A (TTN) MANE Select ENSP00000467141.1:p.Trp29284Ter
NM_001256850.1:c.82929G>A (TTN) NP_001243779.1:p.Trp27643Ter
NM_003319.4:c.60657G>A (TTN) NP_003310.4:p.Trp20219Ter
NM_133378.4:c.80148G>A (TTN) NP_596869.4:p.Trp26716Ter
NM_133432.3:c.61032G>A (TTN) NP_597676.3:p.Trp20344Ter
NM_133437.4:c.61233G>A (TTN) NP_597681.4:p.Trp20411Ter
NR_038271.1:n.447-13890C>T (TTN-AS1)
NR_038272.1:n.2043+15049C>T (TTN-AS1)
ENST00000342175.10:c.61233G>A (TTN) ENSP00000340554.6:p.Trp20411Ter
ENST00000342175.11:c.61233G>A (TTN) ENSP00000340554.6:p.Trp20411Ter
ENST00000342992.10:c.80148G>A (TTN) ENSP00000343764.6:p.Trp26716Ter
ENST00000342992.11:c.80148G>A (TTN) ENSP00000343764.6:p.Trp26716Ter
ENST00000359218.10:c.61032G>A (TTN) ENSP00000352154.5:p.Trp20344Ter
ENST00000359218.9:c.61032G>A (TTN) ENSP00000352154.5:p.Trp20344Ter
ENST00000460472.6:c.60657G>A (TTN) ENSP00000434586.1:p.Trp20219Ter
ENST00000591111.5:c.82929G>A (TTN) ENSP00000465570.1:p.Trp27643Ter
ENST00000615779.4:c.82929G>A (TTN) ENSP00000483597.1:p.Trp27643Ter
XM_011511729.1:c.86949G>A (TTN) XP_011510031.1:p.Trp28983Ter
XM_011511730.1:c.60843G>A (TTN) XP_011510032.1:p.Trp20281Ter
XM_011511731.1:c.60702G>A (TTN) XP_011510033.1:p.Trp20234Ter
XM_017004819.1:c.86745G>A (TTN) XP_016860308.1:p.Trp28915Ter
XM_017004820.1:c.82143G>A (TTN) XP_016860309.1:p.Trp27381Ter
XM_017004821.1:c.82140G>A (TTN) XP_016860310.1:p.Trp27380Ter
XM_017004822.1:c.79182G>A (TTN) XP_016860311.1:p.Trp26394Ter
XM_017004823.1:c.60798G>A (TTN) XP_016860312.1:p.Trp20266Ter
XM_024453094.1:c.82293G>A (TTN) XP_024308862.1:p.Trp27431Ter
XM_024453095.1:c.82290G>A (TTN) XP_024308863.1:p.Trp27430Ter
XM_024453096.1:c.81723G>A (TTN) XP_024308864.1:p.Trp27241Ter
XM_024453097.1:c.79065G>A (TTN) XP_024308865.1:p.Trp26355Ter
XM_024453098.1:c.78984G>A (TTN) XP_024308866.1:p.Trp26328Ter
XM_024453099.1:c.60747G>A (TTN) XP_024308867.1:p.Trp20249Ter
XM_024453100.1:c.50601G>A (TTN) XP_024308868.1:p.Trp16867Ter