Canonical Allele Identifier: CA60984033
Community Standard Title: NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178610090G>A , CM000664.2:g.178610090G>A GRCh38
NC_000002.11:g.179474817G>A , CM000664.1:g.179474817G>A GRCh37
NC_000002.10:g.179183062G>A NCBI36
NG_011618.3:g.225713C>T , LRG_391:g.225713C>T
NG_051363.1:g.92264G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51436C>T (TTN) MANE Select NP_001254479.2:p.Gln17146Ter
ENST00000589042.5:c.51436C>T (TTN) MANE Select ENSP00000467141.1:p.Gln17146Ter
NM_001256850.1:c.46513C>T (TTN) NP_001243779.1:p.Gln15505Ter
NM_003319.4:c.24241C>T (TTN) NP_003310.4:p.Gln8081Ter
NM_133378.4:c.43732C>T (TTN) NP_596869.4:p.Gln14578Ter
NM_133432.3:c.24616C>T (TTN) NP_597676.3:p.Gln8206Ter
NM_133437.4:c.24817C>T (TTN) NP_597681.4:p.Gln8273Ter
NR_038271.1:n.782+1824G>A (TTN-AS1)
ENST00000342175.10:c.24817C>T (TTN) ENSP00000340554.6:p.Gln8273Ter
ENST00000342175.11:c.24817C>T (TTN) ENSP00000340554.6:p.Gln8273Ter
ENST00000342992.10:c.43732C>T (TTN) ENSP00000343764.6:p.Gln14578Ter
ENST00000342992.11:c.43732C>T (TTN) ENSP00000343764.6:p.Gln14578Ter
ENST00000359218.10:c.24616C>T (TTN) ENSP00000352154.5:p.Gln8206Ter
ENST00000359218.9:c.24616C>T (TTN) ENSP00000352154.5:p.Gln8206Ter
ENST00000460472.6:c.24241C>T (TTN) ENSP00000434586.1:p.Gln8081Ter
ENST00000591111.5:c.46513C>T (TTN) ENSP00000465570.1:p.Gln15505Ter
ENST00000615779.4:c.46513C>T (TTN) ENSP00000483597.1:p.Gln15505Ter
XM_011511729.1:c.50533C>T (TTN) XP_011510031.1:p.Gln16845Ter
XM_011511730.1:c.24427C>T (TTN) XP_011510032.1:p.Gln8143Ter
XM_011511731.1:c.24286C>T (TTN) XP_011510033.1:p.Gln8096Ter
XM_017004819.1:c.50329C>T (TTN) XP_016860308.1:p.Gln16777Ter
XM_017004820.1:c.45727C>T (TTN) XP_016860309.1:p.Gln15243Ter
XM_017004821.1:c.45724C>T (TTN) XP_016860310.1:p.Gln15242Ter
XM_017004822.1:c.42766C>T (TTN) XP_016860311.1:p.Gln14256Ter
XM_017004823.1:c.24382C>T (TTN) XP_016860312.1:p.Gln8128Ter
XM_024453094.1:c.45877C>T (TTN) XP_024308862.1:p.Gln15293Ter
XM_024453095.1:c.45874C>T (TTN) XP_024308863.1:p.Gln15292Ter
XM_024453096.1:c.45307C>T (TTN) XP_024308864.1:p.Gln15103Ter
XM_024453097.1:c.42649C>T (TTN) XP_024308865.1:p.Gln14217Ter
XM_024453098.1:c.42568C>T (TTN) XP_024308866.1:p.Gln14190Ter
XM_024453099.1:c.24331C>T (TTN) XP_024308867.1:p.Gln8111Ter
XM_024453100.1:c.14185C>T (TTN) XP_024308868.1:p.Gln4729Ter