Canonical Allele Identifier: CA349496431

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549863G>T , CM000664.2:g.178549863G>T GRCh38
NC_000002.11:g.179414590G>T , CM000664.1:g.179414590G>T GRCh37
NC_000002.10:g.179122836G>T NCBI36
NG_011618.3:g.285940C>A , LRG_391:g.285940C>A
NG_051363.1:g.32037G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84155C>A (TTN) ENSP00000343764.6:p.Pro28052Gln
ENST00000342175.11:c.65240C>A (TTN) ENSP00000340554.6:p.Pro21747Gln
ENST00000359218.10:c.65039C>A (TTN) ENSP00000352154.5:p.Pro21680Gln
ENST00000342175.10:c.65240C>A (TTN) ENSP00000340554.6:p.Pro21747Gln
ENST00000342992.10:c.84155C>A (TTN) ENSP00000343764.6:p.Pro28052Gln
ENST00000359218.9:c.65039C>A (TTN) ENSP00000352154.5:p.Pro21680Gln
ENST00000460472.6:c.64664C>A (TTN) ENSP00000434586.1:p.Pro21555Gln
ENST00000589042.5:c.91859C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30620Gln
ENST00000591111.5:c.86936C>A (TTN) ENSP00000465570.1:p.Pro28979Gln
ENST00000615779.4:c.86936C>A (TTN) ENSP00000483597.1:p.Pro28979Gln
NM_001256850.1:c.86936C>A (TTN) NP_001243779.1:p.Pro28979Gln
NM_001267550.2:c.91859C>A (TTN) MANE Select NP_001254479.2:p.Pro30620Gln
NM_003319.4:c.64664C>A (TTN) NP_003310.4:p.Pro21555Gln
NM_133378.4:c.84155C>A (TTN) NP_596869.4:p.Pro28052Gln
NM_133432.3:c.65039C>A (TTN) NP_597676.3:p.Pro21680Gln
NM_133437.4:c.65240C>A (TTN) NP_597681.4:p.Pro21747Gln
NR_038271.1:n.447-21437G>T (TTN-AS1)
NR_038272.1:n.2043+7502G>T (TTN-AS1)
XM_011511729.1:c.90956C>A (TTN) XP_011510031.1:p.Pro30319Gln
XM_011511730.1:c.64850C>A (TTN) XP_011510032.1:p.Pro21617Gln
XM_011511731.1:c.64709C>A (TTN) XP_011510033.1:p.Pro21570Gln
XM_017004819.1:c.90752C>A (TTN) XP_016860308.1:p.Pro30251Gln
XM_017004820.1:c.86150C>A (TTN) XP_016860309.1:p.Pro28717Gln
XM_017004821.1:c.86147C>A (TTN) XP_016860310.1:p.Pro28716Gln
XM_017004822.1:c.83189C>A (TTN) XP_016860311.1:p.Pro27730Gln
XM_017004823.1:c.64805C>A (TTN) XP_016860312.1:p.Pro21602Gln
XM_024453094.1:c.86300C>A (TTN) XP_024308862.1:p.Pro28767Gln
XM_024453095.1:c.86297C>A (TTN) XP_024308863.1:p.Pro28766Gln
XM_024453096.1:c.85730C>A (TTN) XP_024308864.1:p.Pro28577Gln
XM_024453097.1:c.83072C>A (TTN) XP_024308865.1:p.Pro27691Gln
XM_024453098.1:c.82991C>A (TTN) XP_024308866.1:p.Pro27664Gln
XM_024453099.1:c.64754C>A (TTN) XP_024308867.1:p.Pro21585Gln
XM_024453100.1:c.54608C>A (TTN) XP_024308868.1:p.Pro18203Gln