Canonical Allele Identifier: CA349582542

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609687T>C , CM000664.2:g.178609687T>C GRCh38
NC_000002.11:g.179474414T>C , CM000664.1:g.179474414T>C GRCh37
NC_000002.10:g.179182659T>C NCBI36
NG_011618.3:g.226116A>G , LRG_391:g.226116A>G
NG_051363.1:g.91861T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.44032A>G (TTN) ENSP00000343764.6:p.Ile14678Val
ENST00000342175.11:c.25117A>G (TTN) ENSP00000340554.6:p.Ile8373Val
ENST00000359218.10:c.24916A>G (TTN) ENSP00000352154.5:p.Ile8306Val
ENST00000342175.10:c.25117A>G (TTN) ENSP00000340554.6:p.Ile8373Val
ENST00000342992.10:c.44032A>G (TTN) ENSP00000343764.6:p.Ile14678Val
ENST00000359218.9:c.24916A>G (TTN) ENSP00000352154.5:p.Ile8306Val
ENST00000460472.6:c.24541A>G (TTN) ENSP00000434586.1:p.Ile8181Val
ENST00000589042.5:c.51736A>G (TTN) MANE Select ENSP00000467141.1:p.Ile17246Val
ENST00000591111.5:c.46813A>G (TTN) ENSP00000465570.1:p.Ile15605Val
ENST00000615779.4:c.46813A>G (TTN) ENSP00000483597.1:p.Ile15605Val
NM_001256850.1:c.46813A>G (TTN) NP_001243779.1:p.Ile15605Val
NM_001267550.2:c.51736A>G (TTN) MANE Select NP_001254479.2:p.Ile17246Val
NM_003319.4:c.24541A>G (TTN) NP_003310.4:p.Ile8181Val
NM_133378.4:c.44032A>G (TTN) NP_596869.4:p.Ile14678Val
NM_133432.3:c.24916A>G (TTN) NP_597676.3:p.Ile8306Val
NM_133437.4:c.25117A>G (TTN) NP_597681.4:p.Ile8373Val
NR_038271.1:n.782+1421T>C (TTN-AS1)
XM_011511729.1:c.50833A>G (TTN) XP_011510031.1:p.Ile16945Val
XM_011511730.1:c.24727A>G (TTN) XP_011510032.1:p.Ile8243Val
XM_011511731.1:c.24586A>G (TTN) XP_011510033.1:p.Ile8196Val
XM_017004819.1:c.50629A>G (TTN) XP_016860308.1:p.Ile16877Val
XM_017004820.1:c.46027A>G (TTN) XP_016860309.1:p.Ile15343Val
XM_017004821.1:c.46024A>G (TTN) XP_016860310.1:p.Ile15342Val
XM_017004822.1:c.43066A>G (TTN) XP_016860311.1:p.Ile14356Val
XM_017004823.1:c.24682A>G (TTN) XP_016860312.1:p.Ile8228Val
XM_024453094.1:c.46177A>G (TTN) XP_024308862.1:p.Ile15393Val
XM_024453095.1:c.46174A>G (TTN) XP_024308863.1:p.Ile15392Val
XM_024453096.1:c.45607A>G (TTN) XP_024308864.1:p.Ile15203Val
XM_024453097.1:c.42949A>G (TTN) XP_024308865.1:p.Ile14317Val
XM_024453098.1:c.42868A>G (TTN) XP_024308866.1:p.Ile14290Val
XM_024453099.1:c.24631A>G (TTN) XP_024308867.1:p.Ile8211Val
XM_024453100.1:c.14485A>G (TTN) XP_024308868.1:p.Ile4829Val