Canonical Allele Identifier: CA349582537

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609686A>C , CM000664.2:g.178609686A>C GRCh38
NC_000002.11:g.179474413A>C , CM000664.1:g.179474413A>C GRCh37
NC_000002.10:g.179182658A>C NCBI36
NG_011618.3:g.226117T>G , LRG_391:g.226117T>G
NG_051363.1:g.91860A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44033T>G (TTN) ENSP00000343764.6:p.Ile14678Ser
ENST00000342175.11:c.25118T>G (TTN) ENSP00000340554.6:p.Ile8373Ser
ENST00000359218.10:c.24917T>G (TTN) ENSP00000352154.5:p.Ile8306Ser
ENST00000342175.10:c.25118T>G (TTN) ENSP00000340554.6:p.Ile8373Ser
ENST00000342992.10:c.44033T>G (TTN) ENSP00000343764.6:p.Ile14678Ser
ENST00000359218.9:c.24917T>G (TTN) ENSP00000352154.5:p.Ile8306Ser
ENST00000460472.6:c.24542T>G (TTN) ENSP00000434586.1:p.Ile8181Ser
ENST00000589042.5:c.51737T>G (TTN) MANE Select ENSP00000467141.1:p.Ile17246Ser
ENST00000591111.5:c.46814T>G (TTN) ENSP00000465570.1:p.Ile15605Ser
ENST00000615779.4:c.46814T>G (TTN) ENSP00000483597.1:p.Ile15605Ser
NM_001256850.1:c.46814T>G (TTN) NP_001243779.1:p.Ile15605Ser
NM_001267550.2:c.51737T>G (TTN) MANE Select NP_001254479.2:p.Ile17246Ser
NM_003319.4:c.24542T>G (TTN) NP_003310.4:p.Ile8181Ser
NM_133378.4:c.44033T>G (TTN) NP_596869.4:p.Ile14678Ser
NM_133432.3:c.24917T>G (TTN) NP_597676.3:p.Ile8306Ser
NM_133437.4:c.25118T>G (TTN) NP_597681.4:p.Ile8373Ser
NR_038271.1:n.782+1420A>C (TTN-AS1)
XM_011511729.1:c.50834T>G (TTN) XP_011510031.1:p.Ile16945Ser
XM_011511730.1:c.24728T>G (TTN) XP_011510032.1:p.Ile8243Ser
XM_011511731.1:c.24587T>G (TTN) XP_011510033.1:p.Ile8196Ser
XM_017004819.1:c.50630T>G (TTN) XP_016860308.1:p.Ile16877Ser
XM_017004820.1:c.46028T>G (TTN) XP_016860309.1:p.Ile15343Ser
XM_017004821.1:c.46025T>G (TTN) XP_016860310.1:p.Ile15342Ser
XM_017004822.1:c.43067T>G (TTN) XP_016860311.1:p.Ile14356Ser
XM_017004823.1:c.24683T>G (TTN) XP_016860312.1:p.Ile8228Ser
XM_024453094.1:c.46178T>G (TTN) XP_024308862.1:p.Ile15393Ser
XM_024453095.1:c.46175T>G (TTN) XP_024308863.1:p.Ile15392Ser
XM_024453096.1:c.45608T>G (TTN) XP_024308864.1:p.Ile15203Ser
XM_024453097.1:c.42950T>G (TTN) XP_024308865.1:p.Ile14317Ser
XM_024453098.1:c.42869T>G (TTN) XP_024308866.1:p.Ile14290Ser
XM_024453099.1:c.24632T>G (TTN) XP_024308867.1:p.Ile8211Ser
XM_024453100.1:c.14486T>G (TTN) XP_024308868.1:p.Ile4829Ser