Canonical Allele Identifier: CA1987388
Community Standard Title: NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548721G>A , CM000664.2:g.178548721G>A GRCh38
NC_000002.11:g.179413448G>A , CM000664.1:g.179413448G>A GRCh37
NC_000002.10:g.179121694G>A NCBI36
NG_011618.3:g.287082C>T , LRG_391:g.287082C>T
NG_051363.1:g.30895G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.92905C>T (TTN) MANE Select NP_001254479.2:p.Arg30969Trp
ENST00000589042.5:c.92905C>T (TTN) MANE Select ENSP00000467141.1:p.Arg30969Trp
NM_001256850.1:c.87982C>T (TTN) NP_001243779.1:p.Arg29328Trp
NM_003319.4:c.65710C>T (TTN) NP_003310.4:p.Arg21904Trp
NM_133378.4:c.85201C>T (TTN) NP_596869.4:p.Arg28401Trp
NM_133432.3:c.66085C>T (TTN) NP_597676.3:p.Arg22029Trp
NM_133437.4:c.66286C>T (TTN) NP_597681.4:p.Arg22096Trp
NR_038271.1:n.447-22579G>A (TTN-AS1)
NR_038272.1:n.2043+6360G>A (TTN-AS1)
ENST00000342175.10:c.66286C>T (TTN) ENSP00000340554.6:p.Arg22096Trp
ENST00000342175.11:c.66286C>T (TTN) ENSP00000340554.6:p.Arg22096Trp
ENST00000342992.10:c.85201C>T (TTN) ENSP00000343764.6:p.Arg28401Trp
ENST00000342992.11:c.85201C>T (TTN) ENSP00000343764.6:p.Arg28401Trp
ENST00000359218.10:c.66085C>T (TTN) ENSP00000352154.5:p.Arg22029Trp
ENST00000359218.9:c.66085C>T (TTN) ENSP00000352154.5:p.Arg22029Trp
ENST00000460472.6:c.65710C>T (TTN) ENSP00000434586.1:p.Arg21904Trp
ENST00000591111.5:c.87982C>T (TTN) ENSP00000465570.1:p.Arg29328Trp
ENST00000615779.4:c.87982C>T (TTN) ENSP00000483597.1:p.Arg29328Trp
XM_011511729.1:c.92002C>T (TTN) XP_011510031.1:p.Arg30668Trp
XM_011511730.1:c.65896C>T (TTN) XP_011510032.1:p.Arg21966Trp
XM_011511731.1:c.65755C>T (TTN) XP_011510033.1:p.Arg21919Trp
XM_017004819.1:c.91798C>T (TTN) XP_016860308.1:p.Arg30600Trp
XM_017004820.1:c.87196C>T (TTN) XP_016860309.1:p.Arg29066Trp
XM_017004821.1:c.87193C>T (TTN) XP_016860310.1:p.Arg29065Trp
XM_017004822.1:c.84235C>T (TTN) XP_016860311.1:p.Arg28079Trp
XM_017004823.1:c.65851C>T (TTN) XP_016860312.1:p.Arg21951Trp
XM_024453094.1:c.87346C>T (TTN) XP_024308862.1:p.Arg29116Trp
XM_024453095.1:c.87343C>T (TTN) XP_024308863.1:p.Arg29115Trp
XM_024453096.1:c.86776C>T (TTN) XP_024308864.1:p.Arg28926Trp
XM_024453097.1:c.84118C>T (TTN) XP_024308865.1:p.Arg28040Trp
XM_024453098.1:c.84037C>T (TTN) XP_024308866.1:p.Arg28013Trp
XM_024453099.1:c.65800C>T (TTN) XP_024308867.1:p.Arg21934Trp
XM_024453100.1:c.55654C>T (TTN) XP_024308868.1:p.Arg18552Trp