Canonical Allele Identifier: CA349478926

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547637C>A , CM000664.2:g.178547637C>A GRCh38
NC_000002.11:g.179412364C>A , CM000664.1:g.179412364C>A GRCh37
NC_000002.10:g.179120610C>A NCBI36
NG_011618.3:g.288166G>T , LRG_391:g.288166G>T
NG_051363.1:g.29811C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86285G>T (TTN) ENSP00000343764.6:p.Trp28762Leu
ENST00000342175.11:c.67370G>T (TTN) ENSP00000340554.6:p.Trp22457Leu
ENST00000359218.10:c.67169G>T (TTN) ENSP00000352154.5:p.Trp22390Leu
ENST00000342175.10:c.67370G>T (TTN) ENSP00000340554.6:p.Trp22457Leu
ENST00000342992.10:c.86285G>T (TTN) ENSP00000343764.6:p.Trp28762Leu
ENST00000359218.9:c.67169G>T (TTN) ENSP00000352154.5:p.Trp22390Leu
ENST00000460472.6:c.66794G>T (TTN) ENSP00000434586.1:p.Trp22265Leu
ENST00000589042.5:c.93989G>T (TTN) MANE Select ENSP00000467141.1:p.Trp31330Leu
ENST00000591111.5:c.89066G>T (TTN) ENSP00000465570.1:p.Trp29689Leu
ENST00000615779.4:c.89066G>T (TTN) ENSP00000483597.1:p.Trp29689Leu
NM_001256850.1:c.89066G>T (TTN) NP_001243779.1:p.Trp29689Leu
NM_001267550.2:c.93989G>T (TTN) MANE Select NP_001254479.2:p.Trp31330Leu
NM_003319.4:c.66794G>T (TTN) NP_003310.4:p.Trp22265Leu
NM_133378.4:c.86285G>T (TTN) NP_596869.4:p.Trp28762Leu
NM_133432.3:c.67169G>T (TTN) NP_597676.3:p.Trp22390Leu
NM_133437.4:c.67370G>T (TTN) NP_597681.4:p.Trp22457Leu
NR_038271.1:n.447-23663C>A (TTN-AS1)
NR_038272.1:n.2043+5276C>A (TTN-AS1)
XM_011511729.1:c.93086G>T (TTN) XP_011510031.1:p.Trp31029Leu
XM_011511730.1:c.66980G>T (TTN) XP_011510032.1:p.Trp22327Leu
XM_011511731.1:c.66839G>T (TTN) XP_011510033.1:p.Trp22280Leu
XM_017004819.1:c.92882G>T (TTN) XP_016860308.1:p.Trp30961Leu
XM_017004820.1:c.88280G>T (TTN) XP_016860309.1:p.Trp29427Leu
XM_017004821.1:c.88277G>T (TTN) XP_016860310.1:p.Trp29426Leu
XM_017004822.1:c.85319G>T (TTN) XP_016860311.1:p.Trp28440Leu
XM_017004823.1:c.66935G>T (TTN) XP_016860312.1:p.Trp22312Leu
XM_024453094.1:c.88430G>T (TTN) XP_024308862.1:p.Trp29477Leu
XM_024453095.1:c.88427G>T (TTN) XP_024308863.1:p.Trp29476Leu
XM_024453096.1:c.87860G>T (TTN) XP_024308864.1:p.Trp29287Leu
XM_024453097.1:c.85202G>T (TTN) XP_024308865.1:p.Trp28401Leu
XM_024453098.1:c.85121G>T (TTN) XP_024308866.1:p.Trp28374Leu
XM_024453099.1:c.66884G>T (TTN) XP_024308867.1:p.Trp22295Leu
XM_024453100.1:c.56738G>T (TTN) XP_024308868.1:p.Trp18913Leu