Canonical Allele Identifier: CA430246820
Community Standard Title: NM_001267550.2(TTN):c.88329T>A (p.Pro29443=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178555130A>T , CM000664.2:g.178555130A>T GRCh38
NC_000002.11:g.179419857A>T , CM000664.1:g.179419857A>T GRCh37
NC_000002.10:g.179128103A>T NCBI36
NG_011618.3:g.280673T>A , LRG_391:g.280673T>A
NG_051363.1:g.37304A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.88329T>A (TTN) MANE Select NP_001254479.2:p.Pro29443=
ENST00000589042.5:c.88329T>A (TTN) MANE Select ENSP00000467141.1:p.Pro29443=
NM_001256850.1:c.83406T>A (TTN) NP_001243779.1:p.Pro27802=
NM_003319.4:c.61134T>A (TTN) NP_003310.4:p.Pro20378=
NM_133378.4:c.80625T>A (TTN) NP_596869.4:p.Pro26875=
NM_133432.3:c.61509T>A (TTN) NP_597676.3:p.Pro20503=
NM_133437.4:c.61710T>A (TTN) NP_597681.4:p.Pro20570=
NR_038271.1:n.447-16170A>T (TTN-AS1)
NR_038272.1:n.2043+12769A>T (TTN-AS1)
ENST00000342175.10:c.61710T>A (TTN) ENSP00000340554.6:p.Pro20570=
ENST00000342175.11:c.61710T>A (TTN) ENSP00000340554.6:p.Pro20570=
ENST00000342992.10:c.80625T>A (TTN) ENSP00000343764.6:p.Pro26875=
ENST00000342992.11:c.80625T>A (TTN) ENSP00000343764.6:p.Pro26875=
ENST00000359218.10:c.61509T>A (TTN) ENSP00000352154.5:p.Pro20503=
ENST00000359218.9:c.61509T>A (TTN) ENSP00000352154.5:p.Pro20503=
ENST00000460472.6:c.61134T>A (TTN) ENSP00000434586.1:p.Pro20378=
ENST00000591111.5:c.83406T>A (TTN) ENSP00000465570.1:p.Pro27802=
ENST00000615779.4:c.83406T>A (TTN) ENSP00000483597.1:p.Pro27802=
XM_011511729.1:c.87426T>A (TTN) XP_011510031.1:p.Pro29142=
XM_011511730.1:c.61320T>A (TTN) XP_011510032.1:p.Pro20440=
XM_011511731.1:c.61179T>A (TTN) XP_011510033.1:p.Pro20393=
XM_017004819.1:c.87222T>A (TTN) XP_016860308.1:p.Pro29074=
XM_017004820.1:c.82620T>A (TTN) XP_016860309.1:p.Pro27540=
XM_017004821.1:c.82617T>A (TTN) XP_016860310.1:p.Pro27539=
XM_017004822.1:c.79659T>A (TTN) XP_016860311.1:p.Pro26553=
XM_017004823.1:c.61275T>A (TTN) XP_016860312.1:p.Pro20425=
XM_024453094.1:c.82770T>A (TTN) XP_024308862.1:p.Pro27590=
XM_024453095.1:c.82767T>A (TTN) XP_024308863.1:p.Pro27589=
XM_024453096.1:c.82200T>A (TTN) XP_024308864.1:p.Pro27400=
XM_024453097.1:c.79542T>A (TTN) XP_024308865.1:p.Pro26514=
XM_024453098.1:c.79461T>A (TTN) XP_024308866.1:p.Pro26487=
XM_024453099.1:c.61224T>A (TTN) XP_024308867.1:p.Pro20408=
XM_024453100.1:c.51078T>A (TTN) XP_024308868.1:p.Pro17026=