Canonical Allele Identifier: CA349423562

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579671G>T , CM000664.2:g.178579671G>T GRCh38
NC_000002.11:g.179444398G>T , CM000664.1:g.179444398G>T GRCh37
NC_000002.10:g.179152644G>T NCBI36
NG_011618.3:g.256132C>A , LRG_391:g.256132C>A
NG_051363.1:g.61845G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59822C>A (TTN) ENSP00000343764.6:p.Ser19941Tyr
ENST00000342175.11:c.40907C>A (TTN) ENSP00000340554.6:p.Ser13636Tyr
ENST00000359218.10:c.40706C>A (TTN) ENSP00000352154.5:p.Ser13569Tyr
ENST00000342175.10:c.40907C>A (TTN) ENSP00000340554.6:p.Ser13636Tyr
ENST00000342992.10:c.59822C>A (TTN) ENSP00000343764.6:p.Ser19941Tyr
ENST00000359218.9:c.40706C>A (TTN) ENSP00000352154.5:p.Ser13569Tyr
ENST00000460472.6:c.40331C>A (TTN) ENSP00000434586.1:p.Ser13444Tyr
ENST00000589042.5:c.67526C>A (TTN) MANE Select ENSP00000467141.1:p.Ser22509Tyr
ENST00000591111.5:c.62603C>A (TTN) ENSP00000465570.1:p.Ser20868Tyr
ENST00000615779.4:c.62603C>A (TTN) ENSP00000483597.1:p.Ser20868Tyr
NM_001256850.1:c.62603C>A (TTN) NP_001243779.1:p.Ser20868Tyr
NM_001267550.2:c.67526C>A (TTN) MANE Select NP_001254479.2:p.Ser22509Tyr
NM_003319.4:c.40331C>A (TTN) NP_003310.4:p.Ser13444Tyr
NM_133378.4:c.59822C>A (TTN) NP_596869.4:p.Ser19941Tyr
NM_133432.3:c.40706C>A (TTN) NP_597676.3:p.Ser13569Tyr
NM_133437.4:c.40907C>A (TTN) NP_597681.4:p.Ser13636Tyr
NR_038271.1:n.596+8222G>T (TTN-AS1)
NR_038272.1:n.2044-2901G>T (TTN-AS1)
XM_011511729.1:c.66623C>A (TTN) XP_011510031.1:p.Ser22208Tyr
XM_011511730.1:c.40517C>A (TTN) XP_011510032.1:p.Ser13506Tyr
XM_011511731.1:c.40376C>A (TTN) XP_011510033.1:p.Ser13459Tyr
XM_017004819.1:c.66419C>A (TTN) XP_016860308.1:p.Ser22140Tyr
XM_017004820.1:c.61817C>A (TTN) XP_016860309.1:p.Ser20606Tyr
XM_017004821.1:c.61814C>A (TTN) XP_016860310.1:p.Ser20605Tyr
XM_017004822.1:c.58856C>A (TTN) XP_016860311.1:p.Ser19619Tyr
XM_017004823.1:c.40472C>A (TTN) XP_016860312.1:p.Ser13491Tyr
XM_024453094.1:c.61967C>A (TTN) XP_024308862.1:p.Ser20656Tyr
XM_024453095.1:c.61964C>A (TTN) XP_024308863.1:p.Ser20655Tyr
XM_024453096.1:c.61397C>A (TTN) XP_024308864.1:p.Ser20466Tyr
XM_024453097.1:c.58739C>A (TTN) XP_024308865.1:p.Ser19580Tyr
XM_024453098.1:c.58658C>A (TTN) XP_024308866.1:p.Ser19553Tyr
XM_024453099.1:c.40421C>A (TTN) XP_024308867.1:p.Ser13474Tyr
XM_024453100.1:c.30275C>A (TTN) XP_024308868.1:p.Ser10092Tyr