Canonical Allele Identifier: CA349436064

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584675G>T , CM000664.2:g.178584675G>T GRCh38
NC_000002.11:g.179449402G>T , CM000664.1:g.179449402G>T GRCh37
NC_000002.10:g.179157648G>T NCBI36
NG_011618.3:g.251128C>A , LRG_391:g.251128C>A
NG_051363.1:g.66849G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57262C>A (TTN) ENSP00000343764.6:p.Pro19088Thr
ENST00000342175.11:c.38347C>A (TTN) ENSP00000340554.6:p.Pro12783Thr
ENST00000359218.10:c.38146C>A (TTN) ENSP00000352154.5:p.Pro12716Thr
ENST00000342175.10:c.38347C>A (TTN) ENSP00000340554.6:p.Pro12783Thr
ENST00000342992.10:c.57262C>A (TTN) ENSP00000343764.6:p.Pro19088Thr
ENST00000359218.9:c.38146C>A (TTN) ENSP00000352154.5:p.Pro12716Thr
ENST00000460472.6:c.37771C>A (TTN) ENSP00000434586.1:p.Pro12591Thr
ENST00000589042.5:c.64966C>A (TTN) MANE Select ENSP00000467141.1:p.Pro21656Thr
ENST00000591111.5:c.60043C>A (TTN) ENSP00000465570.1:p.Pro20015Thr
ENST00000615779.4:c.60043C>A (TTN) ENSP00000483597.1:p.Pro20015Thr
NM_001256850.1:c.60043C>A (TTN) NP_001243779.1:p.Pro20015Thr
NM_001267550.2:c.64966C>A (TTN) MANE Select NP_001254479.2:p.Pro21656Thr
NM_003319.4:c.37771C>A (TTN) NP_003310.4:p.Pro12591Thr
NM_133378.4:c.57262C>A (TTN) NP_596869.4:p.Pro19088Thr
NM_133432.3:c.38146C>A (TTN) NP_597676.3:p.Pro12716Thr
NM_133437.4:c.38347C>A (TTN) NP_597681.4:p.Pro12783Thr
NR_038271.1:n.597-12921G>T (TTN-AS1)
NR_038272.1:n.2870G>T (TTN-AS1)
XM_011511729.1:c.64063C>A (TTN) XP_011510031.1:p.Pro21355Thr
XM_011511730.1:c.37957C>A (TTN) XP_011510032.1:p.Pro12653Thr
XM_011511731.1:c.37816C>A (TTN) XP_011510033.1:p.Pro12606Thr
XM_017004819.1:c.63859C>A (TTN) XP_016860308.1:p.Pro21287Thr
XM_017004820.1:c.59257C>A (TTN) XP_016860309.1:p.Pro19753Thr
XM_017004821.1:c.59254C>A (TTN) XP_016860310.1:p.Pro19752Thr
XM_017004822.1:c.56296C>A (TTN) XP_016860311.1:p.Pro18766Thr
XM_017004823.1:c.37912C>A (TTN) XP_016860312.1:p.Pro12638Thr
XM_024453094.1:c.59407C>A (TTN) XP_024308862.1:p.Pro19803Thr
XM_024453095.1:c.59404C>A (TTN) XP_024308863.1:p.Pro19802Thr
XM_024453096.1:c.58837C>A (TTN) XP_024308864.1:p.Pro19613Thr
XM_024453097.1:c.56179C>A (TTN) XP_024308865.1:p.Pro18727Thr
XM_024453098.1:c.56098C>A (TTN) XP_024308866.1:p.Pro18700Thr
XM_024453099.1:c.37861C>A (TTN) XP_024308867.1:p.Pro12621Thr
XM_024453100.1:c.27715C>A (TTN) XP_024308868.1:p.Pro9239Thr