Canonical Allele Identifier: CA349436063

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57262C>T (TTN) ENSP00000343764.6:p.Pro19088Ser
ENST00000342175.11:c.38347C>T (TTN) ENSP00000340554.6:p.Pro12783Ser
ENST00000359218.10:c.38146C>T (TTN) ENSP00000352154.5:p.Pro12716Ser
ENST00000342175.10:c.38347C>T (TTN) ENSP00000340554.6:p.Pro12783Ser
ENST00000342992.10:c.57262C>T (TTN) ENSP00000343764.6:p.Pro19088Ser
ENST00000359218.9:c.38146C>T (TTN) ENSP00000352154.5:p.Pro12716Ser
ENST00000460472.6:c.37771C>T (TTN) ENSP00000434586.1:p.Pro12591Ser
ENST00000589042.5:c.64966C>T (TTN) MANE Select ENSP00000467141.1:p.Pro21656Ser
ENST00000591111.5:c.60043C>T (TTN) ENSP00000465570.1:p.Pro20015Ser
ENST00000615779.4:c.60043C>T (TTN) ENSP00000483597.1:p.Pro20015Ser
NM_001256850.1:c.60043C>T (TTN) NP_001243779.1:p.Pro20015Ser
NM_001267550.2:c.64966C>T (TTN) MANE Select NP_001254479.2:p.Pro21656Ser
NM_003319.4:c.37771C>T (TTN) NP_003310.4:p.Pro12591Ser
NM_133378.4:c.57262C>T (TTN) NP_596869.4:p.Pro19088Ser
NM_133432.3:c.38146C>T (TTN) NP_597676.3:p.Pro12716Ser
NM_133437.4:c.38347C>T (TTN) NP_597681.4:p.Pro12783Ser
NR_038271.1:n.597-12921G>A (TTN-AS1)
NR_038272.1:n.2870G>A (TTN-AS1)
XM_011511729.1:c.64063C>T (TTN) XP_011510031.1:p.Pro21355Ser
XM_011511730.1:c.37957C>T (TTN) XP_011510032.1:p.Pro12653Ser
XM_011511731.1:c.37816C>T (TTN) XP_011510033.1:p.Pro12606Ser
XM_017004819.1:c.63859C>T (TTN) XP_016860308.1:p.Pro21287Ser
XM_017004820.1:c.59257C>T (TTN) XP_016860309.1:p.Pro19753Ser
XM_017004821.1:c.59254C>T (TTN) XP_016860310.1:p.Pro19752Ser
XM_017004822.1:c.56296C>T (TTN) XP_016860311.1:p.Pro18766Ser
XM_017004823.1:c.37912C>T (TTN) XP_016860312.1:p.Pro12638Ser
XM_024453094.1:c.59407C>T (TTN) XP_024308862.1:p.Pro19803Ser
XM_024453095.1:c.59404C>T (TTN) XP_024308863.1:p.Pro19802Ser
XM_024453096.1:c.58837C>T (TTN) XP_024308864.1:p.Pro19613Ser
XM_024453097.1:c.56179C>T (TTN) XP_024308865.1:p.Pro18727Ser
XM_024453098.1:c.56098C>T (TTN) XP_024308866.1:p.Pro18700Ser
XM_024453099.1:c.37861C>T (TTN) XP_024308867.1:p.Pro12621Ser
XM_024453100.1:c.27715C>T (TTN) XP_024308868.1:p.Pro9239Ser