Canonical Allele Identifier: CA349616288

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569879G>T , CM000664.2:g.178569879G>T GRCh38
NC_000002.11:g.179434606G>T , CM000664.1:g.179434606G>T GRCh37
NC_000002.10:g.179142852G>T NCBI36
NG_011618.3:g.265924C>A , LRG_391:g.265924C>A
NG_051363.1:g.52053G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68549C>A (TTN) ENSP00000343764.6:p.Thr22850Asn
ENST00000342175.11:c.49634C>A (TTN) ENSP00000340554.6:p.Thr16545Asn
ENST00000359218.10:c.49433C>A (TTN) ENSP00000352154.5:p.Thr16478Asn
ENST00000342175.10:c.49634C>A (TTN) ENSP00000340554.6:p.Thr16545Asn
ENST00000342992.10:c.68549C>A (TTN) ENSP00000343764.6:p.Thr22850Asn
ENST00000359218.9:c.49433C>A (TTN) ENSP00000352154.5:p.Thr16478Asn
ENST00000460472.6:c.49058C>A (TTN) ENSP00000434586.1:p.Thr16353Asn
ENST00000589042.5:c.76253C>A (TTN) MANE Select ENSP00000467141.1:p.Thr25418Asn
ENST00000591111.5:c.71330C>A (TTN) ENSP00000465570.1:p.Thr23777Asn
ENST00000615779.4:c.71330C>A (TTN) ENSP00000483597.1:p.Thr23777Asn
NM_001256850.1:c.71330C>A (TTN) NP_001243779.1:p.Thr23777Asn
NM_001267550.2:c.76253C>A (TTN) MANE Select NP_001254479.2:p.Thr25418Asn
NM_003319.4:c.49058C>A (TTN) NP_003310.4:p.Thr16353Asn
NM_133378.4:c.68549C>A (TTN) NP_596869.4:p.Thr22850Asn
NM_133432.3:c.49433C>A (TTN) NP_597676.3:p.Thr16478Asn
NM_133437.4:c.49634C>A (TTN) NP_597681.4:p.Thr16545Asn
NR_038271.1:n.447-1421G>T (TTN-AS1)
NR_038272.1:n.2044-12693G>T (TTN-AS1)
XM_011511729.1:c.75350C>A (TTN) XP_011510031.1:p.Thr25117Asn
XM_011511730.1:c.49244C>A (TTN) XP_011510032.1:p.Thr16415Asn
XM_011511731.1:c.49103C>A (TTN) XP_011510033.1:p.Thr16368Asn
XM_017004819.1:c.75146C>A (TTN) XP_016860308.1:p.Thr25049Asn
XM_017004820.1:c.70544C>A (TTN) XP_016860309.1:p.Thr23515Asn
XM_017004821.1:c.70541C>A (TTN) XP_016860310.1:p.Thr23514Asn
XM_017004822.1:c.67583C>A (TTN) XP_016860311.1:p.Thr22528Asn
XM_017004823.1:c.49199C>A (TTN) XP_016860312.1:p.Thr16400Asn
XM_024453094.1:c.70694C>A (TTN) XP_024308862.1:p.Thr23565Asn
XM_024453095.1:c.70691C>A (TTN) XP_024308863.1:p.Thr23564Asn
XM_024453096.1:c.70124C>A (TTN) XP_024308864.1:p.Thr23375Asn
XM_024453097.1:c.67466C>A (TTN) XP_024308865.1:p.Thr22489Asn
XM_024453098.1:c.67385C>A (TTN) XP_024308866.1:p.Thr22462Asn
XM_024453099.1:c.49148C>A (TTN) XP_024308867.1:p.Thr16383Asn
XM_024453100.1:c.39002C>A (TTN) XP_024308868.1:p.Thr13001Asn