Canonical Allele Identifier: CA349454279

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544094G>T , CM000664.2:g.178544094G>T GRCh38
NC_000002.11:g.179408821G>T , CM000664.1:g.179408821G>T GRCh37
NC_000002.10:g.179117067G>T NCBI36
NG_011618.3:g.291709C>A , LRG_391:g.291709C>A
NG_051363.1:g.26268G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88346C>A (TTN) ENSP00000343764.6:p.Ala29449Glu
ENST00000342175.11:c.69431C>A (TTN) ENSP00000340554.6:p.Ala23144Glu
ENST00000359218.10:c.69230C>A (TTN) ENSP00000352154.5:p.Ala23077Glu
ENST00000342175.10:c.69431C>A (TTN) ENSP00000340554.6:p.Ala23144Glu
ENST00000342992.10:c.88346C>A (TTN) ENSP00000343764.6:p.Ala29449Glu
ENST00000359218.9:c.69230C>A (TTN) ENSP00000352154.5:p.Ala23077Glu
ENST00000460472.6:c.68855C>A (TTN) ENSP00000434586.1:p.Ala22952Glu
ENST00000589042.5:c.96050C>A (TTN) MANE Select ENSP00000467141.1:p.Ala32017Glu
ENST00000591111.5:c.91127C>A (TTN) ENSP00000465570.1:p.Ala30376Glu
ENST00000615779.4:c.91127C>A (TTN) ENSP00000483597.1:p.Ala30376Glu
NM_001256850.1:c.91127C>A (TTN) NP_001243779.1:p.Ala30376Glu
NM_001267550.2:c.96050C>A (TTN) MANE Select NP_001254479.2:p.Ala32017Glu
NM_003319.4:c.68855C>A (TTN) NP_003310.4:p.Ala22952Glu
NM_133378.4:c.88346C>A (TTN) NP_596869.4:p.Ala29449Glu
NM_133432.3:c.69230C>A (TTN) NP_597676.3:p.Ala23077Glu
NM_133437.4:c.69431C>A (TTN) NP_597681.4:p.Ala23144Glu
NR_038271.1:n.446+20458G>T (TTN-AS1)
NR_038272.1:n.2043+1733G>T (TTN-AS1)
XM_011511729.1:c.95147C>A (TTN) XP_011510031.1:p.Ala31716Glu
XM_011511730.1:c.69041C>A (TTN) XP_011510032.1:p.Ala23014Glu
XM_011511731.1:c.68900C>A (TTN) XP_011510033.1:p.Ala22967Glu
XM_017004819.1:c.94943C>A (TTN) XP_016860308.1:p.Ala31648Glu
XM_017004820.1:c.90341C>A (TTN) XP_016860309.1:p.Ala30114Glu
XM_017004821.1:c.90338C>A (TTN) XP_016860310.1:p.Ala30113Glu
XM_017004822.1:c.87380C>A (TTN) XP_016860311.1:p.Ala29127Glu
XM_017004823.1:c.68996C>A (TTN) XP_016860312.1:p.Ala22999Glu
XM_024453094.1:c.90491C>A (TTN) XP_024308862.1:p.Ala30164Glu
XM_024453095.1:c.90488C>A (TTN) XP_024308863.1:p.Ala30163Glu
XM_024453096.1:c.89921C>A (TTN) XP_024308864.1:p.Ala29974Glu
XM_024453097.1:c.87263C>A (TTN) XP_024308865.1:p.Ala29088Glu
XM_024453098.1:c.87182C>A (TTN) XP_024308866.1:p.Ala29061Glu
XM_024453099.1:c.68945C>A (TTN) XP_024308867.1:p.Ala22982Glu
XM_024453100.1:c.58799C>A (TTN) XP_024308868.1:p.Ala19600Glu