Canonical Allele Identifier: CA349672069

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577898T>C , CM000664.2:g.178577898T>C GRCh38
NC_000002.11:g.179442625T>C , CM000664.1:g.179442625T>C GRCh37
NC_000002.10:g.179150871T>C NCBI36
NG_011618.3:g.257905A>G , LRG_391:g.257905A>G
NG_051363.1:g.60072T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60824A>G (TTN) ENSP00000343764.6:p.Asp20275Gly
ENST00000342175.11:c.41909A>G (TTN) ENSP00000340554.6:p.Asp13970Gly
ENST00000359218.10:c.41708A>G (TTN) ENSP00000352154.5:p.Asp13903Gly
ENST00000342175.10:c.41909A>G (TTN) ENSP00000340554.6:p.Asp13970Gly
ENST00000342992.10:c.60824A>G (TTN) ENSP00000343764.6:p.Asp20275Gly
ENST00000359218.9:c.41708A>G (TTN) ENSP00000352154.5:p.Asp13903Gly
ENST00000460472.6:c.41333A>G (TTN) ENSP00000434586.1:p.Asp13778Gly
ENST00000589042.5:c.68528A>G (TTN) MANE Select ENSP00000467141.1:p.Asp22843Gly
ENST00000591111.5:c.63605A>G (TTN) ENSP00000465570.1:p.Asp21202Gly
ENST00000615779.4:c.63605A>G (TTN) ENSP00000483597.1:p.Asp21202Gly
NM_001256850.1:c.63605A>G (TTN) NP_001243779.1:p.Asp21202Gly
NM_001267550.2:c.68528A>G (TTN) MANE Select NP_001254479.2:p.Asp22843Gly
NM_003319.4:c.41333A>G (TTN) NP_003310.4:p.Asp13778Gly
NM_133378.4:c.60824A>G (TTN) NP_596869.4:p.Asp20275Gly
NM_133432.3:c.41708A>G (TTN) NP_597676.3:p.Asp13903Gly
NM_133437.4:c.41909A>G (TTN) NP_597681.4:p.Asp13970Gly
NR_038271.1:n.596+6449T>C (TTN-AS1)
NR_038272.1:n.2044-4674T>C (TTN-AS1)
XM_011511729.1:c.67625A>G (TTN) XP_011510031.1:p.Asp22542Gly
XM_011511730.1:c.41519A>G (TTN) XP_011510032.1:p.Asp13840Gly
XM_011511731.1:c.41378A>G (TTN) XP_011510033.1:p.Asp13793Gly
XM_017004819.1:c.67421A>G (TTN) XP_016860308.1:p.Asp22474Gly
XM_017004820.1:c.62819A>G (TTN) XP_016860309.1:p.Asp20940Gly
XM_017004821.1:c.62816A>G (TTN) XP_016860310.1:p.Asp20939Gly
XM_017004822.1:c.59858A>G (TTN) XP_016860311.1:p.Asp19953Gly
XM_017004823.1:c.41474A>G (TTN) XP_016860312.1:p.Asp13825Gly
XM_024453094.1:c.62969A>G (TTN) XP_024308862.1:p.Asp20990Gly
XM_024453095.1:c.62966A>G (TTN) XP_024308863.1:p.Asp20989Gly
XM_024453096.1:c.62399A>G (TTN) XP_024308864.1:p.Asp20800Gly
XM_024453097.1:c.59741A>G (TTN) XP_024308865.1:p.Asp19914Gly
XM_024453098.1:c.59660A>G (TTN) XP_024308866.1:p.Asp19887Gly
XM_024453099.1:c.41423A>G (TTN) XP_024308867.1:p.Asp13808Gly
XM_024453100.1:c.31277A>G (TTN) XP_024308868.1:p.Asp10426Gly