Canonical Allele Identifier: CA349672059

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577897A>C , CM000664.2:g.178577897A>C GRCh38
NC_000002.11:g.179442624A>C , CM000664.1:g.179442624A>C GRCh37
NC_000002.10:g.179150870A>C NCBI36
NG_011618.3:g.257906T>G , LRG_391:g.257906T>G
NG_051363.1:g.60071A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60825T>G (TTN) ENSP00000343764.6:p.Asp20275Glu
ENST00000342175.11:c.41910T>G (TTN) ENSP00000340554.6:p.Asp13970Glu
ENST00000359218.10:c.41709T>G (TTN) ENSP00000352154.5:p.Asp13903Glu
ENST00000342175.10:c.41910T>G (TTN) ENSP00000340554.6:p.Asp13970Glu
ENST00000342992.10:c.60825T>G (TTN) ENSP00000343764.6:p.Asp20275Glu
ENST00000359218.9:c.41709T>G (TTN) ENSP00000352154.5:p.Asp13903Glu
ENST00000460472.6:c.41334T>G (TTN) ENSP00000434586.1:p.Asp13778Glu
ENST00000589042.5:c.68529T>G (TTN) MANE Select ENSP00000467141.1:p.Asp22843Glu
ENST00000591111.5:c.63606T>G (TTN) ENSP00000465570.1:p.Asp21202Glu
ENST00000615779.4:c.63606T>G (TTN) ENSP00000483597.1:p.Asp21202Glu
NM_001256850.1:c.63606T>G (TTN) NP_001243779.1:p.Asp21202Glu
NM_001267550.2:c.68529T>G (TTN) MANE Select NP_001254479.2:p.Asp22843Glu
NM_003319.4:c.41334T>G (TTN) NP_003310.4:p.Asp13778Glu
NM_133378.4:c.60825T>G (TTN) NP_596869.4:p.Asp20275Glu
NM_133432.3:c.41709T>G (TTN) NP_597676.3:p.Asp13903Glu
NM_133437.4:c.41910T>G (TTN) NP_597681.4:p.Asp13970Glu
NR_038271.1:n.596+6448A>C (TTN-AS1)
NR_038272.1:n.2044-4675A>C (TTN-AS1)
XM_011511729.1:c.67626T>G (TTN) XP_011510031.1:p.Asp22542Glu
XM_011511730.1:c.41520T>G (TTN) XP_011510032.1:p.Asp13840Glu
XM_011511731.1:c.41379T>G (TTN) XP_011510033.1:p.Asp13793Glu
XM_017004819.1:c.67422T>G (TTN) XP_016860308.1:p.Asp22474Glu
XM_017004820.1:c.62820T>G (TTN) XP_016860309.1:p.Asp20940Glu
XM_017004821.1:c.62817T>G (TTN) XP_016860310.1:p.Asp20939Glu
XM_017004822.1:c.59859T>G (TTN) XP_016860311.1:p.Asp19953Glu
XM_017004823.1:c.41475T>G (TTN) XP_016860312.1:p.Asp13825Glu
XM_024453094.1:c.62970T>G (TTN) XP_024308862.1:p.Asp20990Glu
XM_024453095.1:c.62967T>G (TTN) XP_024308863.1:p.Asp20989Glu
XM_024453096.1:c.62400T>G (TTN) XP_024308864.1:p.Asp20800Glu
XM_024453097.1:c.59742T>G (TTN) XP_024308865.1:p.Asp19914Glu
XM_024453098.1:c.59661T>G (TTN) XP_024308866.1:p.Asp19887Glu
XM_024453099.1:c.41424T>G (TTN) XP_024308867.1:p.Asp13808Glu
XM_024453100.1:c.31278T>G (TTN) XP_024308868.1:p.Asp10426Glu