Canonical Allele Identifier: CA349568190

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607577T>A , CM000664.2:g.178607577T>A GRCh38
NC_000002.11:g.179472304T>A , CM000664.1:g.179472304T>A GRCh37
NC_000002.10:g.179180549T>A NCBI36
NG_011618.3:g.228226A>T , LRG_391:g.228226A>T
NG_051363.1:g.89751T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.45407A>T (TTN) ENSP00000343764.6:p.Lys15136Ile
ENST00000342175.11:c.26492A>T (TTN) ENSP00000340554.6:p.Lys8831Ile
ENST00000359218.10:c.26291A>T (TTN) ENSP00000352154.5:p.Lys8764Ile
ENST00000342175.10:c.26492A>T (TTN) ENSP00000340554.6:p.Lys8831Ile
ENST00000342992.10:c.45407A>T (TTN) ENSP00000343764.6:p.Lys15136Ile
ENST00000359218.9:c.26291A>T (TTN) ENSP00000352154.5:p.Lys8764Ile
ENST00000460472.6:c.25916A>T (TTN) ENSP00000434586.1:p.Lys8639Ile
ENST00000589042.5:c.53111A>T (TTN) MANE Select ENSP00000467141.1:p.Lys17704Ile
ENST00000591111.5:c.48188A>T (TTN) ENSP00000465570.1:p.Lys16063Ile
ENST00000615779.4:c.48188A>T (TTN) ENSP00000483597.1:p.Lys16063Ile
NM_001256850.1:c.48188A>T (TTN) NP_001243779.1:p.Lys16063Ile
NM_001267550.2:c.53111A>T (TTN) MANE Select NP_001254479.2:p.Lys17704Ile
NM_003319.4:c.25916A>T (TTN) NP_003310.4:p.Lys8639Ile
NM_133378.4:c.45407A>T (TTN) NP_596869.4:p.Lys15136Ile
NM_133432.3:c.26291A>T (TTN) NP_597676.3:p.Lys8764Ile
NM_133437.4:c.26492A>T (TTN) NP_597681.4:p.Lys8831Ile
NR_038271.1:n.683-590T>A (TTN-AS1)
XM_011511729.1:c.52208A>T (TTN) XP_011510031.1:p.Lys17403Ile
XM_011511730.1:c.26102A>T (TTN) XP_011510032.1:p.Lys8701Ile
XM_011511731.1:c.25961A>T (TTN) XP_011510033.1:p.Lys8654Ile
XM_017004819.1:c.52004A>T (TTN) XP_016860308.1:p.Lys17335Ile
XM_017004820.1:c.47402A>T (TTN) XP_016860309.1:p.Lys15801Ile
XM_017004821.1:c.47399A>T (TTN) XP_016860310.1:p.Lys15800Ile
XM_017004822.1:c.44441A>T (TTN) XP_016860311.1:p.Lys14814Ile
XM_017004823.1:c.26057A>T (TTN) XP_016860312.1:p.Lys8686Ile
XM_024453094.1:c.47552A>T (TTN) XP_024308862.1:p.Lys15851Ile
XM_024453095.1:c.47549A>T (TTN) XP_024308863.1:p.Lys15850Ile
XM_024453096.1:c.46982A>T (TTN) XP_024308864.1:p.Lys15661Ile
XM_024453097.1:c.44324A>T (TTN) XP_024308865.1:p.Lys14775Ile
XM_024453098.1:c.44243A>T (TTN) XP_024308866.1:p.Lys14748Ile
XM_024453099.1:c.26006A>T (TTN) XP_024308867.1:p.Lys8669Ile
XM_024453100.1:c.15860A>T (TTN) XP_024308868.1:p.Lys5287Ile