Canonical Allele Identifier: CA349490041

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548759G>A , CM000664.2:g.178548759G>A GRCh38
NC_000002.11:g.179413486G>A , CM000664.1:g.179413486G>A GRCh37
NC_000002.10:g.179121732G>A NCBI36
NG_011618.3:g.287044C>T , LRG_391:g.287044C>T
NG_051363.1:g.30933G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85163C>T (TTN) ENSP00000343764.6:p.Thr28388Ile
ENST00000342175.11:c.66248C>T (TTN) ENSP00000340554.6:p.Thr22083Ile
ENST00000359218.10:c.66047C>T (TTN) ENSP00000352154.5:p.Thr22016Ile
ENST00000342175.10:c.66248C>T (TTN) ENSP00000340554.6:p.Thr22083Ile
ENST00000342992.10:c.85163C>T (TTN) ENSP00000343764.6:p.Thr28388Ile
ENST00000359218.9:c.66047C>T (TTN) ENSP00000352154.5:p.Thr22016Ile
ENST00000460472.6:c.65672C>T (TTN) ENSP00000434586.1:p.Thr21891Ile
ENST00000589042.5:c.92867C>T (TTN) MANE Select ENSP00000467141.1:p.Thr30956Ile
ENST00000591111.5:c.87944C>T (TTN) ENSP00000465570.1:p.Thr29315Ile
ENST00000615779.4:c.87944C>T (TTN) ENSP00000483597.1:p.Thr29315Ile
NM_001256850.1:c.87944C>T (TTN) NP_001243779.1:p.Thr29315Ile
NM_001267550.2:c.92867C>T (TTN) MANE Select NP_001254479.2:p.Thr30956Ile
NM_003319.4:c.65672C>T (TTN) NP_003310.4:p.Thr21891Ile
NM_133378.4:c.85163C>T (TTN) NP_596869.4:p.Thr28388Ile
NM_133432.3:c.66047C>T (TTN) NP_597676.3:p.Thr22016Ile
NM_133437.4:c.66248C>T (TTN) NP_597681.4:p.Thr22083Ile
NR_038271.1:n.447-22541G>A (TTN-AS1)
NR_038272.1:n.2043+6398G>A (TTN-AS1)
XM_011511729.1:c.91964C>T (TTN) XP_011510031.1:p.Thr30655Ile
XM_011511730.1:c.65858C>T (TTN) XP_011510032.1:p.Thr21953Ile
XM_011511731.1:c.65717C>T (TTN) XP_011510033.1:p.Thr21906Ile
XM_017004819.1:c.91760C>T (TTN) XP_016860308.1:p.Thr30587Ile
XM_017004820.1:c.87158C>T (TTN) XP_016860309.1:p.Thr29053Ile
XM_017004821.1:c.87155C>T (TTN) XP_016860310.1:p.Thr29052Ile
XM_017004822.1:c.84197C>T (TTN) XP_016860311.1:p.Thr28066Ile
XM_017004823.1:c.65813C>T (TTN) XP_016860312.1:p.Thr21938Ile
XM_024453094.1:c.87308C>T (TTN) XP_024308862.1:p.Thr29103Ile
XM_024453095.1:c.87305C>T (TTN) XP_024308863.1:p.Thr29102Ile
XM_024453096.1:c.86738C>T (TTN) XP_024308864.1:p.Thr28913Ile
XM_024453097.1:c.84080C>T (TTN) XP_024308865.1:p.Thr28027Ile
XM_024453098.1:c.83999C>T (TTN) XP_024308866.1:p.Thr28000Ile
XM_024453099.1:c.65762C>T (TTN) XP_024308867.1:p.Thr21921Ile
XM_024453100.1:c.55616C>T (TTN) XP_024308868.1:p.Thr18539Ile