Canonical Allele Identifier: CA349543387

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559643A>C , CM000664.2:g.178559643A>C GRCh38
NC_000002.11:g.179424370A>C , CM000664.1:g.179424370A>C GRCh37
NC_000002.10:g.179132616A>C NCBI36
NG_011618.3:g.276160T>G , LRG_391:g.276160T>G
NG_051363.1:g.41817A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78785T>G (TTN) ENSP00000343764.6:p.Val26262Gly
ENST00000342175.11:c.59870T>G (TTN) ENSP00000340554.6:p.Val19957Gly
ENST00000359218.10:c.59669T>G (TTN) ENSP00000352154.5:p.Val19890Gly
ENST00000342175.10:c.59870T>G (TTN) ENSP00000340554.6:p.Val19957Gly
ENST00000342992.10:c.78785T>G (TTN) ENSP00000343764.6:p.Val26262Gly
ENST00000359218.9:c.59669T>G (TTN) ENSP00000352154.5:p.Val19890Gly
ENST00000460472.6:c.59294T>G (TTN) ENSP00000434586.1:p.Val19765Gly
ENST00000589042.5:c.86489T>G (TTN) MANE Select ENSP00000467141.1:p.Val28830Gly
ENST00000591111.5:c.81566T>G (TTN) ENSP00000465570.1:p.Val27189Gly
ENST00000615779.4:c.81566T>G (TTN) ENSP00000483597.1:p.Val27189Gly
NM_001256850.1:c.81566T>G (TTN) NP_001243779.1:p.Val27189Gly
NM_001267550.2:c.86489T>G (TTN) MANE Select NP_001254479.2:p.Val28830Gly
NM_003319.4:c.59294T>G (TTN) NP_003310.4:p.Val19765Gly
NM_133378.4:c.78785T>G (TTN) NP_596869.4:p.Val26262Gly
NM_133432.3:c.59669T>G (TTN) NP_597676.3:p.Val19890Gly
NM_133437.4:c.59870T>G (TTN) NP_597681.4:p.Val19957Gly
NR_038271.1:n.447-11657A>C (TTN-AS1)
NR_038272.1:n.2043+17282A>C (TTN-AS1)
XM_011511729.1:c.85586T>G (TTN) XP_011510031.1:p.Val28529Gly
XM_011511730.1:c.59480T>G (TTN) XP_011510032.1:p.Val19827Gly
XM_011511731.1:c.59339T>G (TTN) XP_011510033.1:p.Val19780Gly
XM_017004819.1:c.85382T>G (TTN) XP_016860308.1:p.Val28461Gly
XM_017004820.1:c.80780T>G (TTN) XP_016860309.1:p.Val26927Gly
XM_017004821.1:c.80777T>G (TTN) XP_016860310.1:p.Val26926Gly
XM_017004822.1:c.77819T>G (TTN) XP_016860311.1:p.Val25940Gly
XM_017004823.1:c.59435T>G (TTN) XP_016860312.1:p.Val19812Gly
XM_024453094.1:c.80930T>G (TTN) XP_024308862.1:p.Val26977Gly
XM_024453095.1:c.80927T>G (TTN) XP_024308863.1:p.Val26976Gly
XM_024453096.1:c.80360T>G (TTN) XP_024308864.1:p.Val26787Gly
XM_024453097.1:c.77702T>G (TTN) XP_024308865.1:p.Val25901Gly
XM_024453098.1:c.77621T>G (TTN) XP_024308866.1:p.Val25874Gly
XM_024453099.1:c.59384T>G (TTN) XP_024308867.1:p.Val19795Gly
XM_024453100.1:c.49238T>G (TTN) XP_024308868.1:p.Val16413Gly