Canonical Allele Identifier: CA349582487

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609682A>C , CM000664.2:g.178609682A>C GRCh38
NC_000002.11:g.179474409A>C , CM000664.1:g.179474409A>C GRCh37
NC_000002.10:g.179182654A>C NCBI36
NG_011618.3:g.226121T>G , LRG_391:g.226121T>G
NG_051363.1:g.91856A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.44035+2T>G (TTN) ENSP00000343764.6:n.44035+2T>G
ENST00000342175.11:c.25120+2T>G (TTN) ENSP00000340554.6:n.25120+2T>G
ENST00000359218.10:c.24919+2T>G (TTN) ENSP00000352154.5:n.24919+2T>G
ENST00000342175.10:c.25120+2T>G (TTN) ENSP00000340554.6:n.25120+2T>G
ENST00000342992.10:c.44035+2T>G (TTN) ENSP00000343764.6:n.44035+2T>G
ENST00000359218.9:c.24919+2T>G (TTN) ENSP00000352154.5:n.24919+2T>G
ENST00000460472.6:c.24544+2T>G (TTN) ENSP00000434586.1:n.24544+2T>G
ENST00000589042.5:c.51739+2T>G (TTN) MANE Select ENSP00000467141.1:n.51739+2T>G
ENST00000591111.5:c.46816+2T>G (TTN) ENSP00000465570.1:n.46816+2T>G
ENST00000615779.4:c.46816+2T>G (TTN) ENSP00000483597.1:n.46816+2T>G
NM_001256850.1:c.46816+2T>G (TTN) NP_001243779.1:n.46816+2T>G
NM_001267550.2:c.51739+2T>G (TTN) MANE Select NP_001254479.2:n.51739+2T>G
NM_003319.4:c.24544+2T>G (TTN) NP_003310.4:n.24544+2T>G
NM_133378.4:c.44035+2T>G (TTN) NP_596869.4:n.44035+2T>G
NM_133432.3:c.24919+2T>G (TTN) NP_597676.3:n.24919+2T>G
NM_133437.4:c.25120+2T>G (TTN) NP_597681.4:n.25120+2T>G
NR_038271.1:n.782+1416A>C (TTN-AS1)
XM_011511729.1:c.50836+2T>G (TTN) XP_011510031.1:n.50836+2T>G
XM_011511730.1:c.24730+2T>G (TTN) XP_011510032.1:n.24730+2T>G
XM_011511731.1:c.24589+2T>G (TTN) XP_011510033.1:n.24589+2T>G
XM_017004819.1:c.50632+2T>G (TTN) XP_016860308.1:n.50632+2T>G
XM_017004820.1:c.46030+2T>G (TTN) XP_016860309.1:n.46030+2T>G
XM_017004821.1:c.46027+2T>G (TTN) XP_016860310.1:n.46027+2T>G
XM_017004822.1:c.43069+2T>G (TTN) XP_016860311.1:n.43069+2T>G
XM_017004823.1:c.24685+2T>G (TTN) XP_016860312.1:n.24685+2T>G
XM_024453094.1:c.46180+2T>G (TTN) XP_024308862.1:n.46180+2T>G
XM_024453095.1:c.46177+2T>G (TTN) XP_024308863.1:n.46177+2T>G
XM_024453096.1:c.45610+2T>G (TTN) XP_024308864.1:n.45610+2T>G
XM_024453097.1:c.42952+2T>G (TTN) XP_024308865.1:n.42952+2T>G
XM_024453098.1:c.42871+2T>G (TTN) XP_024308866.1:n.42871+2T>G
XM_024453099.1:c.24634+2T>G (TTN) XP_024308867.1:n.24634+2T>G
XM_024453100.1:c.14488+2T>G (TTN) XP_024308868.1:n.14488+2T>G