Canonical Allele Identifier: CA2662132602

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615281A>G , CM000664.2:g.178615281A>G GRCh38
NC_000002.11:g.179480008A>G , CM000664.1:g.179480008A>G GRCh37
NC_000002.10:g.179188253A>G NCBI36
NG_011618.3:g.220522T>C , LRG_391:g.220522T>C
NG_051363.1:g.97455A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.40934+26T>C (TTN) ENSP00000343764.6:n.40934+26T>C
ENST00000342175.11:c.22019+26T>C (TTN) ENSP00000340554.6:n.22019+26T>C
ENST00000359218.10:c.21818+26T>C (TTN) ENSP00000352154.5:n.21818+26T>C
ENST00000342175.10:c.22019+26T>C (TTN) ENSP00000340554.6:n.22019+26T>C
ENST00000342992.10:c.40934+26T>C (TTN) ENSP00000343764.6:n.40934+26T>C
ENST00000359218.9:c.21818+26T>C (TTN) ENSP00000352154.5:n.21818+26T>C
ENST00000460472.6:c.21443+26T>C (TTN) ENSP00000434586.1:n.21443+26T>C
ENST00000589042.5:c.48638+26T>C (TTN) MANE Select ENSP00000467141.1:n.48638+26T>C
ENST00000591111.5:c.43715+26T>C (TTN) ENSP00000465570.1:n.43715+26T>C
ENST00000615779.4:c.43715+26T>C (TTN) ENSP00000483597.1:n.43715+26T>C
NM_001256850.1:c.43715+26T>C (TTN) NP_001243779.1:n.43715+26T>C
NM_001267550.2:c.48638+26T>C (TTN) MANE Select NP_001254479.2:n.48638+26T>C
NM_003319.4:c.21443+26T>C (TTN) NP_003310.4:n.21443+26T>C
NM_133378.4:c.40934+26T>C (TTN) NP_596869.4:n.40934+26T>C
NM_133432.3:c.21818+26T>C (TTN) NP_597676.3:n.21818+26T>C
NM_133437.4:c.22019+26T>C (TTN) NP_597681.4:n.22019+26T>C
NR_038271.1:n.1553-42A>G (TTN-AS1)
XM_011511729.1:c.47735+26T>C (TTN) XP_011510031.1:n.47735+26T>C
XM_011511730.1:c.21629+26T>C (TTN) XP_011510032.1:n.21629+26T>C
XM_011511731.1:c.21488+26T>C (TTN) XP_011510033.1:n.21488+26T>C
XM_017004819.1:c.47531+26T>C (TTN) XP_016860308.1:n.47531+26T>C
XM_017004820.1:c.42929+26T>C (TTN) XP_016860309.1:n.42929+26T>C
XM_017004821.1:c.42926+26T>C (TTN) XP_016860310.1:n.42926+26T>C
XM_017004822.1:c.39968+26T>C (TTN) XP_016860311.1:n.39968+26T>C
XM_017004823.1:c.21584+26T>C (TTN) XP_016860312.1:n.21584+26T>C
XM_024453094.1:c.43079+26T>C (TTN) XP_024308862.1:n.43079+26T>C
XM_024453095.1:c.43076+26T>C (TTN) XP_024308863.1:n.43076+26T>C
XM_024453096.1:c.42509+26T>C (TTN) XP_024308864.1:n.42509+26T>C
XM_024453097.1:c.39851+26T>C (TTN) XP_024308865.1:n.39851+26T>C
XM_024453098.1:c.39770+26T>C (TTN) XP_024308866.1:n.39770+26T>C
XM_024453099.1:c.21533+26T>C (TTN) XP_024308867.1:n.21533+26T>C
XM_024453100.1:c.11387+26T>C (TTN) XP_024308868.1:n.11387+26T>C