Canonical Allele Identifier: CA1310549765

Linked Data

dbSNP Id: rs2057126026

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615274C>T , CM000664.2:g.178615274C>T GRCh38
NC_000002.11:g.179480001C>T , CM000664.1:g.179480001C>T GRCh37
NC_000002.10:g.179188246C>T NCBI36
NG_011618.3:g.220529G>A , LRG_391:g.220529G>A
NG_051363.1:g.97448C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.40934+33G>A (TTN) ENSP00000343764.6:n.40934+33G>A
ENST00000342175.11:c.22019+33G>A (TTN) ENSP00000340554.6:n.22019+33G>A
ENST00000359218.10:c.21818+33G>A (TTN) ENSP00000352154.5:n.21818+33G>A
ENST00000342175.10:c.22019+33G>A (TTN) ENSP00000340554.6:n.22019+33G>A
ENST00000342992.10:c.40934+33G>A (TTN) ENSP00000343764.6:n.40934+33G>A
ENST00000359218.9:c.21818+33G>A (TTN) ENSP00000352154.5:n.21818+33G>A
ENST00000460472.6:c.21443+33G>A (TTN) ENSP00000434586.1:n.21443+33G>A
ENST00000589042.5:c.48638+33G>A (TTN) MANE Select ENSP00000467141.1:n.48638+33G>A
ENST00000591111.5:c.43715+33G>A (TTN) ENSP00000465570.1:n.43715+33G>A
ENST00000615779.4:c.43715+33G>A (TTN) ENSP00000483597.1:n.43715+33G>A
NM_001256850.1:c.43715+33G>A (TTN) NP_001243779.1:n.43715+33G>A
NM_001267550.2:c.48638+33G>A (TTN) MANE Select NP_001254479.2:n.48638+33G>A
NM_003319.4:c.21443+33G>A (TTN) NP_003310.4:n.21443+33G>A
NM_133378.4:c.40934+33G>A (TTN) NP_596869.4:n.40934+33G>A
NM_133432.3:c.21818+33G>A (TTN) NP_597676.3:n.21818+33G>A
NM_133437.4:c.22019+33G>A (TTN) NP_597681.4:n.22019+33G>A
NR_038271.1:n.1553-49C>T (TTN-AS1)
XM_011511729.1:c.47735+33G>A (TTN) XP_011510031.1:n.47735+33G>A
XM_011511730.1:c.21629+33G>A (TTN) XP_011510032.1:n.21629+33G>A
XM_011511731.1:c.21488+33G>A (TTN) XP_011510033.1:n.21488+33G>A
XM_017004819.1:c.47531+33G>A (TTN) XP_016860308.1:n.47531+33G>A
XM_017004820.1:c.42929+33G>A (TTN) XP_016860309.1:n.42929+33G>A
XM_017004821.1:c.42926+33G>A (TTN) XP_016860310.1:n.42926+33G>A
XM_017004822.1:c.39968+33G>A (TTN) XP_016860311.1:n.39968+33G>A
XM_017004823.1:c.21584+33G>A (TTN) XP_016860312.1:n.21584+33G>A
XM_024453094.1:c.43079+33G>A (TTN) XP_024308862.1:n.43079+33G>A
XM_024453095.1:c.43076+33G>A (TTN) XP_024308863.1:n.43076+33G>A
XM_024453096.1:c.42509+33G>A (TTN) XP_024308864.1:n.42509+33G>A
XM_024453097.1:c.39851+33G>A (TTN) XP_024308865.1:n.39851+33G>A
XM_024453098.1:c.39770+33G>A (TTN) XP_024308866.1:n.39770+33G>A
XM_024453099.1:c.21533+33G>A (TTN) XP_024308867.1:n.21533+33G>A
XM_024453100.1:c.11387+33G>A (TTN) XP_024308868.1:n.11387+33G>A