Canonical Allele Identifier: CA349545230

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602336C>G , CM000664.2:g.178602336C>G GRCh38
NC_000002.11:g.179467063C>G , CM000664.1:g.179467063C>G GRCh37
NC_000002.10:g.179175308C>G NCBI36
NG_011618.3:g.233467G>C , LRG_391:g.233467G>C
NG_051363.1:g.84510C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.47362G>C (TTN) ENSP00000343764.6:p.Gly15788Arg
ENST00000342175.11:c.28447G>C (TTN) ENSP00000340554.6:p.Gly9483Arg
ENST00000359218.10:c.28246G>C (TTN) ENSP00000352154.5:p.Gly9416Arg
ENST00000342175.10:c.28447G>C (TTN) ENSP00000340554.6:p.Gly9483Arg
ENST00000342992.10:c.47362G>C (TTN) ENSP00000343764.6:p.Gly15788Arg
ENST00000359218.9:c.28246G>C (TTN) ENSP00000352154.5:p.Gly9416Arg
ENST00000460472.6:c.27871G>C (TTN) ENSP00000434586.1:p.Gly9291Arg
ENST00000589042.5:c.55066G>C (TTN) MANE Select ENSP00000467141.1:p.Gly18356Arg
ENST00000591111.5:c.50143G>C (TTN) ENSP00000465570.1:p.Gly16715Arg
ENST00000615779.4:c.50143G>C (TTN) ENSP00000483597.1:p.Gly16715Arg
NM_001256850.1:c.50143G>C (TTN) NP_001243779.1:p.Gly16715Arg
NM_001267550.2:c.55066G>C (TTN) MANE Select NP_001254479.2:p.Gly18356Arg
NM_003319.4:c.27871G>C (TTN) NP_003310.4:p.Gly9291Arg
NM_133378.4:c.47362G>C (TTN) NP_596869.4:p.Gly15788Arg
NM_133432.3:c.28246G>C (TTN) NP_597676.3:p.Gly9416Arg
NM_133437.4:c.28447G>C (TTN) NP_597681.4:p.Gly9483Arg
NR_038271.1:n.682+4655C>G (TTN-AS1)
NR_038272.1:n.3917+1669C>G (TTN-AS1)
XM_011511729.1:c.54163G>C (TTN) XP_011510031.1:p.Gly18055Arg
XM_011511730.1:c.28057G>C (TTN) XP_011510032.1:p.Gly9353Arg
XM_011511731.1:c.27916G>C (TTN) XP_011510033.1:p.Gly9306Arg
XM_017004819.1:c.53959G>C (TTN) XP_016860308.1:p.Gly17987Arg
XM_017004820.1:c.49357G>C (TTN) XP_016860309.1:p.Gly16453Arg
XM_017004821.1:c.49354G>C (TTN) XP_016860310.1:p.Gly16452Arg
XM_017004822.1:c.46396G>C (TTN) XP_016860311.1:p.Gly15466Arg
XM_017004823.1:c.28012G>C (TTN) XP_016860312.1:p.Gly9338Arg
XM_024453094.1:c.49507G>C (TTN) XP_024308862.1:p.Gly16503Arg
XM_024453095.1:c.49504G>C (TTN) XP_024308863.1:p.Gly16502Arg
XM_024453096.1:c.48937G>C (TTN) XP_024308864.1:p.Gly16313Arg
XM_024453097.1:c.46279G>C (TTN) XP_024308865.1:p.Gly15427Arg
XM_024453098.1:c.46198G>C (TTN) XP_024308866.1:p.Gly15400Arg
XM_024453099.1:c.27961G>C (TTN) XP_024308867.1:p.Gly9321Arg
XM_024453100.1:c.17815G>C (TTN) XP_024308868.1:p.Gly5939Arg