Canonical Allele Identifier: CA349450956

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543897A>C , CM000664.2:g.178543897A>C GRCh38
NC_000002.11:g.179408624A>C , CM000664.1:g.179408624A>C GRCh37
NC_000002.10:g.179116870A>C NCBI36
NG_011618.3:g.291906T>G , LRG_391:g.291906T>G
NG_051363.1:g.26071A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88543T>G (TTN) ENSP00000343764.6:p.Tyr29515Asp
ENST00000342175.11:c.69628T>G (TTN) ENSP00000340554.6:p.Tyr23210Asp
ENST00000359218.10:c.69427T>G (TTN) ENSP00000352154.5:p.Tyr23143Asp
ENST00000342175.10:c.69628T>G (TTN) ENSP00000340554.6:p.Tyr23210Asp
ENST00000342992.10:c.88543T>G (TTN) ENSP00000343764.6:p.Tyr29515Asp
ENST00000359218.9:c.69427T>G (TTN) ENSP00000352154.5:p.Tyr23143Asp
ENST00000460472.6:c.69052T>G (TTN) ENSP00000434586.1:p.Tyr23018Asp
ENST00000589042.5:c.96247T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr32083Asp
ENST00000591111.5:c.91324T>G (TTN) ENSP00000465570.1:p.Tyr30442Asp
ENST00000615779.4:c.91324T>G (TTN) ENSP00000483597.1:p.Tyr30442Asp
NM_001256850.1:c.91324T>G (TTN) NP_001243779.1:p.Tyr30442Asp
NM_001267550.2:c.96247T>G (TTN) MANE Select NP_001254479.2:p.Tyr32083Asp
NM_003319.4:c.69052T>G (TTN) NP_003310.4:p.Tyr23018Asp
NM_133378.4:c.88543T>G (TTN) NP_596869.4:p.Tyr29515Asp
NM_133432.3:c.69427T>G (TTN) NP_597676.3:p.Tyr23143Asp
NM_133437.4:c.69628T>G (TTN) NP_597681.4:p.Tyr23210Asp
NR_038271.1:n.446+20261A>C (TTN-AS1)
NR_038272.1:n.2043+1536A>C (TTN-AS1)
XM_011511729.1:c.95344T>G (TTN) XP_011510031.1:p.Tyr31782Asp
XM_011511730.1:c.69238T>G (TTN) XP_011510032.1:p.Tyr23080Asp
XM_011511731.1:c.69097T>G (TTN) XP_011510033.1:p.Tyr23033Asp
XM_017004819.1:c.95140T>G (TTN) XP_016860308.1:p.Tyr31714Asp
XM_017004820.1:c.90538T>G (TTN) XP_016860309.1:p.Tyr30180Asp
XM_017004821.1:c.90535T>G (TTN) XP_016860310.1:p.Tyr30179Asp
XM_017004822.1:c.87577T>G (TTN) XP_016860311.1:p.Tyr29193Asp
XM_017004823.1:c.69193T>G (TTN) XP_016860312.1:p.Tyr23065Asp
XM_024453094.1:c.90688T>G (TTN) XP_024308862.1:p.Tyr30230Asp
XM_024453095.1:c.90685T>G (TTN) XP_024308863.1:p.Tyr30229Asp
XM_024453096.1:c.90118T>G (TTN) XP_024308864.1:p.Tyr30040Asp
XM_024453097.1:c.87460T>G (TTN) XP_024308865.1:p.Tyr29154Asp
XM_024453098.1:c.87379T>G (TTN) XP_024308866.1:p.Tyr29127Asp
XM_024453099.1:c.69142T>G (TTN) XP_024308867.1:p.Tyr23048Asp
XM_024453100.1:c.58996T>G (TTN) XP_024308868.1:p.Tyr19666Asp