Canonical Allele Identifier: CA349450966

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88543T>A (TTN) ENSP00000343764.6:p.Tyr29515Asn
ENST00000342175.11:c.69628T>A (TTN) ENSP00000340554.6:p.Tyr23210Asn
ENST00000359218.10:c.69427T>A (TTN) ENSP00000352154.5:p.Tyr23143Asn
ENST00000342175.10:c.69628T>A (TTN) ENSP00000340554.6:p.Tyr23210Asn
ENST00000342992.10:c.88543T>A (TTN) ENSP00000343764.6:p.Tyr29515Asn
ENST00000359218.9:c.69427T>A (TTN) ENSP00000352154.5:p.Tyr23143Asn
ENST00000460472.6:c.69052T>A (TTN) ENSP00000434586.1:p.Tyr23018Asn
ENST00000589042.5:c.96247T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr32083Asn
ENST00000591111.5:c.91324T>A (TTN) ENSP00000465570.1:p.Tyr30442Asn
ENST00000615779.4:c.91324T>A (TTN) ENSP00000483597.1:p.Tyr30442Asn
NM_001256850.1:c.91324T>A (TTN) NP_001243779.1:p.Tyr30442Asn
NM_001267550.2:c.96247T>A (TTN) MANE Select NP_001254479.2:p.Tyr32083Asn
NM_003319.4:c.69052T>A (TTN) NP_003310.4:p.Tyr23018Asn
NM_133378.4:c.88543T>A (TTN) NP_596869.4:p.Tyr29515Asn
NM_133432.3:c.69427T>A (TTN) NP_597676.3:p.Tyr23143Asn
NM_133437.4:c.69628T>A (TTN) NP_597681.4:p.Tyr23210Asn
NR_038271.1:n.446+20261A>T (TTN-AS1)
NR_038272.1:n.2043+1536A>T (TTN-AS1)
XM_011511729.1:c.95344T>A (TTN) XP_011510031.1:p.Tyr31782Asn
XM_011511730.1:c.69238T>A (TTN) XP_011510032.1:p.Tyr23080Asn
XM_011511731.1:c.69097T>A (TTN) XP_011510033.1:p.Tyr23033Asn
XM_017004819.1:c.95140T>A (TTN) XP_016860308.1:p.Tyr31714Asn
XM_017004820.1:c.90538T>A (TTN) XP_016860309.1:p.Tyr30180Asn
XM_017004821.1:c.90535T>A (TTN) XP_016860310.1:p.Tyr30179Asn
XM_017004822.1:c.87577T>A (TTN) XP_016860311.1:p.Tyr29193Asn
XM_017004823.1:c.69193T>A (TTN) XP_016860312.1:p.Tyr23065Asn
XM_024453094.1:c.90688T>A (TTN) XP_024308862.1:p.Tyr30230Asn
XM_024453095.1:c.90685T>A (TTN) XP_024308863.1:p.Tyr30229Asn
XM_024453096.1:c.90118T>A (TTN) XP_024308864.1:p.Tyr30040Asn
XM_024453097.1:c.87460T>A (TTN) XP_024308865.1:p.Tyr29154Asn
XM_024453098.1:c.87379T>A (TTN) XP_024308866.1:p.Tyr29127Asn
XM_024453099.1:c.69142T>A (TTN) XP_024308867.1:p.Tyr23048Asn
XM_024453100.1:c.58996T>A (TTN) XP_024308868.1:p.Tyr19666Asn