Canonical Allele Identifier: CA349450951

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543896T>A , CM000664.2:g.178543896T>A GRCh38
NC_000002.11:g.179408623T>A , CM000664.1:g.179408623T>A GRCh37
NC_000002.10:g.179116869T>A NCBI36
NG_011618.3:g.291907A>T , LRG_391:g.291907A>T
NG_051363.1:g.26070T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88544A>T (TTN) ENSP00000343764.6:p.Tyr29515Phe
ENST00000342175.11:c.69629A>T (TTN) ENSP00000340554.6:p.Tyr23210Phe
ENST00000359218.10:c.69428A>T (TTN) ENSP00000352154.5:p.Tyr23143Phe
ENST00000342175.10:c.69629A>T (TTN) ENSP00000340554.6:p.Tyr23210Phe
ENST00000342992.10:c.88544A>T (TTN) ENSP00000343764.6:p.Tyr29515Phe
ENST00000359218.9:c.69428A>T (TTN) ENSP00000352154.5:p.Tyr23143Phe
ENST00000460472.6:c.69053A>T (TTN) ENSP00000434586.1:p.Tyr23018Phe
ENST00000589042.5:c.96248A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr32083Phe
ENST00000591111.5:c.91325A>T (TTN) ENSP00000465570.1:p.Tyr30442Phe
ENST00000615779.4:c.91325A>T (TTN) ENSP00000483597.1:p.Tyr30442Phe
NM_001256850.1:c.91325A>T (TTN) NP_001243779.1:p.Tyr30442Phe
NM_001267550.2:c.96248A>T (TTN) MANE Select NP_001254479.2:p.Tyr32083Phe
NM_003319.4:c.69053A>T (TTN) NP_003310.4:p.Tyr23018Phe
NM_133378.4:c.88544A>T (TTN) NP_596869.4:p.Tyr29515Phe
NM_133432.3:c.69428A>T (TTN) NP_597676.3:p.Tyr23143Phe
NM_133437.4:c.69629A>T (TTN) NP_597681.4:p.Tyr23210Phe
NR_038271.1:n.446+20260T>A (TTN-AS1)
NR_038272.1:n.2043+1535T>A (TTN-AS1)
XM_011511729.1:c.95345A>T (TTN) XP_011510031.1:p.Tyr31782Phe
XM_011511730.1:c.69239A>T (TTN) XP_011510032.1:p.Tyr23080Phe
XM_011511731.1:c.69098A>T (TTN) XP_011510033.1:p.Tyr23033Phe
XM_017004819.1:c.95141A>T (TTN) XP_016860308.1:p.Tyr31714Phe
XM_017004820.1:c.90539A>T (TTN) XP_016860309.1:p.Tyr30180Phe
XM_017004821.1:c.90536A>T (TTN) XP_016860310.1:p.Tyr30179Phe
XM_017004822.1:c.87578A>T (TTN) XP_016860311.1:p.Tyr29193Phe
XM_017004823.1:c.69194A>T (TTN) XP_016860312.1:p.Tyr23065Phe
XM_024453094.1:c.90689A>T (TTN) XP_024308862.1:p.Tyr30230Phe
XM_024453095.1:c.90686A>T (TTN) XP_024308863.1:p.Tyr30229Phe
XM_024453096.1:c.90119A>T (TTN) XP_024308864.1:p.Tyr30040Phe
XM_024453097.1:c.87461A>T (TTN) XP_024308865.1:p.Tyr29154Phe
XM_024453098.1:c.87380A>T (TTN) XP_024308866.1:p.Tyr29127Phe
XM_024453099.1:c.69143A>T (TTN) XP_024308867.1:p.Tyr23048Phe
XM_024453100.1:c.58997A>T (TTN) XP_024308868.1:p.Tyr19666Phe