Canonical Allele Identifier: CA349600686
Community Standard Title: NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612858G>T , CM000664.2:g.178612858G>T GRCh38
NC_000002.11:g.179477585G>T , CM000664.1:g.179477585G>T GRCh37
NC_000002.10:g.179185830G>T NCBI36
NG_011618.3:g.222945C>A , LRG_391:g.222945C>A
NG_051363.1:g.95032G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49863C>A (TTN) MANE Select NP_001254479.2:p.Tyr16621Ter
ENST00000589042.5:c.49863C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr16621Ter
NM_001256850.1:c.44940C>A (TTN) NP_001243779.1:p.Tyr14980Ter
NM_003319.4:c.22668C>A (TTN) NP_003310.4:p.Tyr7556Ter
NM_133378.4:c.42159C>A (TTN) NP_596869.4:p.Tyr14053Ter
NM_133432.3:c.23043C>A (TTN) NP_597676.3:p.Tyr7681Ter
NM_133437.4:c.23244C>A (TTN) NP_597681.4:p.Tyr7748Ter
NR_038271.1:n.783-1177G>T (TTN-AS1)
ENST00000342175.10:c.23244C>A (TTN) ENSP00000340554.6:p.Tyr7748Ter
ENST00000342175.11:c.23244C>A (TTN) ENSP00000340554.6:p.Tyr7748Ter
ENST00000342992.10:c.42159C>A (TTN) ENSP00000343764.6:p.Tyr14053Ter
ENST00000342992.11:c.42159C>A (TTN) ENSP00000343764.6:p.Tyr14053Ter
ENST00000359218.10:c.23043C>A (TTN) ENSP00000352154.5:p.Tyr7681Ter
ENST00000359218.9:c.23043C>A (TTN) ENSP00000352154.5:p.Tyr7681Ter
ENST00000460472.6:c.22668C>A (TTN) ENSP00000434586.1:p.Tyr7556Ter
ENST00000591111.5:c.44940C>A (TTN) ENSP00000465570.1:p.Tyr14980Ter
ENST00000615779.4:c.44940C>A (TTN) ENSP00000483597.1:p.Tyr14980Ter
XM_011511729.1:c.48960C>A (TTN) XP_011510031.1:p.Tyr16320Ter
XM_011511730.1:c.22854C>A (TTN) XP_011510032.1:p.Tyr7618Ter
XM_011511731.1:c.22713C>A (TTN) XP_011510033.1:p.Tyr7571Ter
XM_017004819.1:c.48756C>A (TTN) XP_016860308.1:p.Tyr16252Ter
XM_017004820.1:c.44154C>A (TTN) XP_016860309.1:p.Tyr14718Ter
XM_017004821.1:c.44151C>A (TTN) XP_016860310.1:p.Tyr14717Ter
XM_017004822.1:c.41193C>A (TTN) XP_016860311.1:p.Tyr13731Ter
XM_017004823.1:c.22809C>A (TTN) XP_016860312.1:p.Tyr7603Ter
XM_024453094.1:c.44304C>A (TTN) XP_024308862.1:p.Tyr14768Ter
XM_024453095.1:c.44301C>A (TTN) XP_024308863.1:p.Tyr14767Ter
XM_024453096.1:c.43734C>A (TTN) XP_024308864.1:p.Tyr14578Ter
XM_024453097.1:c.41076C>A (TTN) XP_024308865.1:p.Tyr13692Ter
XM_024453098.1:c.40995C>A (TTN) XP_024308866.1:p.Tyr13665Ter
XM_024453099.1:c.22758C>A (TTN) XP_024308867.1:p.Tyr7586Ter
XM_024453100.1:c.12612C>A (TTN) XP_024308868.1:p.Tyr4204Ter