Canonical Allele Identifier: CA349660652
Community Standard Title: NM_001267550.2(TTN):c.41321T>A (p.Val13774Asp)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636406A>T , CM000664.2:g.178636406A>T GRCh38
NC_000002.11:g.179501133A>T , CM000664.1:g.179501133A>T GRCh37
NC_000002.10:g.179209378A>T NCBI36
NG_011618.3:g.199397T>A , LRG_391:g.199397T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41321T>A MANE Select NP_001254479.2:p.Val13774Asp
ENST00000589042.5:c.41321T>A MANE Select ENSP00000467141.1:p.Val13774Asp
NM_001256850.1:c.36398T>A NP_001243779.1:p.Val12133Asp
NM_003319.4:c.14126T>A NP_003310.4:p.Val4709Asp
NM_133378.4:c.33617T>A NP_596869.4:p.Val11206Asp
NM_133432.3:c.14501T>A NP_597676.3:p.Val4834Asp
NM_133437.4:c.14702T>A NP_597681.4:p.Val4901Asp
ENST00000342175.10:c.14702T>A ENSP00000340554.6:p.Val4901Asp
ENST00000342175.11:c.14702T>A ENSP00000340554.6:p.Val4901Asp
ENST00000342992.10:c.33617T>A ENSP00000343764.6:p.Val11206Asp
ENST00000342992.11:c.33617T>A ENSP00000343764.6:p.Val11206Asp
ENST00000359218.10:c.14501T>A ENSP00000352154.5:p.Val4834Asp
ENST00000359218.9:c.14501T>A ENSP00000352154.5:p.Val4834Asp
ENST00000460472.6:c.14126T>A ENSP00000434586.1:p.Val4709Asp
ENST00000591111.5:c.36398T>A ENSP00000465570.1:p.Val12133Asp
ENST00000615779.4:c.36398T>A ENSP00000483597.1:p.Val12133Asp
XM_011511729.1:c.40418T>A XP_011510031.1:p.Val13473Asp
XM_011511730.1:c.14312T>A XP_011510032.1:p.Val4771Asp
XM_011511731.1:c.14171T>A XP_011510033.1:p.Val4724Asp
XM_017004819.1:c.40214T>A XP_016860308.1:p.Val13405Asp
XM_017004820.1:c.35612T>A XP_016860309.1:p.Val11871Asp
XM_017004821.1:c.35609T>A XP_016860310.1:p.Val11870Asp
XM_017004822.1:c.32651T>A XP_016860311.1:p.Val10884Asp
XM_017004823.1:c.14267T>A XP_016860312.1:p.Val4756Asp
XM_024453094.1:c.35762T>A XP_024308862.1:p.Val11921Asp
XM_024453095.1:c.35759T>A XP_024308863.1:p.Val11920Asp
XM_024453096.1:c.35192T>A XP_024308864.1:p.Val11731Asp
XM_024453097.1:c.32534T>A XP_024308865.1:p.Val10845Asp
XM_024453098.1:c.32453T>A XP_024308866.1:p.Val10818Asp
XM_024453099.1:c.14216T>A XP_024308867.1:p.Val4739Asp
XM_024453100.1:c.4070T>A XP_024308868.1:p.Val1357Asp