Canonical Allele Identifier: CA349660647
Community Standard Title: NM_001267550.2(TTN):c.41321T>G (p.Val13774Gly)
Gene: TTN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41321T>G MANE Select NP_001254479.2:p.Val13774Gly
ENST00000589042.5:c.41321T>G MANE Select ENSP00000467141.1:p.Val13774Gly
NM_001256850.1:c.36398T>G NP_001243779.1:p.Val12133Gly
NM_003319.4:c.14126T>G NP_003310.4:p.Val4709Gly
NM_133378.4:c.33617T>G NP_596869.4:p.Val11206Gly
NM_133432.3:c.14501T>G NP_597676.3:p.Val4834Gly
NM_133437.4:c.14702T>G NP_597681.4:p.Val4901Gly
ENST00000342175.10:c.14702T>G ENSP00000340554.6:p.Val4901Gly
ENST00000342175.11:c.14702T>G ENSP00000340554.6:p.Val4901Gly
ENST00000342992.10:c.33617T>G ENSP00000343764.6:p.Val11206Gly
ENST00000342992.11:c.33617T>G ENSP00000343764.6:p.Val11206Gly
ENST00000359218.10:c.14501T>G ENSP00000352154.5:p.Val4834Gly
ENST00000359218.9:c.14501T>G ENSP00000352154.5:p.Val4834Gly
ENST00000460472.6:c.14126T>G ENSP00000434586.1:p.Val4709Gly
ENST00000591111.5:c.36398T>G ENSP00000465570.1:p.Val12133Gly
ENST00000615779.4:c.36398T>G ENSP00000483597.1:p.Val12133Gly
XM_011511729.1:c.40418T>G XP_011510031.1:p.Val13473Gly
XM_011511730.1:c.14312T>G XP_011510032.1:p.Val4771Gly
XM_011511731.1:c.14171T>G XP_011510033.1:p.Val4724Gly
XM_017004819.1:c.40214T>G XP_016860308.1:p.Val13405Gly
XM_017004820.1:c.35612T>G XP_016860309.1:p.Val11871Gly
XM_017004821.1:c.35609T>G XP_016860310.1:p.Val11870Gly
XM_017004822.1:c.32651T>G XP_016860311.1:p.Val10884Gly
XM_017004823.1:c.14267T>G XP_016860312.1:p.Val4756Gly
XM_024453094.1:c.35762T>G XP_024308862.1:p.Val11921Gly
XM_024453095.1:c.35759T>G XP_024308863.1:p.Val11920Gly
XM_024453096.1:c.35192T>G XP_024308864.1:p.Val11731Gly
XM_024453097.1:c.32534T>G XP_024308865.1:p.Val10845Gly
XM_024453098.1:c.32453T>G XP_024308866.1:p.Val10818Gly
XM_024453099.1:c.14216T>G XP_024308867.1:p.Val4739Gly
XM_024453100.1:c.4070T>G XP_024308868.1:p.Val1357Gly