Canonical Allele Identifier: CA349628436
Community Standard Title: NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620284G>A , CM000664.2:g.178620284G>A GRCh38
NC_000002.11:g.179485011G>A , CM000664.1:g.179485011G>A GRCh37
NC_000002.10:g.179193256G>A NCBI36
NG_011618.3:g.215519C>T , LRG_391:g.215519C>T
NG_051363.1:g.102458G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46237C>T MANE Select NP_001254479.2:p.Gln15413Ter
ENST00000589042.5:c.46237C>T MANE Select ENSP00000467141.1:p.Gln15413Ter
NM_001256850.1:c.41314C>T NP_001243779.1:p.Gln13772Ter
NM_003319.4:c.19042C>T NP_003310.4:p.Gln6348Ter
NM_133378.4:c.38533C>T NP_596869.4:p.Gln12845Ter
NM_133432.3:c.19417C>T NP_597676.3:p.Gln6473Ter
NM_133437.4:c.19618C>T NP_597681.4:p.Gln6540Ter
ENST00000342175.10:c.19618C>T ENSP00000340554.6:p.Gln6540Ter
ENST00000342175.11:c.19618C>T ENSP00000340554.6:p.Gln6540Ter
ENST00000342992.10:c.38533C>T ENSP00000343764.6:p.Gln12845Ter
ENST00000342992.11:c.38533C>T ENSP00000343764.6:p.Gln12845Ter
ENST00000359218.10:c.19417C>T ENSP00000352154.5:p.Gln6473Ter
ENST00000359218.9:c.19417C>T ENSP00000352154.5:p.Gln6473Ter
ENST00000460472.6:c.19042C>T ENSP00000434586.1:p.Gln6348Ter
ENST00000591111.5:c.41314C>T ENSP00000465570.1:p.Gln13772Ter
ENST00000615779.4:c.41314C>T ENSP00000483597.1:p.Gln13772Ter
XM_011511729.1:c.45334C>T XP_011510031.1:p.Gln15112Ter
XM_011511730.1:c.19228C>T XP_011510032.1:p.Gln6410Ter
XM_011511731.1:c.19087C>T XP_011510033.1:p.Gln6363Ter
XM_017004819.1:c.45130C>T XP_016860308.1:p.Gln15044Ter
XM_017004820.1:c.40528C>T XP_016860309.1:p.Gln13510Ter
XM_017004821.1:c.40525C>T XP_016860310.1:p.Gln13509Ter
XM_017004822.1:c.37567C>T XP_016860311.1:p.Gln12523Ter
XM_017004823.1:c.19183C>T XP_016860312.1:p.Gln6395Ter
XM_024453094.1:c.40678C>T XP_024308862.1:p.Gln13560Ter
XM_024453095.1:c.40675C>T XP_024308863.1:p.Gln13559Ter
XM_024453096.1:c.40108C>T XP_024308864.1:p.Gln13370Ter
XM_024453097.1:c.37450C>T XP_024308865.1:p.Gln12484Ter
XM_024453098.1:c.37369C>T XP_024308866.1:p.Gln12457Ter
XM_024453099.1:c.19132C>T XP_024308867.1:p.Gln6378Ter
XM_024453100.1:c.8986C>T XP_024308868.1:p.Gln2996Ter