Canonical Allele Identifier: CA349633707
Community Standard Title: NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621183T>A , CM000664.2:g.178621183T>A GRCh38
NC_000002.11:g.179485910T>A , CM000664.1:g.179485910T>A GRCh37
NC_000002.10:g.179194155T>A NCBI36
NG_011618.3:g.214620A>T , LRG_391:g.214620A>T
NG_051363.1:g.103357T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45535A>T MANE Select NP_001254479.2:p.Lys15179Ter
ENST00000589042.5:c.45535A>T MANE Select ENSP00000467141.1:p.Lys15179Ter
NM_001256850.1:c.40612A>T NP_001243779.1:p.Lys13538Ter
NM_003319.4:c.18340A>T NP_003310.4:p.Lys6114Ter
NM_133378.4:c.37831A>T NP_596869.4:p.Lys12611Ter
NM_133432.3:c.18715A>T NP_597676.3:p.Lys6239Ter
NM_133437.4:c.18916A>T NP_597681.4:p.Lys6306Ter
ENST00000342175.10:c.18916A>T ENSP00000340554.6:p.Lys6306Ter
ENST00000342175.11:c.18916A>T ENSP00000340554.6:p.Lys6306Ter
ENST00000342992.10:c.37831A>T ENSP00000343764.6:p.Lys12611Ter
ENST00000342992.11:c.37831A>T ENSP00000343764.6:p.Lys12611Ter
ENST00000359218.10:c.18715A>T ENSP00000352154.5:p.Lys6239Ter
ENST00000359218.9:c.18715A>T ENSP00000352154.5:p.Lys6239Ter
ENST00000460472.6:c.18340A>T ENSP00000434586.1:p.Lys6114Ter
ENST00000591111.5:c.40612A>T ENSP00000465570.1:p.Lys13538Ter
ENST00000615779.4:c.40612A>T ENSP00000483597.1:p.Lys13538Ter
XM_011511729.1:c.44632A>T XP_011510031.1:p.Lys14878Ter
XM_011511730.1:c.18526A>T XP_011510032.1:p.Lys6176Ter
XM_011511731.1:c.18385A>T XP_011510033.1:p.Lys6129Ter
XM_017004819.1:c.44428A>T XP_016860308.1:p.Lys14810Ter
XM_017004820.1:c.39826A>T XP_016860309.1:p.Lys13276Ter
XM_017004821.1:c.39823A>T XP_016860310.1:p.Lys13275Ter
XM_017004822.1:c.36865A>T XP_016860311.1:p.Lys12289Ter
XM_017004823.1:c.18481A>T XP_016860312.1:p.Lys6161Ter
XM_024453094.1:c.39976A>T XP_024308862.1:p.Lys13326Ter
XM_024453095.1:c.39973A>T XP_024308863.1:p.Lys13325Ter
XM_024453096.1:c.39406A>T XP_024308864.1:p.Lys13136Ter
XM_024453097.1:c.36748A>T XP_024308865.1:p.Lys12250Ter
XM_024453098.1:c.36667A>T XP_024308866.1:p.Lys12223Ter
XM_024453099.1:c.18430A>T XP_024308867.1:p.Lys6144Ter
XM_024453100.1:c.8284A>T XP_024308868.1:p.Lys2762Ter