Canonical Allele Identifier: CA349631872
Community Standard Title: NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620841G>A , CM000664.2:g.178620841G>A GRCh38
NC_000002.11:g.179485568G>A , CM000664.1:g.179485568G>A GRCh37
NC_000002.10:g.179193813G>A NCBI36
NG_011618.3:g.214962C>T , LRG_391:g.214962C>T
NG_051363.1:g.103015G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45769C>T MANE Select NP_001254479.2:p.Gln15257Ter
ENST00000589042.5:c.45769C>T MANE Select ENSP00000467141.1:p.Gln15257Ter
NM_001256850.1:c.40846C>T NP_001243779.1:p.Gln13616Ter
NM_003319.4:c.18574C>T NP_003310.4:p.Gln6192Ter
NM_133378.4:c.38065C>T NP_596869.4:p.Gln12689Ter
NM_133432.3:c.18949C>T NP_597676.3:p.Gln6317Ter
NM_133437.4:c.19150C>T NP_597681.4:p.Gln6384Ter
ENST00000342175.10:c.19150C>T ENSP00000340554.6:p.Gln6384Ter
ENST00000342175.11:c.19150C>T ENSP00000340554.6:p.Gln6384Ter
ENST00000342992.10:c.38065C>T ENSP00000343764.6:p.Gln12689Ter
ENST00000342992.11:c.38065C>T ENSP00000343764.6:p.Gln12689Ter
ENST00000359218.10:c.18949C>T ENSP00000352154.5:p.Gln6317Ter
ENST00000359218.9:c.18949C>T ENSP00000352154.5:p.Gln6317Ter
ENST00000460472.6:c.18574C>T ENSP00000434586.1:p.Gln6192Ter
ENST00000591111.5:c.40846C>T ENSP00000465570.1:p.Gln13616Ter
ENST00000615779.4:c.40846C>T ENSP00000483597.1:p.Gln13616Ter
XM_011511729.1:c.44866C>T XP_011510031.1:p.Gln14956Ter
XM_011511730.1:c.18760C>T XP_011510032.1:p.Gln6254Ter
XM_011511731.1:c.18619C>T XP_011510033.1:p.Gln6207Ter
XM_017004819.1:c.44662C>T XP_016860308.1:p.Gln14888Ter
XM_017004820.1:c.40060C>T XP_016860309.1:p.Gln13354Ter
XM_017004821.1:c.40057C>T XP_016860310.1:p.Gln13353Ter
XM_017004822.1:c.37099C>T XP_016860311.1:p.Gln12367Ter
XM_017004823.1:c.18715C>T XP_016860312.1:p.Gln6239Ter
XM_024453094.1:c.40210C>T XP_024308862.1:p.Gln13404Ter
XM_024453095.1:c.40207C>T XP_024308863.1:p.Gln13403Ter
XM_024453096.1:c.39640C>T XP_024308864.1:p.Gln13214Ter
XM_024453097.1:c.36982C>T XP_024308865.1:p.Gln12328Ter
XM_024453098.1:c.36901C>T XP_024308866.1:p.Gln12301Ter
XM_024453099.1:c.18664C>T XP_024308867.1:p.Gln6222Ter
XM_024453100.1:c.8518C>T XP_024308868.1:p.Gln2840Ter