Canonical Allele Identifier: CA349638896
Community Standard Title: NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178622729G>A , CM000664.2:g.178622729G>A GRCh38
NC_000002.11:g.179487456G>A , CM000664.1:g.179487456G>A GRCh37
NC_000002.10:g.179195701G>A NCBI36
NG_011618.3:g.213074C>T , LRG_391:g.213074C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44854C>T MANE Select NP_001254479.2:p.Gln14952Ter
ENST00000589042.5:c.44854C>T MANE Select ENSP00000467141.1:p.Gln14952Ter
NM_001256850.1:c.39931C>T NP_001243779.1:p.Gln13311Ter
NM_003319.4:c.17659C>T NP_003310.4:p.Gln5887Ter
NM_133378.4:c.37150C>T NP_596869.4:p.Gln12384Ter
NM_133432.3:c.18034C>T NP_597676.3:p.Gln6012Ter
NM_133437.4:c.18235C>T NP_597681.4:p.Gln6079Ter
ENST00000342175.10:c.18235C>T ENSP00000340554.6:p.Gln6079Ter
ENST00000342175.11:c.18235C>T ENSP00000340554.6:p.Gln6079Ter
ENST00000342992.10:c.37150C>T ENSP00000343764.6:p.Gln12384Ter
ENST00000342992.11:c.37150C>T ENSP00000343764.6:p.Gln12384Ter
ENST00000359218.10:c.18034C>T ENSP00000352154.5:p.Gln6012Ter
ENST00000359218.9:c.18034C>T ENSP00000352154.5:p.Gln6012Ter
ENST00000460472.6:c.17659C>T ENSP00000434586.1:p.Gln5887Ter
ENST00000591111.5:c.39931C>T ENSP00000465570.1:p.Gln13311Ter
ENST00000615779.4:c.39931C>T ENSP00000483597.1:p.Gln13311Ter
XM_011511729.1:c.43951C>T XP_011510031.1:p.Gln14651Ter
XM_011511730.1:c.17845C>T XP_011510032.1:p.Gln5949Ter
XM_011511731.1:c.17704C>T XP_011510033.1:p.Gln5902Ter
XM_017004819.1:c.43747C>T XP_016860308.1:p.Gln14583Ter
XM_017004820.1:c.39145C>T XP_016860309.1:p.Gln13049Ter
XM_017004821.1:c.39142C>T XP_016860310.1:p.Gln13048Ter
XM_017004822.1:c.36184C>T XP_016860311.1:p.Gln12062Ter
XM_017004823.1:c.17800C>T XP_016860312.1:p.Gln5934Ter
XM_024453094.1:c.39295C>T XP_024308862.1:p.Gln13099Ter
XM_024453095.1:c.39292C>T XP_024308863.1:p.Gln13098Ter
XM_024453096.1:c.38725C>T XP_024308864.1:p.Gln12909Ter
XM_024453097.1:c.36067C>T XP_024308865.1:p.Gln12023Ter
XM_024453098.1:c.35986C>T XP_024308866.1:p.Gln11996Ter
XM_024453099.1:c.17749C>T XP_024308867.1:p.Gln5917Ter
XM_024453100.1:c.7603C>T XP_024308868.1:p.Gln2535Ter