Canonical Allele Identifier: CA349646666
Community Standard Title: NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631088G>A , CM000664.2:g.178631088G>A GRCh38
NC_000002.11:g.179495815G>A , CM000664.1:g.179495815G>A GRCh37
NC_000002.10:g.179204060G>A NCBI36
NG_011618.3:g.204715C>T , LRG_391:g.204715C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43960C>T MANE Select NP_001254479.2:p.Gln14654Ter
ENST00000589042.5:c.43960C>T MANE Select ENSP00000467141.1:p.Gln14654Ter
NM_001256850.1:c.39037C>T NP_001243779.1:p.Gln13013Ter
NM_003319.4:c.16765C>T NP_003310.4:p.Gln5589Ter
NM_133378.4:c.36256C>T NP_596869.4:p.Gln12086Ter
NM_133432.3:c.17140C>T NP_597676.3:p.Gln5714Ter
NM_133437.4:c.17341C>T NP_597681.4:p.Gln5781Ter
ENST00000342175.10:c.17341C>T ENSP00000340554.6:p.Gln5781Ter
ENST00000342175.11:c.17341C>T ENSP00000340554.6:p.Gln5781Ter
ENST00000342992.10:c.36256C>T ENSP00000343764.6:p.Gln12086Ter
ENST00000342992.11:c.36256C>T ENSP00000343764.6:p.Gln12086Ter
ENST00000359218.10:c.17140C>T ENSP00000352154.5:p.Gln5714Ter
ENST00000359218.9:c.17140C>T ENSP00000352154.5:p.Gln5714Ter
ENST00000460472.6:c.16765C>T ENSP00000434586.1:p.Gln5589Ter
ENST00000591111.5:c.39037C>T ENSP00000465570.1:p.Gln13013Ter
ENST00000615779.4:c.39037C>T ENSP00000483597.1:p.Gln13013Ter
XM_011511729.1:c.43057C>T XP_011510031.1:p.Gln14353Ter
XM_011511730.1:c.16951C>T XP_011510032.1:p.Gln5651Ter
XM_011511731.1:c.16810C>T XP_011510033.1:p.Gln5604Ter
XM_017004819.1:c.42853C>T XP_016860308.1:p.Gln14285Ter
XM_017004820.1:c.38251C>T XP_016860309.1:p.Gln12751Ter
XM_017004821.1:c.38248C>T XP_016860310.1:p.Gln12750Ter
XM_017004822.1:c.35290C>T XP_016860311.1:p.Gln11764Ter
XM_017004823.1:c.16906C>T XP_016860312.1:p.Gln5636Ter
XM_024453094.1:c.38401C>T XP_024308862.1:p.Gln12801Ter
XM_024453095.1:c.38398C>T XP_024308863.1:p.Gln12800Ter
XM_024453096.1:c.37831C>T XP_024308864.1:p.Gln12611Ter
XM_024453097.1:c.35173C>T XP_024308865.1:p.Gln11725Ter
XM_024453098.1:c.35092C>T XP_024308866.1:p.Gln11698Ter
XM_024453099.1:c.16855C>T XP_024308867.1:p.Gln5619Ter
XM_024453100.1:c.6709C>T XP_024308868.1:p.Gln2237Ter