Canonical Allele Identifier: CA349582717

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564933G>A , CM000664.2:g.178564933G>A	GRCh38
NC_000002.11:g.179429660G>A , CM000664.1:g.179429660G>A	GRCh37
NC_000002.10:g.179137906G>A	NCBI36
NG_011618.3:g.270870C>T , LRG_391:g.270870C>T
NG_051363.1:g.47107G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.81199C>T (TTN) MANE Select	NP_001254479.2:p.Gln27067Ter
ENST00000589042.5:c.81199C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln27067Ter
NM_001256850.1:c.76276C>T (TTN)	NP_001243779.1:p.Gln25426Ter
NM_003319.4:c.54004C>T (TTN)	NP_003310.4:p.Gln18002Ter
NM_133378.4:c.73495C>T (TTN)	NP_596869.4:p.Gln24499Ter
NM_133432.3:c.54379C>T (TTN)	NP_597676.3:p.Gln18127Ter
NM_133437.4:c.54580C>T (TTN)	NP_597681.4:p.Gln18194Ter
NR_038271.1:n.447-6367G>A (TTN-AS1)
NR_038272.1:n.2044-17639G>A (TTN-AS1)
ENST00000342175.10:c.54580C>T (TTN)	ENSP00000340554.6:p.Gln18194Ter
ENST00000342175.11:c.54580C>T (TTN)	ENSP00000340554.6:p.Gln18194Ter
ENST00000342992.10:c.73495C>T (TTN)	ENSP00000343764.6:p.Gln24499Ter
ENST00000342992.11:c.73495C>T (TTN)	ENSP00000343764.6:p.Gln24499Ter
ENST00000359218.10:c.54379C>T (TTN)	ENSP00000352154.5:p.Gln18127Ter
ENST00000359218.9:c.54379C>T (TTN)	ENSP00000352154.5:p.Gln18127Ter
ENST00000460472.6:c.54004C>T (TTN)	ENSP00000434586.1:p.Gln18002Ter
ENST00000591111.5:c.76276C>T (TTN)	ENSP00000465570.1:p.Gln25426Ter
ENST00000615779.4:c.76276C>T (TTN)	ENSP00000483597.1:p.Gln25426Ter
XM_011511729.1:c.80296C>T (TTN)	XP_011510031.1:p.Gln26766Ter
XM_011511730.1:c.54190C>T (TTN)	XP_011510032.1:p.Gln18064Ter
XM_011511731.1:c.54049C>T (TTN)	XP_011510033.1:p.Gln18017Ter
XM_017004819.1:c.80092C>T (TTN)	XP_016860308.1:p.Gln26698Ter
XM_017004820.1:c.75490C>T (TTN)	XP_016860309.1:p.Gln25164Ter
XM_017004821.1:c.75487C>T (TTN)	XP_016860310.1:p.Gln25163Ter
XM_017004822.1:c.72529C>T (TTN)	XP_016860311.1:p.Gln24177Ter
XM_017004823.1:c.54145C>T (TTN)	XP_016860312.1:p.Gln18049Ter
XM_024453094.1:c.75640C>T (TTN)	XP_024308862.1:p.Gln25214Ter
XM_024453095.1:c.75637C>T (TTN)	XP_024308863.1:p.Gln25213Ter
XM_024453096.1:c.75070C>T (TTN)	XP_024308864.1:p.Gln25024Ter
XM_024453097.1:c.72412C>T (TTN)	XP_024308865.1:p.Gln24138Ter
XM_024453098.1:c.72331C>T (TTN)	XP_024308866.1:p.Gln24111Ter
XM_024453099.1:c.54094C>T (TTN)	XP_024308867.1:p.Gln18032Ter
XM_024453100.1:c.43948C>T (TTN)	XP_024308868.1:p.Gln14650Ter