Canonical Allele Identifier: CA349637558

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572445T>A , CM000664.2:g.178572445T>A	GRCh38
NC_000002.11:g.179437172T>A , CM000664.1:g.179437172T>A	GRCh37
NC_000002.10:g.179145418T>A	NCBI36
NG_011618.3:g.263358A>T , LRG_391:g.263358A>T
NG_051363.1:g.54619T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.73687A>T (TTN) MANE Select	NP_001254479.2:p.Arg24563Ter
ENST00000589042.5:c.73687A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg24563Ter
NM_001256850.1:c.68764A>T (TTN)	NP_001243779.1:p.Arg22922Ter
NM_003319.4:c.46492A>T (TTN)	NP_003310.4:p.Arg15498Ter
NM_133378.4:c.65983A>T (TTN)	NP_596869.4:p.Arg21995Ter
NM_133432.3:c.46867A>T (TTN)	NP_597676.3:p.Arg15623Ter
NM_133437.4:c.47068A>T (TTN)	NP_597681.4:p.Arg15690Ter
NR_038271.1:n.596+996T>A (TTN-AS1)
NR_038272.1:n.2044-10127T>A (TTN-AS1)
ENST00000342175.10:c.47068A>T (TTN)	ENSP00000340554.6:p.Arg15690Ter
ENST00000342175.11:c.47068A>T (TTN)	ENSP00000340554.6:p.Arg15690Ter
ENST00000342992.10:c.65983A>T (TTN)	ENSP00000343764.6:p.Arg21995Ter
ENST00000342992.11:c.65983A>T (TTN)	ENSP00000343764.6:p.Arg21995Ter
ENST00000359218.10:c.46867A>T (TTN)	ENSP00000352154.5:p.Arg15623Ter
ENST00000359218.9:c.46867A>T (TTN)	ENSP00000352154.5:p.Arg15623Ter
ENST00000460472.6:c.46492A>T (TTN)	ENSP00000434586.1:p.Arg15498Ter
ENST00000591111.5:c.68764A>T (TTN)	ENSP00000465570.1:p.Arg22922Ter
ENST00000615779.4:c.68764A>T (TTN)	ENSP00000483597.1:p.Arg22922Ter
XM_011511729.1:c.72784A>T (TTN)	XP_011510031.1:p.Arg24262Ter
XM_011511730.1:c.46678A>T (TTN)	XP_011510032.1:p.Arg15560Ter
XM_011511731.1:c.46537A>T (TTN)	XP_011510033.1:p.Arg15513Ter
XM_017004819.1:c.72580A>T (TTN)	XP_016860308.1:p.Arg24194Ter
XM_017004820.1:c.67978A>T (TTN)	XP_016860309.1:p.Arg22660Ter
XM_017004821.1:c.67975A>T (TTN)	XP_016860310.1:p.Arg22659Ter
XM_017004822.1:c.65017A>T (TTN)	XP_016860311.1:p.Arg21673Ter
XM_017004823.1:c.46633A>T (TTN)	XP_016860312.1:p.Arg15545Ter
XM_024453094.1:c.68128A>T (TTN)	XP_024308862.1:p.Arg22710Ter
XM_024453095.1:c.68125A>T (TTN)	XP_024308863.1:p.Arg22709Ter
XM_024453096.1:c.67558A>T (TTN)	XP_024308864.1:p.Arg22520Ter
XM_024453097.1:c.64900A>T (TTN)	XP_024308865.1:p.Arg21634Ter
XM_024453098.1:c.64819A>T (TTN)	XP_024308866.1:p.Arg21607Ter
XM_024453099.1:c.46582A>T (TTN)	XP_024308867.1:p.Arg15528Ter
XM_024453100.1:c.36436A>T (TTN)	XP_024308868.1:p.Arg12146Ter