Canonical Allele Identifier: CA349594085

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566382C>A , CM000664.2:g.178566382C>A	GRCh38
NC_000002.11:g.179431109C>A , CM000664.1:g.179431109C>A	GRCh37
NC_000002.10:g.179139355C>A	NCBI36
NG_011618.3:g.269421G>T , LRG_391:g.269421G>T
NG_051363.1:g.48556C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.79750G>T (TTN) MANE Select	NP_001254479.2:p.Glu26584Ter
ENST00000589042.5:c.79750G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26584Ter
NM_001256850.1:c.74827G>T (TTN)	NP_001243779.1:p.Glu24943Ter
NM_003319.4:c.52555G>T (TTN)	NP_003310.4:p.Glu17519Ter
NM_133378.4:c.72046G>T (TTN)	NP_596869.4:p.Glu24016Ter
NM_133432.3:c.52930G>T (TTN)	NP_597676.3:p.Glu17644Ter
NM_133437.4:c.53131G>T (TTN)	NP_597681.4:p.Glu17711Ter
NR_038271.1:n.447-4918C>A (TTN-AS1)
NR_038272.1:n.2044-16190C>A (TTN-AS1)
ENST00000342175.10:c.53131G>T (TTN)	ENSP00000340554.6:p.Glu17711Ter
ENST00000342175.11:c.53131G>T (TTN)	ENSP00000340554.6:p.Glu17711Ter
ENST00000342992.10:c.72046G>T (TTN)	ENSP00000343764.6:p.Glu24016Ter
ENST00000342992.11:c.72046G>T (TTN)	ENSP00000343764.6:p.Glu24016Ter
ENST00000359218.10:c.52930G>T (TTN)	ENSP00000352154.5:p.Glu17644Ter
ENST00000359218.9:c.52930G>T (TTN)	ENSP00000352154.5:p.Glu17644Ter
ENST00000460472.6:c.52555G>T (TTN)	ENSP00000434586.1:p.Glu17519Ter
ENST00000591111.5:c.74827G>T (TTN)	ENSP00000465570.1:p.Glu24943Ter
ENST00000615779.4:c.74827G>T (TTN)	ENSP00000483597.1:p.Glu24943Ter
XM_011511729.1:c.78847G>T (TTN)	XP_011510031.1:p.Glu26283Ter
XM_011511730.1:c.52741G>T (TTN)	XP_011510032.1:p.Glu17581Ter
XM_011511731.1:c.52600G>T (TTN)	XP_011510033.1:p.Glu17534Ter
XM_017004819.1:c.78643G>T (TTN)	XP_016860308.1:p.Glu26215Ter
XM_017004820.1:c.74041G>T (TTN)	XP_016860309.1:p.Glu24681Ter
XM_017004821.1:c.74038G>T (TTN)	XP_016860310.1:p.Glu24680Ter
XM_017004822.1:c.71080G>T (TTN)	XP_016860311.1:p.Glu23694Ter
XM_017004823.1:c.52696G>T (TTN)	XP_016860312.1:p.Glu17566Ter
XM_024453094.1:c.74191G>T (TTN)	XP_024308862.1:p.Glu24731Ter
XM_024453095.1:c.74188G>T (TTN)	XP_024308863.1:p.Glu24730Ter
XM_024453096.1:c.73621G>T (TTN)	XP_024308864.1:p.Glu24541Ter
XM_024453097.1:c.70963G>T (TTN)	XP_024308865.1:p.Glu23655Ter
XM_024453098.1:c.70882G>T (TTN)	XP_024308866.1:p.Glu23628Ter
XM_024453099.1:c.52645G>T (TTN)	XP_024308867.1:p.Glu17549Ter
XM_024453100.1:c.42499G>T (TTN)	XP_024308868.1:p.Glu14167Ter