Canonical Allele Identifier: CA349459109

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178588814C>A , CM000664.2:g.178588814C>A	GRCh38
NC_000002.11:g.179453541C>A , CM000664.1:g.179453541C>A	GRCh37
NC_000002.10:g.179161787C>A	NCBI36
NG_011618.3:g.246989G>T , LRG_391:g.246989G>T
NG_051363.1:g.70988C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.62911G>T (TTN) MANE Select	NP_001254479.2:p.Glu20971Ter
ENST00000589042.5:c.62911G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu20971Ter
NM_001256850.1:c.57988G>T (TTN)	NP_001243779.1:p.Glu19330Ter
NM_003319.4:c.35716G>T (TTN)	NP_003310.4:p.Glu11906Ter
NM_133378.4:c.55207G>T (TTN)	NP_596869.4:p.Glu18403Ter
NM_133432.3:c.36091G>T (TTN)	NP_597676.3:p.Glu12031Ter
NM_133437.4:c.36292G>T (TTN)	NP_597681.4:p.Glu12098Ter
NR_038271.1:n.597-8782C>A (TTN-AS1)
NR_038272.1:n.3189-2325C>A (TTN-AS1)
ENST00000342175.10:c.36292G>T (TTN)	ENSP00000340554.6:p.Glu12098Ter
ENST00000342175.11:c.36292G>T (TTN)	ENSP00000340554.6:p.Glu12098Ter
ENST00000342992.10:c.55207G>T (TTN)	ENSP00000343764.6:p.Glu18403Ter
ENST00000342992.11:c.55207G>T (TTN)	ENSP00000343764.6:p.Glu18403Ter
ENST00000359218.10:c.36091G>T (TTN)	ENSP00000352154.5:p.Glu12031Ter
ENST00000359218.9:c.36091G>T (TTN)	ENSP00000352154.5:p.Glu12031Ter
ENST00000460472.6:c.35716G>T (TTN)	ENSP00000434586.1:p.Glu11906Ter
ENST00000591111.5:c.57988G>T (TTN)	ENSP00000465570.1:p.Glu19330Ter
ENST00000615779.4:c.57988G>T (TTN)	ENSP00000483597.1:p.Glu19330Ter
XM_011511729.1:c.62008G>T (TTN)	XP_011510031.1:p.Glu20670Ter
XM_011511730.1:c.35902G>T (TTN)	XP_011510032.1:p.Glu11968Ter
XM_011511731.1:c.35761G>T (TTN)	XP_011510033.1:p.Glu11921Ter
XM_017004819.1:c.61804G>T (TTN)	XP_016860308.1:p.Glu20602Ter
XM_017004820.1:c.57202G>T (TTN)	XP_016860309.1:p.Glu19068Ter
XM_017004821.1:c.57199G>T (TTN)	XP_016860310.1:p.Glu19067Ter
XM_017004822.1:c.54241G>T (TTN)	XP_016860311.1:p.Glu18081Ter
XM_017004823.1:c.35857G>T (TTN)	XP_016860312.1:p.Glu11953Ter
XM_024453094.1:c.57352G>T (TTN)	XP_024308862.1:p.Glu19118Ter
XM_024453095.1:c.57349G>T (TTN)	XP_024308863.1:p.Glu19117Ter
XM_024453096.1:c.56782G>T (TTN)	XP_024308864.1:p.Glu18928Ter
XM_024453097.1:c.54124G>T (TTN)	XP_024308865.1:p.Glu18042Ter
XM_024453098.1:c.54043G>T (TTN)	XP_024308866.1:p.Glu18015Ter
XM_024453099.1:c.35806G>T (TTN)	XP_024308867.1:p.Glu11936Ter
XM_024453100.1:c.25660G>T (TTN)	XP_024308868.1:p.Glu8554Ter