Canonical Allele Identifier: CA349611907

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178568926-C-T
• MyVariant Identifiers: chr2:g.179433653C>T (hg19) ; chr2:g.178568926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568926C>T , CM000664.2:g.178568926C>T	GRCh38
NC_000002.11:g.179433653C>T , CM000664.1:g.179433653C>T	GRCh37
NC_000002.10:g.179141899C>T	NCBI36
NG_011618.3:g.266877G>A , LRG_391:g.266877G>A
NG_051363.1:g.51100C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69502G>A (TTN)	ENSP00000343764.6:p.Glu23168Lys
ENST00000342175.11:c.50587G>A (TTN)	ENSP00000340554.6:p.Glu16863Lys
ENST00000359218.10:c.50386G>A (TTN)	ENSP00000352154.5:p.Glu16796Lys
ENST00000342175.10:c.50587G>A (TTN)	ENSP00000340554.6:p.Glu16863Lys
ENST00000342992.10:c.69502G>A (TTN)	ENSP00000343764.6:p.Glu23168Lys
ENST00000359218.9:c.50386G>A (TTN)	ENSP00000352154.5:p.Glu16796Lys
ENST00000460472.6:c.50011G>A (TTN)	ENSP00000434586.1:p.Glu16671Lys
ENST00000589042.5:c.77206G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu25736Lys
ENST00000591111.5:c.72283G>A (TTN)	ENSP00000465570.1:p.Glu24095Lys
ENST00000615779.4:c.72283G>A (TTN)	ENSP00000483597.1:p.Glu24095Lys
NM_001256850.1:c.72283G>A (TTN)	NP_001243779.1:p.Glu24095Lys
NM_001267550.2:c.77206G>A (TTN) MANE Select	NP_001254479.2:p.Glu25736Lys
NM_003319.4:c.50011G>A (TTN)	NP_003310.4:p.Glu16671Lys
NM_133378.4:c.69502G>A (TTN)	NP_596869.4:p.Glu23168Lys
NM_133432.3:c.50386G>A (TTN)	NP_597676.3:p.Glu16796Lys
NM_133437.4:c.50587G>A (TTN)	NP_597681.4:p.Glu16863Lys
NR_038271.1:n.447-2374C>T (TTN-AS1)
NR_038272.1:n.2044-13646C>T (TTN-AS1)
XM_011511729.1:c.76303G>A (TTN)	XP_011510031.1:p.Glu25435Lys
XM_011511730.1:c.50197G>A (TTN)	XP_011510032.1:p.Glu16733Lys
XM_011511731.1:c.50056G>A (TTN)	XP_011510033.1:p.Glu16686Lys
XM_017004819.1:c.76099G>A (TTN)	XP_016860308.1:p.Glu25367Lys
XM_017004820.1:c.71497G>A (TTN)	XP_016860309.1:p.Glu23833Lys
XM_017004821.1:c.71494G>A (TTN)	XP_016860310.1:p.Glu23832Lys
XM_017004822.1:c.68536G>A (TTN)	XP_016860311.1:p.Glu22846Lys
XM_017004823.1:c.50152G>A (TTN)	XP_016860312.1:p.Glu16718Lys
XM_024453094.1:c.71647G>A (TTN)	XP_024308862.1:p.Glu23883Lys
XM_024453095.1:c.71644G>A (TTN)	XP_024308863.1:p.Glu23882Lys
XM_024453096.1:c.71077G>A (TTN)	XP_024308864.1:p.Glu23693Lys
XM_024453097.1:c.68419G>A (TTN)	XP_024308865.1:p.Glu22807Lys
XM_024453098.1:c.68338G>A (TTN)	XP_024308866.1:p.Glu22780Lys
XM_024453099.1:c.50101G>A (TTN)	XP_024308867.1:p.Glu16701Lys
XM_024453100.1:c.39955G>A (TTN)	XP_024308868.1:p.Glu13319Lys