Canonical Allele Identifier: CA349611403

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433565T>G (hg19) ; chr2:g.178568838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568838T>G , CM000664.2:g.178568838T>G	GRCh38
NC_000002.11:g.179433565T>G , CM000664.1:g.179433565T>G	GRCh37
NC_000002.10:g.179141811T>G	NCBI36
NG_011618.3:g.266965A>C , LRG_391:g.266965A>C
NG_051363.1:g.51012T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69590A>C (TTN)	ENSP00000343764.6:p.Glu23197Ala
ENST00000342175.11:c.50675A>C (TTN)	ENSP00000340554.6:p.Glu16892Ala
ENST00000359218.10:c.50474A>C (TTN)	ENSP00000352154.5:p.Glu16825Ala
ENST00000342175.10:c.50675A>C (TTN)	ENSP00000340554.6:p.Glu16892Ala
ENST00000342992.10:c.69590A>C (TTN)	ENSP00000343764.6:p.Glu23197Ala
ENST00000359218.9:c.50474A>C (TTN)	ENSP00000352154.5:p.Glu16825Ala
ENST00000460472.6:c.50099A>C (TTN)	ENSP00000434586.1:p.Glu16700Ala
ENST00000589042.5:c.77294A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu25765Ala
ENST00000591111.5:c.72371A>C (TTN)	ENSP00000465570.1:p.Glu24124Ala
ENST00000615779.4:c.72371A>C (TTN)	ENSP00000483597.1:p.Glu24124Ala
NM_001256850.1:c.72371A>C (TTN)	NP_001243779.1:p.Glu24124Ala
NM_001267550.2:c.77294A>C (TTN) MANE Select	NP_001254479.2:p.Glu25765Ala
NM_003319.4:c.50099A>C (TTN)	NP_003310.4:p.Glu16700Ala
NM_133378.4:c.69590A>C (TTN)	NP_596869.4:p.Glu23197Ala
NM_133432.3:c.50474A>C (TTN)	NP_597676.3:p.Glu16825Ala
NM_133437.4:c.50675A>C (TTN)	NP_597681.4:p.Glu16892Ala
NR_038271.1:n.447-2462T>G (TTN-AS1)
NR_038272.1:n.2044-13734T>G (TTN-AS1)
XM_011511729.1:c.76391A>C (TTN)	XP_011510031.1:p.Glu25464Ala
XM_011511730.1:c.50285A>C (TTN)	XP_011510032.1:p.Glu16762Ala
XM_011511731.1:c.50144A>C (TTN)	XP_011510033.1:p.Glu16715Ala
XM_017004819.1:c.76187A>C (TTN)	XP_016860308.1:p.Glu25396Ala
XM_017004820.1:c.71585A>C (TTN)	XP_016860309.1:p.Glu23862Ala
XM_017004821.1:c.71582A>C (TTN)	XP_016860310.1:p.Glu23861Ala
XM_017004822.1:c.68624A>C (TTN)	XP_016860311.1:p.Glu22875Ala
XM_017004823.1:c.50240A>C (TTN)	XP_016860312.1:p.Glu16747Ala
XM_024453094.1:c.71735A>C (TTN)	XP_024308862.1:p.Glu23912Ala
XM_024453095.1:c.71732A>C (TTN)	XP_024308863.1:p.Glu23911Ala
XM_024453096.1:c.71165A>C (TTN)	XP_024308864.1:p.Glu23722Ala
XM_024453097.1:c.68507A>C (TTN)	XP_024308865.1:p.Glu22836Ala
XM_024453098.1:c.68426A>C (TTN)	XP_024308866.1:p.Glu22809Ala
XM_024453099.1:c.50189A>C (TTN)	XP_024308867.1:p.Glu16730Ala
XM_024453100.1:c.40043A>C (TTN)	XP_024308868.1:p.Glu13348Ala