Canonical Allele Identifier: CA349551952

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179425249A>T (hg19) ; chr2:g.178560522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560522A>T , CM000664.2:g.178560522A>T	GRCh38
NC_000002.11:g.179425249A>T , CM000664.1:g.179425249A>T	GRCh37
NC_000002.10:g.179133495A>T	NCBI36
NG_011618.3:g.275281T>A , LRG_391:g.275281T>A
NG_051363.1:g.42696A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.77906T>A (TTN)	ENSP00000343764.6:p.Leu25969Gln
ENST00000342175.11:c.58991T>A (TTN)	ENSP00000340554.6:p.Leu19664Gln
ENST00000359218.10:c.58790T>A (TTN)	ENSP00000352154.5:p.Leu19597Gln
ENST00000342175.10:c.58991T>A (TTN)	ENSP00000340554.6:p.Leu19664Gln
ENST00000342992.10:c.77906T>A (TTN)	ENSP00000343764.6:p.Leu25969Gln
ENST00000359218.9:c.58790T>A (TTN)	ENSP00000352154.5:p.Leu19597Gln
ENST00000460472.6:c.58415T>A (TTN)	ENSP00000434586.1:p.Leu19472Gln
ENST00000589042.5:c.85610T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu28537Gln
ENST00000591111.5:c.80687T>A (TTN)	ENSP00000465570.1:p.Leu26896Gln
ENST00000615779.4:c.80687T>A (TTN)	ENSP00000483597.1:p.Leu26896Gln
NM_001256850.1:c.80687T>A (TTN)	NP_001243779.1:p.Leu26896Gln
NM_001267550.2:c.85610T>A (TTN) MANE Select	NP_001254479.2:p.Leu28537Gln
NM_003319.4:c.58415T>A (TTN)	NP_003310.4:p.Leu19472Gln
NM_133378.4:c.77906T>A (TTN)	NP_596869.4:p.Leu25969Gln
NM_133432.3:c.58790T>A (TTN)	NP_597676.3:p.Leu19597Gln
NM_133437.4:c.58991T>A (TTN)	NP_597681.4:p.Leu19664Gln
NR_038271.1:n.447-10778A>T (TTN-AS1)
NR_038272.1:n.2043+18161A>T (TTN-AS1)
XM_011511729.1:c.84707T>A (TTN)	XP_011510031.1:p.Leu28236Gln
XM_011511730.1:c.58601T>A (TTN)	XP_011510032.1:p.Leu19534Gln
XM_011511731.1:c.58460T>A (TTN)	XP_011510033.1:p.Leu19487Gln
XM_017004819.1:c.84503T>A (TTN)	XP_016860308.1:p.Leu28168Gln
XM_017004820.1:c.79901T>A (TTN)	XP_016860309.1:p.Leu26634Gln
XM_017004821.1:c.79898T>A (TTN)	XP_016860310.1:p.Leu26633Gln
XM_017004822.1:c.76940T>A (TTN)	XP_016860311.1:p.Leu25647Gln
XM_017004823.1:c.58556T>A (TTN)	XP_016860312.1:p.Leu19519Gln
XM_024453094.1:c.80051T>A (TTN)	XP_024308862.1:p.Leu26684Gln
XM_024453095.1:c.80048T>A (TTN)	XP_024308863.1:p.Leu26683Gln
XM_024453096.1:c.79481T>A (TTN)	XP_024308864.1:p.Leu26494Gln
XM_024453097.1:c.76823T>A (TTN)	XP_024308865.1:p.Leu25608Gln
XM_024453098.1:c.76742T>A (TTN)	XP_024308866.1:p.Leu25581Gln
XM_024453099.1:c.58505T>A (TTN)	XP_024308867.1:p.Leu19502Gln
XM_024453100.1:c.48359T>A (TTN)	XP_024308868.1:p.Leu16120Gln