Canonical Allele Identifier: CA349435931

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449293T>A (hg19) ; chr2:g.178584566T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584566T>A , CM000664.2:g.178584566T>A	GRCh38
NC_000002.11:g.179449293T>A , CM000664.1:g.179449293T>A	GRCh37
NC_000002.10:g.179157539T>A	NCBI36
NG_011618.3:g.251237A>T , LRG_391:g.251237A>T
NG_051363.1:g.66740T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57281A>T (TTN)	ENSP00000343764.6:p.Glu19094Val
ENST00000342175.11:c.38366A>T (TTN)	ENSP00000340554.6:p.Glu12789Val
ENST00000359218.10:c.38165A>T (TTN)	ENSP00000352154.5:p.Glu12722Val
ENST00000342175.10:c.38366A>T (TTN)	ENSP00000340554.6:p.Glu12789Val
ENST00000342992.10:c.57281A>T (TTN)	ENSP00000343764.6:p.Glu19094Val
ENST00000359218.9:c.38165A>T (TTN)	ENSP00000352154.5:p.Glu12722Val
ENST00000460472.6:c.37790A>T (TTN)	ENSP00000434586.1:p.Glu12597Val
ENST00000589042.5:c.64985A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu21662Val
ENST00000591111.5:c.60062A>T (TTN)	ENSP00000465570.1:p.Glu20021Val
ENST00000615779.4:c.60062A>T (TTN)	ENSP00000483597.1:p.Glu20021Val
NM_001256850.1:c.60062A>T (TTN)	NP_001243779.1:p.Glu20021Val
NM_001267550.2:c.64985A>T (TTN) MANE Select	NP_001254479.2:p.Glu21662Val
NM_003319.4:c.37790A>T (TTN)	NP_003310.4:p.Glu12597Val
NM_133378.4:c.57281A>T (TTN)	NP_596869.4:p.Glu19094Val
NM_133432.3:c.38165A>T (TTN)	NP_597676.3:p.Glu12722Val
NM_133437.4:c.38366A>T (TTN)	NP_597681.4:p.Glu12789Val
NR_038271.1:n.597-13030T>A (TTN-AS1)
NR_038272.1:n.2768-7T>A (TTN-AS1)
XM_011511729.1:c.64082A>T (TTN)	XP_011510031.1:p.Glu21361Val
XM_011511730.1:c.37976A>T (TTN)	XP_011510032.1:p.Glu12659Val
XM_011511731.1:c.37835A>T (TTN)	XP_011510033.1:p.Glu12612Val
XM_017004819.1:c.63878A>T (TTN)	XP_016860308.1:p.Glu21293Val
XM_017004820.1:c.59276A>T (TTN)	XP_016860309.1:p.Glu19759Val
XM_017004821.1:c.59273A>T (TTN)	XP_016860310.1:p.Glu19758Val
XM_017004822.1:c.56315A>T (TTN)	XP_016860311.1:p.Glu18772Val
XM_017004823.1:c.37931A>T (TTN)	XP_016860312.1:p.Glu12644Val
XM_024453094.1:c.59426A>T (TTN)	XP_024308862.1:p.Glu19809Val
XM_024453095.1:c.59423A>T (TTN)	XP_024308863.1:p.Glu19808Val
XM_024453096.1:c.58856A>T (TTN)	XP_024308864.1:p.Glu19619Val
XM_024453097.1:c.56198A>T (TTN)	XP_024308865.1:p.Glu18733Val
XM_024453098.1:c.56117A>T (TTN)	XP_024308866.1:p.Glu18706Val
XM_024453099.1:c.37880A>T (TTN)	XP_024308867.1:p.Glu12627Val
XM_024453100.1:c.27734A>T (TTN)	XP_024308868.1:p.Glu9245Val