Canonical Allele Identifier: CA349647803

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438600G>T (hg19) ; chr2:g.178573873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573873G>T , CM000664.2:g.178573873G>T	GRCh38
NC_000002.11:g.179438600G>T , CM000664.1:g.179438600G>T	GRCh37
NC_000002.10:g.179146846G>T	NCBI36
NG_011618.3:g.261930C>A , LRG_391:g.261930C>A
NG_051363.1:g.56047G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64555C>A (TTN)	ENSP00000343764.6:p.Leu21519Met
ENST00000342175.11:c.45640C>A (TTN)	ENSP00000340554.6:p.Leu15214Met
ENST00000359218.10:c.45439C>A (TTN)	ENSP00000352154.5:p.Leu15147Met
ENST00000342175.10:c.45640C>A (TTN)	ENSP00000340554.6:p.Leu15214Met
ENST00000342992.10:c.64555C>A (TTN)	ENSP00000343764.6:p.Leu21519Met
ENST00000359218.9:c.45439C>A (TTN)	ENSP00000352154.5:p.Leu15147Met
ENST00000460472.6:c.45064C>A (TTN)	ENSP00000434586.1:p.Leu15022Met
ENST00000589042.5:c.72259C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu24087Met
ENST00000591111.5:c.67336C>A (TTN)	ENSP00000465570.1:p.Leu22446Met
ENST00000615779.4:c.67336C>A (TTN)	ENSP00000483597.1:p.Leu22446Met
NM_001256850.1:c.67336C>A (TTN)	NP_001243779.1:p.Leu22446Met
NM_001267550.2:c.72259C>A (TTN) MANE Select	NP_001254479.2:p.Leu24087Met
NM_003319.4:c.45064C>A (TTN)	NP_003310.4:p.Leu15022Met
NM_133378.4:c.64555C>A (TTN)	NP_596869.4:p.Leu21519Met
NM_133432.3:c.45439C>A (TTN)	NP_597676.3:p.Leu15147Met
NM_133437.4:c.45640C>A (TTN)	NP_597681.4:p.Leu15214Met
NR_038271.1:n.596+2424G>T (TTN-AS1)
NR_038272.1:n.2044-8699G>T (TTN-AS1)
XM_011511729.1:c.71356C>A (TTN)	XP_011510031.1:p.Leu23786Met
XM_011511730.1:c.45250C>A (TTN)	XP_011510032.1:p.Leu15084Met
XM_011511731.1:c.45109C>A (TTN)	XP_011510033.1:p.Leu15037Met
XM_017004819.1:c.71152C>A (TTN)	XP_016860308.1:p.Leu23718Met
XM_017004820.1:c.66550C>A (TTN)	XP_016860309.1:p.Leu22184Met
XM_017004821.1:c.66547C>A (TTN)	XP_016860310.1:p.Leu22183Met
XM_017004822.1:c.63589C>A (TTN)	XP_016860311.1:p.Leu21197Met
XM_017004823.1:c.45205C>A (TTN)	XP_016860312.1:p.Leu15069Met
XM_024453094.1:c.66700C>A (TTN)	XP_024308862.1:p.Leu22234Met
XM_024453095.1:c.66697C>A (TTN)	XP_024308863.1:p.Leu22233Met
XM_024453096.1:c.66130C>A (TTN)	XP_024308864.1:p.Leu22044Met
XM_024453097.1:c.63472C>A (TTN)	XP_024308865.1:p.Leu21158Met
XM_024453098.1:c.63391C>A (TTN)	XP_024308866.1:p.Leu21131Met
XM_024453099.1:c.45154C>A (TTN)	XP_024308867.1:p.Leu15052Met
XM_024453100.1:c.35008C>A (TTN)	XP_024308868.1:p.Leu11670Met