Canonical Allele Identifier: CA349648300

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438704T>G (hg19) ; chr2:g.178573977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573977T>G , CM000664.2:g.178573977T>G	GRCh38
NC_000002.11:g.179438704T>G , CM000664.1:g.179438704T>G	GRCh37
NC_000002.10:g.179146950T>G	NCBI36
NG_011618.3:g.261826A>C , LRG_391:g.261826A>C
NG_051363.1:g.56151T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64451A>C (TTN)	ENSP00000343764.6:p.Asp21484Ala
ENST00000342175.11:c.45536A>C (TTN)	ENSP00000340554.6:p.Asp15179Ala
ENST00000359218.10:c.45335A>C (TTN)	ENSP00000352154.5:p.Asp15112Ala
ENST00000342175.10:c.45536A>C (TTN)	ENSP00000340554.6:p.Asp15179Ala
ENST00000342992.10:c.64451A>C (TTN)	ENSP00000343764.6:p.Asp21484Ala
ENST00000359218.9:c.45335A>C (TTN)	ENSP00000352154.5:p.Asp15112Ala
ENST00000460472.6:c.44960A>C (TTN)	ENSP00000434586.1:p.Asp14987Ala
ENST00000589042.5:c.72155A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp24052Ala
ENST00000591111.5:c.67232A>C (TTN)	ENSP00000465570.1:p.Asp22411Ala
ENST00000615779.4:c.67232A>C (TTN)	ENSP00000483597.1:p.Asp22411Ala
NM_001256850.1:c.67232A>C (TTN)	NP_001243779.1:p.Asp22411Ala
NM_001267550.2:c.72155A>C (TTN) MANE Select	NP_001254479.2:p.Asp24052Ala
NM_003319.4:c.44960A>C (TTN)	NP_003310.4:p.Asp14987Ala
NM_133378.4:c.64451A>C (TTN)	NP_596869.4:p.Asp21484Ala
NM_133432.3:c.45335A>C (TTN)	NP_597676.3:p.Asp15112Ala
NM_133437.4:c.45536A>C (TTN)	NP_597681.4:p.Asp15179Ala
NR_038271.1:n.596+2528T>G (TTN-AS1)
NR_038272.1:n.2044-8595T>G (TTN-AS1)
XM_011511729.1:c.71252A>C (TTN)	XP_011510031.1:p.Asp23751Ala
XM_011511730.1:c.45146A>C (TTN)	XP_011510032.1:p.Asp15049Ala
XM_011511731.1:c.45005A>C (TTN)	XP_011510033.1:p.Asp15002Ala
XM_017004819.1:c.71048A>C (TTN)	XP_016860308.1:p.Asp23683Ala
XM_017004820.1:c.66446A>C (TTN)	XP_016860309.1:p.Asp22149Ala
XM_017004821.1:c.66443A>C (TTN)	XP_016860310.1:p.Asp22148Ala
XM_017004822.1:c.63485A>C (TTN)	XP_016860311.1:p.Asp21162Ala
XM_017004823.1:c.45101A>C (TTN)	XP_016860312.1:p.Asp15034Ala
XM_024453094.1:c.66596A>C (TTN)	XP_024308862.1:p.Asp22199Ala
XM_024453095.1:c.66593A>C (TTN)	XP_024308863.1:p.Asp22198Ala
XM_024453096.1:c.66026A>C (TTN)	XP_024308864.1:p.Asp22009Ala
XM_024453097.1:c.63368A>C (TTN)	XP_024308865.1:p.Asp21123Ala
XM_024453098.1:c.63287A>C (TTN)	XP_024308866.1:p.Asp21096Ala
XM_024453099.1:c.45050A>C (TTN)	XP_024308867.1:p.Asp15017Ala
XM_024453100.1:c.34904A>C (TTN)	XP_024308868.1:p.Asp11635Ala