Canonical Allele Identifier: CA349483617

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455848T>A (hg19) ; chr2:g.178591121T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591121T>A , CM000664.2:g.178591121T>A	GRCh38
NC_000002.11:g.179455848T>A , CM000664.1:g.179455848T>A	GRCh37
NC_000002.10:g.179164094T>A	NCBI36
NG_011618.3:g.244682A>T , LRG_391:g.244682A>T
NG_051363.1:g.73295T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52900A>T (TTN)	ENSP00000343764.6:p.Ser17634Cys
ENST00000342175.11:c.33985A>T (TTN)	ENSP00000340554.6:p.Ser11329Cys
ENST00000359218.10:c.33784A>T (TTN)	ENSP00000352154.5:p.Ser11262Cys
ENST00000342175.10:c.33985A>T (TTN)	ENSP00000340554.6:p.Ser11329Cys
ENST00000342992.10:c.52900A>T (TTN)	ENSP00000343764.6:p.Ser17634Cys
ENST00000359218.9:c.33784A>T (TTN)	ENSP00000352154.5:p.Ser11262Cys
ENST00000460472.6:c.33409A>T (TTN)	ENSP00000434586.1:p.Ser11137Cys
ENST00000589042.5:c.60604A>T (TTN) MANE Select	ENSP00000467141.1:p.Ser20202Cys
ENST00000591111.5:c.55681A>T (TTN)	ENSP00000465570.1:p.Ser18561Cys
ENST00000615779.4:c.55681A>T (TTN)	ENSP00000483597.1:p.Ser18561Cys
NM_001256850.1:c.55681A>T (TTN)	NP_001243779.1:p.Ser18561Cys
NM_001267550.2:c.60604A>T (TTN) MANE Select	NP_001254479.2:p.Ser20202Cys
NM_003319.4:c.33409A>T (TTN)	NP_003310.4:p.Ser11137Cys
NM_133378.4:c.52900A>T (TTN)	NP_596869.4:p.Ser17634Cys
NM_133432.3:c.33784A>T (TTN)	NP_597676.3:p.Ser11262Cys
NM_133437.4:c.33985A>T (TTN)	NP_597681.4:p.Ser11329Cys
NR_038271.1:n.597-6475T>A (TTN-AS1)
NR_038272.1:n.3189-18T>A (TTN-AS1)
XM_011511729.1:c.59701A>T (TTN)	XP_011510031.1:p.Ser19901Cys
XM_011511730.1:c.33595A>T (TTN)	XP_011510032.1:p.Ser11199Cys
XM_011511731.1:c.33454A>T (TTN)	XP_011510033.1:p.Ser11152Cys
XM_017004819.1:c.59497A>T (TTN)	XP_016860308.1:p.Ser19833Cys
XM_017004820.1:c.54895A>T (TTN)	XP_016860309.1:p.Ser18299Cys
XM_017004821.1:c.54892A>T (TTN)	XP_016860310.1:p.Ser18298Cys
XM_017004822.1:c.51934A>T (TTN)	XP_016860311.1:p.Ser17312Cys
XM_017004823.1:c.33550A>T (TTN)	XP_016860312.1:p.Ser11184Cys
XM_024453094.1:c.55045A>T (TTN)	XP_024308862.1:p.Ser18349Cys
XM_024453095.1:c.55042A>T (TTN)	XP_024308863.1:p.Ser18348Cys
XM_024453096.1:c.54475A>T (TTN)	XP_024308864.1:p.Ser18159Cys
XM_024453097.1:c.51817A>T (TTN)	XP_024308865.1:p.Ser17273Cys
XM_024453098.1:c.51736A>T (TTN)	XP_024308866.1:p.Ser17246Cys
XM_024453099.1:c.33499A>T (TTN)	XP_024308867.1:p.Ser11167Cys
XM_024453100.1:c.23353A>T (TTN)	XP_024308868.1:p.Ser7785Cys