Canonical Allele Identifier: CA349423094

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444022C>T (hg19) ; chr2:g.178579295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579295C>T , CM000664.2:g.178579295C>T	GRCh38
NC_000002.11:g.179444022C>T , CM000664.1:g.179444022C>T	GRCh37
NC_000002.10:g.179152268C>T	NCBI36
NG_011618.3:g.256508G>A , LRG_391:g.256508G>A
NG_051363.1:g.61469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60031G>A (TTN)	ENSP00000343764.6:p.Ala20011Thr
ENST00000342175.11:c.41116G>A (TTN)	ENSP00000340554.6:p.Ala13706Thr
ENST00000359218.10:c.40915G>A (TTN)	ENSP00000352154.5:p.Ala13639Thr
ENST00000342175.10:c.41116G>A (TTN)	ENSP00000340554.6:p.Ala13706Thr
ENST00000342992.10:c.60031G>A (TTN)	ENSP00000343764.6:p.Ala20011Thr
ENST00000359218.9:c.40915G>A (TTN)	ENSP00000352154.5:p.Ala13639Thr
ENST00000460472.6:c.40540G>A (TTN)	ENSP00000434586.1:p.Ala13514Thr
ENST00000589042.5:c.67735G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala22579Thr
ENST00000591111.5:c.62812G>A (TTN)	ENSP00000465570.1:p.Ala20938Thr
ENST00000615779.4:c.62812G>A (TTN)	ENSP00000483597.1:p.Ala20938Thr
NM_001256850.1:c.62812G>A (TTN)	NP_001243779.1:p.Ala20938Thr
NM_001267550.2:c.67735G>A (TTN) MANE Select	NP_001254479.2:p.Ala22579Thr
NM_003319.4:c.40540G>A (TTN)	NP_003310.4:p.Ala13514Thr
NM_133378.4:c.60031G>A (TTN)	NP_596869.4:p.Ala20011Thr
NM_133432.3:c.40915G>A (TTN)	NP_597676.3:p.Ala13639Thr
NM_133437.4:c.41116G>A (TTN)	NP_597681.4:p.Ala13706Thr
NR_038271.1:n.596+7846C>T (TTN-AS1)
NR_038272.1:n.2044-3277C>T (TTN-AS1)
XM_011511729.1:c.66832G>A (TTN)	XP_011510031.1:p.Ala22278Thr
XM_011511730.1:c.40726G>A (TTN)	XP_011510032.1:p.Ala13576Thr
XM_011511731.1:c.40585G>A (TTN)	XP_011510033.1:p.Ala13529Thr
XM_017004819.1:c.66628G>A (TTN)	XP_016860308.1:p.Ala22210Thr
XM_017004820.1:c.62026G>A (TTN)	XP_016860309.1:p.Ala20676Thr
XM_017004821.1:c.62023G>A (TTN)	XP_016860310.1:p.Ala20675Thr
XM_017004822.1:c.59065G>A (TTN)	XP_016860311.1:p.Ala19689Thr
XM_017004823.1:c.40681G>A (TTN)	XP_016860312.1:p.Ala13561Thr
XM_024453094.1:c.62176G>A (TTN)	XP_024308862.1:p.Ala20726Thr
XM_024453095.1:c.62173G>A (TTN)	XP_024308863.1:p.Ala20725Thr
XM_024453096.1:c.61606G>A (TTN)	XP_024308864.1:p.Ala20536Thr
XM_024453097.1:c.58948G>A (TTN)	XP_024308865.1:p.Ala19650Thr
XM_024453098.1:c.58867G>A (TTN)	XP_024308866.1:p.Ala19623Thr
XM_024453099.1:c.40630G>A (TTN)	XP_024308867.1:p.Ala13544Thr
XM_024453100.1:c.30484G>A (TTN)	XP_024308868.1:p.Ala10162Thr