Canonical Allele Identifier: CA349612839

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1707168655
• COSMIC: COSM4852500 ; COSM4852501 ; COSM4852502 ; COSM4852503
• MyVariant Identifiers: chr2:g.179433825C>G (hg19) ; chr2:g.178569098C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569098C>G , CM000664.2:g.178569098C>G	GRCh38
NC_000002.11:g.179433825C>G , CM000664.1:g.179433825C>G	GRCh37
NC_000002.10:g.179142071C>G	NCBI36
NG_011618.3:g.266705G>C , LRG_391:g.266705G>C
NG_051363.1:g.51272C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69330G>C (TTN)	ENSP00000343764.6:p.Glu23110Asp
ENST00000342175.11:c.50415G>C (TTN)	ENSP00000340554.6:p.Glu16805Asp
ENST00000359218.10:c.50214G>C (TTN)	ENSP00000352154.5:p.Glu16738Asp
ENST00000342175.10:c.50415G>C (TTN)	ENSP00000340554.6:p.Glu16805Asp
ENST00000342992.10:c.69330G>C (TTN)	ENSP00000343764.6:p.Glu23110Asp
ENST00000359218.9:c.50214G>C (TTN)	ENSP00000352154.5:p.Glu16738Asp
ENST00000460472.6:c.49839G>C (TTN)	ENSP00000434586.1:p.Glu16613Asp
ENST00000589042.5:c.77034G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu25678Asp
ENST00000591111.5:c.72111G>C (TTN)	ENSP00000465570.1:p.Glu24037Asp
ENST00000615779.4:c.72111G>C (TTN)	ENSP00000483597.1:p.Glu24037Asp
NM_001256850.1:c.72111G>C (TTN)	NP_001243779.1:p.Glu24037Asp
NM_001267550.2:c.77034G>C (TTN) MANE Select	NP_001254479.2:p.Glu25678Asp
NM_003319.4:c.49839G>C (TTN)	NP_003310.4:p.Glu16613Asp
NM_133378.4:c.69330G>C (TTN)	NP_596869.4:p.Glu23110Asp
NM_133432.3:c.50214G>C (TTN)	NP_597676.3:p.Glu16738Asp
NM_133437.4:c.50415G>C (TTN)	NP_597681.4:p.Glu16805Asp
NR_038271.1:n.447-2202C>G (TTN-AS1)
NR_038272.1:n.2044-13474C>G (TTN-AS1)
XM_011511729.1:c.76131G>C (TTN)	XP_011510031.1:p.Glu25377Asp
XM_011511730.1:c.50025G>C (TTN)	XP_011510032.1:p.Glu16675Asp
XM_011511731.1:c.49884G>C (TTN)	XP_011510033.1:p.Glu16628Asp
XM_017004819.1:c.75927G>C (TTN)	XP_016860308.1:p.Glu25309Asp
XM_017004820.1:c.71325G>C (TTN)	XP_016860309.1:p.Glu23775Asp
XM_017004821.1:c.71322G>C (TTN)	XP_016860310.1:p.Glu23774Asp
XM_017004822.1:c.68364G>C (TTN)	XP_016860311.1:p.Glu22788Asp
XM_017004823.1:c.49980G>C (TTN)	XP_016860312.1:p.Glu16660Asp
XM_024453094.1:c.71475G>C (TTN)	XP_024308862.1:p.Glu23825Asp
XM_024453095.1:c.71472G>C (TTN)	XP_024308863.1:p.Glu23824Asp
XM_024453096.1:c.70905G>C (TTN)	XP_024308864.1:p.Glu23635Asp
XM_024453097.1:c.68247G>C (TTN)	XP_024308865.1:p.Glu22749Asp
XM_024453098.1:c.68166G>C (TTN)	XP_024308866.1:p.Glu22722Asp
XM_024453099.1:c.49929G>C (TTN)	XP_024308867.1:p.Glu16643Asp
XM_024453100.1:c.39783G>C (TTN)	XP_024308868.1:p.Glu13261Asp