Canonical Allele Identifier: CA349496628

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5674334 ; COSM5674335 ; COSM5674336 ; COSM5674337
• MyVariant Identifiers: chr2:g.179457787G>T (hg19) ; chr2:g.178593060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593060G>T , CM000664.2:g.178593060G>T	GRCh38
NC_000002.11:g.179457787G>T , CM000664.1:g.179457787G>T	GRCh37
NC_000002.10:g.179166033G>T	NCBI36
NG_011618.3:g.242743C>A , LRG_391:g.242743C>A
NG_051363.1:g.75234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51355C>A (TTN)	ENSP00000343764.6:p.Pro17119Thr
ENST00000342175.11:c.32440C>A (TTN)	ENSP00000340554.6:p.Pro10814Thr
ENST00000359218.10:c.32239C>A (TTN)	ENSP00000352154.5:p.Pro10747Thr
ENST00000342175.10:c.32440C>A (TTN)	ENSP00000340554.6:p.Pro10814Thr
ENST00000342992.10:c.51355C>A (TTN)	ENSP00000343764.6:p.Pro17119Thr
ENST00000359218.9:c.32239C>A (TTN)	ENSP00000352154.5:p.Pro10747Thr
ENST00000460472.6:c.31864C>A (TTN)	ENSP00000434586.1:p.Pro10622Thr
ENST00000589042.5:c.59059C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro19687Thr
ENST00000591111.5:c.54136C>A (TTN)	ENSP00000465570.1:p.Pro18046Thr
ENST00000615779.4:c.54136C>A (TTN)	ENSP00000483597.1:p.Pro18046Thr
NM_001256850.1:c.54136C>A (TTN)	NP_001243779.1:p.Pro18046Thr
NM_001267550.2:c.59059C>A (TTN) MANE Select	NP_001254479.2:p.Pro19687Thr
NM_003319.4:c.31864C>A (TTN)	NP_003310.4:p.Pro10622Thr
NM_133378.4:c.51355C>A (TTN)	NP_596869.4:p.Pro17119Thr
NM_133432.3:c.32239C>A (TTN)	NP_597676.3:p.Pro10747Thr
NM_133437.4:c.32440C>A (TTN)	NP_597681.4:p.Pro10814Thr
NR_038271.1:n.597-4536G>T (TTN-AS1)
NR_038272.1:n.3364+1746G>T (TTN-AS1)
XM_011511729.1:c.58156C>A (TTN)	XP_011510031.1:p.Pro19386Thr
XM_011511730.1:c.32050C>A (TTN)	XP_011510032.1:p.Pro10684Thr
XM_011511731.1:c.31909C>A (TTN)	XP_011510033.1:p.Pro10637Thr
XM_017004819.1:c.57952C>A (TTN)	XP_016860308.1:p.Pro19318Thr
XM_017004820.1:c.53350C>A (TTN)	XP_016860309.1:p.Pro17784Thr
XM_017004821.1:c.53347C>A (TTN)	XP_016860310.1:p.Pro17783Thr
XM_017004822.1:c.50389C>A (TTN)	XP_016860311.1:p.Pro16797Thr
XM_017004823.1:c.32005C>A (TTN)	XP_016860312.1:p.Pro10669Thr
XM_024453094.1:c.53500C>A (TTN)	XP_024308862.1:p.Pro17834Thr
XM_024453095.1:c.53497C>A (TTN)	XP_024308863.1:p.Pro17833Thr
XM_024453096.1:c.52930C>A (TTN)	XP_024308864.1:p.Pro17644Thr
XM_024453097.1:c.50272C>A (TTN)	XP_024308865.1:p.Pro16758Thr
XM_024453098.1:c.50191C>A (TTN)	XP_024308866.1:p.Pro16731Thr
XM_024453099.1:c.31954C>A (TTN)	XP_024308867.1:p.Pro10652Thr
XM_024453100.1:c.21808C>A (TTN)	XP_024308868.1:p.Pro7270Thr