Canonical Allele Identifier: CA349496630

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457787G>A (hg19) ; chr2:g.178593060G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51355C>T (TTN)	ENSP00000343764.6:p.Pro17119Ser
ENST00000342175.11:c.32440C>T (TTN)	ENSP00000340554.6:p.Pro10814Ser
ENST00000359218.10:c.32239C>T (TTN)	ENSP00000352154.5:p.Pro10747Ser
ENST00000342175.10:c.32440C>T (TTN)	ENSP00000340554.6:p.Pro10814Ser
ENST00000342992.10:c.51355C>T (TTN)	ENSP00000343764.6:p.Pro17119Ser
ENST00000359218.9:c.32239C>T (TTN)	ENSP00000352154.5:p.Pro10747Ser
ENST00000460472.6:c.31864C>T (TTN)	ENSP00000434586.1:p.Pro10622Ser
ENST00000589042.5:c.59059C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19687Ser
ENST00000591111.5:c.54136C>T (TTN)	ENSP00000465570.1:p.Pro18046Ser
ENST00000615779.4:c.54136C>T (TTN)	ENSP00000483597.1:p.Pro18046Ser
NM_001256850.1:c.54136C>T (TTN)	NP_001243779.1:p.Pro18046Ser
NM_001267550.2:c.59059C>T (TTN) MANE Select	NP_001254479.2:p.Pro19687Ser
NM_003319.4:c.31864C>T (TTN)	NP_003310.4:p.Pro10622Ser
NM_133378.4:c.51355C>T (TTN)	NP_596869.4:p.Pro17119Ser
NM_133432.3:c.32239C>T (TTN)	NP_597676.3:p.Pro10747Ser
NM_133437.4:c.32440C>T (TTN)	NP_597681.4:p.Pro10814Ser
NR_038271.1:n.597-4536G>A (TTN-AS1)
NR_038272.1:n.3364+1746G>A (TTN-AS1)
XM_011511729.1:c.58156C>T (TTN)	XP_011510031.1:p.Pro19386Ser
XM_011511730.1:c.32050C>T (TTN)	XP_011510032.1:p.Pro10684Ser
XM_011511731.1:c.31909C>T (TTN)	XP_011510033.1:p.Pro10637Ser
XM_017004819.1:c.57952C>T (TTN)	XP_016860308.1:p.Pro19318Ser
XM_017004820.1:c.53350C>T (TTN)	XP_016860309.1:p.Pro17784Ser
XM_017004821.1:c.53347C>T (TTN)	XP_016860310.1:p.Pro17783Ser
XM_017004822.1:c.50389C>T (TTN)	XP_016860311.1:p.Pro16797Ser
XM_017004823.1:c.32005C>T (TTN)	XP_016860312.1:p.Pro10669Ser
XM_024453094.1:c.53500C>T (TTN)	XP_024308862.1:p.Pro17834Ser
XM_024453095.1:c.53497C>T (TTN)	XP_024308863.1:p.Pro17833Ser
XM_024453096.1:c.52930C>T (TTN)	XP_024308864.1:p.Pro17644Ser
XM_024453097.1:c.50272C>T (TTN)	XP_024308865.1:p.Pro16758Ser
XM_024453098.1:c.50191C>T (TTN)	XP_024308866.1:p.Pro16731Ser
XM_024453099.1:c.31954C>T (TTN)	XP_024308867.1:p.Pro10652Ser
XM_024453100.1:c.21808C>T (TTN)	XP_024308868.1:p.Pro7270Ser