Canonical Allele Identifier: CA349488448

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1402607 ; COSM1402608 ; COSM1402609 ; COSM1402610
• MyVariant Identifiers: chr2:g.179456607G>A (hg19) ; chr2:g.178591880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591880G>A , CM000664.2:g.178591880G>A	GRCh38
NC_000002.11:g.179456607G>A , CM000664.1:g.179456607G>A	GRCh37
NC_000002.10:g.179164853G>A	NCBI36
NG_011618.3:g.243923C>T , LRG_391:g.243923C>T
NG_051363.1:g.74054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52235C>T (TTN)	ENSP00000343764.6:p.Pro17412Leu
ENST00000342175.11:c.33320C>T (TTN)	ENSP00000340554.6:p.Pro11107Leu
ENST00000359218.10:c.33119C>T (TTN)	ENSP00000352154.5:p.Pro11040Leu
ENST00000342175.10:c.33320C>T (TTN)	ENSP00000340554.6:p.Pro11107Leu
ENST00000342992.10:c.52235C>T (TTN)	ENSP00000343764.6:p.Pro17412Leu
ENST00000359218.9:c.33119C>T (TTN)	ENSP00000352154.5:p.Pro11040Leu
ENST00000460472.6:c.32744C>T (TTN)	ENSP00000434586.1:p.Pro10915Leu
ENST00000589042.5:c.59939C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19980Leu
ENST00000591111.5:c.55016C>T (TTN)	ENSP00000465570.1:p.Pro18339Leu
ENST00000615779.4:c.55016C>T (TTN)	ENSP00000483597.1:p.Pro18339Leu
NM_001256850.1:c.55016C>T (TTN)	NP_001243779.1:p.Pro18339Leu
NM_001267550.2:c.59939C>T (TTN) MANE Select	NP_001254479.2:p.Pro19980Leu
NM_003319.4:c.32744C>T (TTN)	NP_003310.4:p.Pro10915Leu
NM_133378.4:c.52235C>T (TTN)	NP_596869.4:p.Pro17412Leu
NM_133432.3:c.33119C>T (TTN)	NP_597676.3:p.Pro11040Leu
NM_133437.4:c.33320C>T (TTN)	NP_597681.4:p.Pro11107Leu
NR_038271.1:n.597-5716G>A (TTN-AS1)
NR_038272.1:n.3364+566G>A (TTN-AS1)
XM_011511729.1:c.59036C>T (TTN)	XP_011510031.1:p.Pro19679Leu
XM_011511730.1:c.32930C>T (TTN)	XP_011510032.1:p.Pro10977Leu
XM_011511731.1:c.32789C>T (TTN)	XP_011510033.1:p.Pro10930Leu
XM_017004819.1:c.58832C>T (TTN)	XP_016860308.1:p.Pro19611Leu
XM_017004820.1:c.54230C>T (TTN)	XP_016860309.1:p.Pro18077Leu
XM_017004821.1:c.54227C>T (TTN)	XP_016860310.1:p.Pro18076Leu
XM_017004822.1:c.51269C>T (TTN)	XP_016860311.1:p.Pro17090Leu
XM_017004823.1:c.32885C>T (TTN)	XP_016860312.1:p.Pro10962Leu
XM_024453094.1:c.54380C>T (TTN)	XP_024308862.1:p.Pro18127Leu
XM_024453095.1:c.54377C>T (TTN)	XP_024308863.1:p.Pro18126Leu
XM_024453096.1:c.53810C>T (TTN)	XP_024308864.1:p.Pro17937Leu
XM_024453097.1:c.51152C>T (TTN)	XP_024308865.1:p.Pro17051Leu
XM_024453098.1:c.51071C>T (TTN)	XP_024308866.1:p.Pro17024Leu
XM_024453099.1:c.32834C>T (TTN)	XP_024308867.1:p.Pro10945Leu
XM_024453100.1:c.22688C>T (TTN)	XP_024308868.1:p.Pro7563Leu