Canonical Allele Identifier: CA349427131

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401904C>A (hg19) ; chr2:g.178537177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537177C>A , CM000664.2:g.178537177C>A	GRCh38
NC_000002.11:g.179401904C>A , CM000664.1:g.179401904C>A	GRCh37
NC_000002.10:g.179110150C>A	NCBI36
NG_011618.3:g.298626G>T , LRG_391:g.298626G>T
NG_051363.1:g.19351C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92228G>T (TTN)	ENSP00000343764.6:p.Ser30743Ile
ENST00000342175.11:c.73313G>T (TTN)	ENSP00000340554.6:p.Ser24438Ile
ENST00000359218.10:c.73112G>T (TTN)	ENSP00000352154.5:p.Ser24371Ile
ENST00000342175.10:c.73313G>T (TTN)	ENSP00000340554.6:p.Ser24438Ile
ENST00000342992.10:c.92228G>T (TTN)	ENSP00000343764.6:p.Ser30743Ile
ENST00000359218.9:c.73112G>T (TTN)	ENSP00000352154.5:p.Ser24371Ile
ENST00000460472.6:c.72737G>T (TTN)	ENSP00000434586.1:p.Ser24246Ile
ENST00000589042.5:c.99932G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser33311Ile
ENST00000591111.5:c.95009G>T (TTN)	ENSP00000465570.1:p.Ser31670Ile
ENST00000615779.4:c.95009G>T (TTN)	ENSP00000483597.1:p.Ser31670Ile
NM_001256850.1:c.95009G>T (TTN)	NP_001243779.1:p.Ser31670Ile
NM_001267550.2:c.99932G>T (TTN) MANE Select	NP_001254479.2:p.Ser33311Ile
NM_003319.4:c.72737G>T (TTN)	NP_003310.4:p.Ser24246Ile
NM_133378.4:c.92228G>T (TTN)	NP_596869.4:p.Ser30743Ile
NM_133432.3:c.73112G>T (TTN)	NP_597676.3:p.Ser24371Ile
NM_133437.4:c.73313G>T (TTN)	NP_597681.4:p.Ser24438Ile
NR_038271.1:n.446+13541C>A (TTN-AS1)
NR_038272.1:n.317-184C>A (TTN-AS1)
XM_011511729.1:c.99029G>T (TTN)	XP_011510031.1:p.Ser33010Ile
XM_011511730.1:c.72923G>T (TTN)	XP_011510032.1:p.Ser24308Ile
XM_011511731.1:c.72782G>T (TTN)	XP_011510033.1:p.Ser24261Ile
XM_017004819.1:c.98825G>T (TTN)	XP_016860308.1:p.Ser32942Ile
XM_017004820.1:c.94223G>T (TTN)	XP_016860309.1:p.Ser31408Ile
XM_017004821.1:c.94220G>T (TTN)	XP_016860310.1:p.Ser31407Ile
XM_017004822.1:c.91262G>T (TTN)	XP_016860311.1:p.Ser30421Ile
XM_017004823.1:c.72878G>T (TTN)	XP_016860312.1:p.Ser24293Ile
XM_024453094.1:c.94373G>T (TTN)	XP_024308862.1:p.Ser31458Ile
XM_024453095.1:c.94370G>T (TTN)	XP_024308863.1:p.Ser31457Ile
XM_024453096.1:c.93803G>T (TTN)	XP_024308864.1:p.Ser31268Ile
XM_024453097.1:c.91145G>T (TTN)	XP_024308865.1:p.Ser30382Ile
XM_024453098.1:c.91064G>T (TTN)	XP_024308866.1:p.Ser30355Ile
XM_024453099.1:c.72827G>T (TTN)	XP_024308867.1:p.Ser24276Ile
XM_024453100.1:c.62681G>T (TTN)	XP_024308868.1:p.Ser20894Ile