Canonical Allele Identifier: CA349504273

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416582C>T (hg19) ; chr2:g.178551855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551855C>T , CM000664.2:g.178551855C>T	GRCh38
NC_000002.11:g.179416582C>T , CM000664.1:g.179416582C>T	GRCh37
NC_000002.10:g.179124828C>T	NCBI36
NG_011618.3:g.283948G>A , LRG_391:g.283948G>A
NG_051363.1:g.34029C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83341G>A (TTN)	ENSP00000343764.6:p.Val27781Ile
ENST00000342175.11:c.64426G>A (TTN)	ENSP00000340554.6:p.Val21476Ile
ENST00000359218.10:c.64225G>A (TTN)	ENSP00000352154.5:p.Val21409Ile
ENST00000342175.10:c.64426G>A (TTN)	ENSP00000340554.6:p.Val21476Ile
ENST00000342992.10:c.83341G>A (TTN)	ENSP00000343764.6:p.Val27781Ile
ENST00000359218.9:c.64225G>A (TTN)	ENSP00000352154.5:p.Val21409Ile
ENST00000460472.6:c.63850G>A (TTN)	ENSP00000434586.1:p.Val21284Ile
ENST00000589042.5:c.91045G>A (TTN) MANE Select	ENSP00000467141.1:p.Val30349Ile
ENST00000591111.5:c.86122G>A (TTN)	ENSP00000465570.1:p.Val28708Ile
ENST00000615779.4:c.86122G>A (TTN)	ENSP00000483597.1:p.Val28708Ile
NM_001256850.1:c.86122G>A (TTN)	NP_001243779.1:p.Val28708Ile
NM_001267550.2:c.91045G>A (TTN) MANE Select	NP_001254479.2:p.Val30349Ile
NM_003319.4:c.63850G>A (TTN)	NP_003310.4:p.Val21284Ile
NM_133378.4:c.83341G>A (TTN)	NP_596869.4:p.Val27781Ile
NM_133432.3:c.64225G>A (TTN)	NP_597676.3:p.Val21409Ile
NM_133437.4:c.64426G>A (TTN)	NP_597681.4:p.Val21476Ile
NR_038271.1:n.447-19445C>T (TTN-AS1)
NR_038272.1:n.2043+9494C>T (TTN-AS1)
XM_011511729.1:c.90142G>A (TTN)	XP_011510031.1:p.Val30048Ile
XM_011511730.1:c.64036G>A (TTN)	XP_011510032.1:p.Val21346Ile
XM_011511731.1:c.63895G>A (TTN)	XP_011510033.1:p.Val21299Ile
XM_017004819.1:c.89938G>A (TTN)	XP_016860308.1:p.Val29980Ile
XM_017004820.1:c.85336G>A (TTN)	XP_016860309.1:p.Val28446Ile
XM_017004821.1:c.85333G>A (TTN)	XP_016860310.1:p.Val28445Ile
XM_017004822.1:c.82375G>A (TTN)	XP_016860311.1:p.Val27459Ile
XM_017004823.1:c.63991G>A (TTN)	XP_016860312.1:p.Val21331Ile
XM_024453094.1:c.85486G>A (TTN)	XP_024308862.1:p.Val28496Ile
XM_024453095.1:c.85483G>A (TTN)	XP_024308863.1:p.Val28495Ile
XM_024453096.1:c.84916G>A (TTN)	XP_024308864.1:p.Val28306Ile
XM_024453097.1:c.82258G>A (TTN)	XP_024308865.1:p.Val27420Ile
XM_024453098.1:c.82177G>A (TTN)	XP_024308866.1:p.Val27393Ile
XM_024453099.1:c.63940G>A (TTN)	XP_024308867.1:p.Val21314Ile
XM_024453100.1:c.53794G>A (TTN)	XP_024308868.1:p.Val17932Ile