Canonical Allele Identifier: CA349464189

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179410776C>A (hg19) ; chr2:g.178546049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546049C>A , CM000664.2:g.178546049C>A	GRCh38
NC_000002.11:g.179410776C>A , CM000664.1:g.179410776C>A	GRCh37
NC_000002.10:g.179119022C>A	NCBI36
NG_011618.3:g.289754G>T , LRG_391:g.289754G>T
NG_051363.1:g.28223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87483G>T (TTN)	ENSP00000343764.6:p.Trp29161Cys
ENST00000342175.11:c.68568G>T (TTN)	ENSP00000340554.6:p.Trp22856Cys
ENST00000359218.10:c.68367G>T (TTN)	ENSP00000352154.5:p.Trp22789Cys
ENST00000342175.10:c.68568G>T (TTN)	ENSP00000340554.6:p.Trp22856Cys
ENST00000342992.10:c.87483G>T (TTN)	ENSP00000343764.6:p.Trp29161Cys
ENST00000359218.9:c.68367G>T (TTN)	ENSP00000352154.5:p.Trp22789Cys
ENST00000460472.6:c.67992G>T (TTN)	ENSP00000434586.1:p.Trp22664Cys
ENST00000589042.5:c.95187G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp31729Cys
ENST00000591111.5:c.90264G>T (TTN)	ENSP00000465570.1:p.Trp30088Cys
ENST00000615779.4:c.90264G>T (TTN)	ENSP00000483597.1:p.Trp30088Cys
NM_001256850.1:c.90264G>T (TTN)	NP_001243779.1:p.Trp30088Cys
NM_001267550.2:c.95187G>T (TTN) MANE Select	NP_001254479.2:p.Trp31729Cys
NM_003319.4:c.67992G>T (TTN)	NP_003310.4:p.Trp22664Cys
NM_133378.4:c.87483G>T (TTN)	NP_596869.4:p.Trp29161Cys
NM_133432.3:c.68367G>T (TTN)	NP_597676.3:p.Trp22789Cys
NM_133437.4:c.68568G>T (TTN)	NP_597681.4:p.Trp22856Cys
NR_038271.1:n.446+22413C>A (TTN-AS1)
NR_038272.1:n.2043+3688C>A (TTN-AS1)
XM_011511729.1:c.94284G>T (TTN)	XP_011510031.1:p.Trp31428Cys
XM_011511730.1:c.68178G>T (TTN)	XP_011510032.1:p.Trp22726Cys
XM_011511731.1:c.68037G>T (TTN)	XP_011510033.1:p.Trp22679Cys
XM_017004819.1:c.94080G>T (TTN)	XP_016860308.1:p.Trp31360Cys
XM_017004820.1:c.89478G>T (TTN)	XP_016860309.1:p.Trp29826Cys
XM_017004821.1:c.89475G>T (TTN)	XP_016860310.1:p.Trp29825Cys
XM_017004822.1:c.86517G>T (TTN)	XP_016860311.1:p.Trp28839Cys
XM_017004823.1:c.68133G>T (TTN)	XP_016860312.1:p.Trp22711Cys
XM_024453094.1:c.89628G>T (TTN)	XP_024308862.1:p.Trp29876Cys
XM_024453095.1:c.89625G>T (TTN)	XP_024308863.1:p.Trp29875Cys
XM_024453096.1:c.89058G>T (TTN)	XP_024308864.1:p.Trp29686Cys
XM_024453097.1:c.86400G>T (TTN)	XP_024308865.1:p.Trp28800Cys
XM_024453098.1:c.86319G>T (TTN)	XP_024308866.1:p.Trp28773Cys
XM_024453099.1:c.68082G>T (TTN)	XP_024308867.1:p.Trp22694Cys
XM_024453100.1:c.57936G>T (TTN)	XP_024308868.1:p.Trp19312Cys