Canonical Allele Identifier: CA358822

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 132134
• ClinVar RCV Id: RCV000119022 ; RCV000986937
• dbSNP Id: rs869320741
• MyVariant Identifiers: chr2:g.179410778A>G (hg19) ; chr2:g.178546051A>G (hg38)
• PubMed: PMID:24575448

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546051A>G , CM000664.2:g.178546051A>G	GRCh38
NC_000002.11:g.179410778A>G , CM000664.1:g.179410778A>G	GRCh37
NC_000002.10:g.179119024A>G	NCBI36
NG_011618.3:g.289752T>C , LRG_391:g.289752T>C
NG_051363.1:g.28225A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87481T>C (TTN)	ENSP00000343764.6:p.Trp29161Arg
ENST00000342175.11:c.68566T>C (TTN)	ENSP00000340554.6:p.Trp22856Arg
ENST00000359218.10:c.68365T>C (TTN)	ENSP00000352154.5:p.Trp22789Arg
ENST00000342175.10:c.68566T>C (TTN)	ENSP00000340554.6:p.Trp22856Arg
ENST00000342992.10:c.87481T>C (TTN)	ENSP00000343764.6:p.Trp29161Arg
ENST00000359218.9:c.68365T>C (TTN)	ENSP00000352154.5:p.Trp22789Arg
ENST00000460472.6:c.67990T>C (TTN)	ENSP00000434586.1:p.Trp22664Arg
ENST00000589042.5:c.95185T>C (TTN) MANE Select	ENSP00000467141.1:p.Trp31729Arg
ENST00000591111.5:c.90262T>C (TTN)	ENSP00000465570.1:p.Trp30088Arg
ENST00000615779.4:c.90262T>C (TTN)	ENSP00000483597.1:p.Trp30088Arg
NM_001256850.1:c.90262T>C (TTN)	NP_001243779.1:p.Trp30088Arg
NM_001267550.2:c.95185T>C (TTN) MANE Select	NP_001254479.2:p.Trp31729Arg
NM_003319.4:c.67990T>C (TTN)	NP_003310.4:p.Trp22664Arg
NM_133378.4:c.87481T>C (TTN)	NP_596869.4:p.Trp29161Arg
NM_133432.3:c.68365T>C (TTN)	NP_597676.3:p.Trp22789Arg
NM_133437.4:c.68566T>C (TTN)	NP_597681.4:p.Trp22856Arg
NR_038271.1:n.446+22415A>G (TTN-AS1)
NR_038272.1:n.2043+3690A>G (TTN-AS1)
XM_011511729.1:c.94282T>C (TTN)	XP_011510031.1:p.Trp31428Arg
XM_011511730.1:c.68176T>C (TTN)	XP_011510032.1:p.Trp22726Arg
XM_011511731.1:c.68035T>C (TTN)	XP_011510033.1:p.Trp22679Arg
XM_017004819.1:c.94078T>C (TTN)	XP_016860308.1:p.Trp31360Arg
XM_017004820.1:c.89476T>C (TTN)	XP_016860309.1:p.Trp29826Arg
XM_017004821.1:c.89473T>C (TTN)	XP_016860310.1:p.Trp29825Arg
XM_017004822.1:c.86515T>C (TTN)	XP_016860311.1:p.Trp28839Arg
XM_017004823.1:c.68131T>C (TTN)	XP_016860312.1:p.Trp22711Arg
XM_024453094.1:c.89626T>C (TTN)	XP_024308862.1:p.Trp29876Arg
XM_024453095.1:c.89623T>C (TTN)	XP_024308863.1:p.Trp29875Arg
XM_024453096.1:c.89056T>C (TTN)	XP_024308864.1:p.Trp29686Arg
XM_024453097.1:c.86398T>C (TTN)	XP_024308865.1:p.Trp28800Arg
XM_024453098.1:c.86317T>C (TTN)	XP_024308866.1:p.Trp28773Arg
XM_024453099.1:c.68080T>C (TTN)	XP_024308867.1:p.Trp22694Arg
XM_024453100.1:c.57934T>C (TTN)	XP_024308868.1:p.Trp19312Arg