Canonical Allele Identifier: CA1991785

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1734892
• ClinVar RCV Id: RCV002351174 ; RCV003738195
• dbSNP Id: rs758476009
• ExAC: 2:179449204 T / C
• gnomAD v2: 2-179449204-T-C
• gnomAD v3: 2-178584477-T-C
• gnomAD v4: 2-178584477-T-C
• MyVariant Identifiers: chr2:g.179449204T>C (hg19) ; chr2:g.178584477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584477T>C , CM000664.2:g.178584477T>C	GRCh38
NC_000002.11:g.179449204T>C , CM000664.1:g.179449204T>C	GRCh37
NC_000002.10:g.179157450T>C	NCBI36
NG_011618.3:g.251326A>G , LRG_391:g.251326A>G
NG_051363.1:g.66651T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57370A>G (TTN)	ENSP00000343764.6:p.Ile19124Val
ENST00000342175.11:c.38455A>G (TTN)	ENSP00000340554.6:p.Ile12819Val
ENST00000359218.10:c.38254A>G (TTN)	ENSP00000352154.5:p.Ile12752Val
ENST00000342175.10:c.38455A>G (TTN)	ENSP00000340554.6:p.Ile12819Val
ENST00000342992.10:c.57370A>G (TTN)	ENSP00000343764.6:p.Ile19124Val
ENST00000359218.9:c.38254A>G (TTN)	ENSP00000352154.5:p.Ile12752Val
ENST00000460472.6:c.37879A>G (TTN)	ENSP00000434586.1:p.Ile12627Val
ENST00000589042.5:c.65074A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile21692Val
ENST00000591111.5:c.60151A>G (TTN)	ENSP00000465570.1:p.Ile20051Val
ENST00000615779.4:c.60151A>G (TTN)	ENSP00000483597.1:p.Ile20051Val
NM_001256850.1:c.60151A>G (TTN)	NP_001243779.1:p.Ile20051Val
NM_001267550.2:c.65074A>G (TTN) MANE Select	NP_001254479.2:p.Ile21692Val
NM_003319.4:c.37879A>G (TTN)	NP_003310.4:p.Ile12627Val
NM_133378.4:c.57370A>G (TTN)	NP_596869.4:p.Ile19124Val
NM_133432.3:c.38254A>G (TTN)	NP_597676.3:p.Ile12752Val
NM_133437.4:c.38455A>G (TTN)	NP_597681.4:p.Ile12819Val
NR_038271.1:n.596+13028T>C (TTN-AS1)
NR_038272.1:n.2768-96T>C (TTN-AS1)
XM_011511729.1:c.64171A>G (TTN)	XP_011510031.1:p.Ile21391Val
XM_011511730.1:c.38065A>G (TTN)	XP_011510032.1:p.Ile12689Val
XM_011511731.1:c.37924A>G (TTN)	XP_011510033.1:p.Ile12642Val
XM_017004819.1:c.63967A>G (TTN)	XP_016860308.1:p.Ile21323Val
XM_017004820.1:c.59365A>G (TTN)	XP_016860309.1:p.Ile19789Val
XM_017004821.1:c.59362A>G (TTN)	XP_016860310.1:p.Ile19788Val
XM_017004822.1:c.56404A>G (TTN)	XP_016860311.1:p.Ile18802Val
XM_017004823.1:c.38020A>G (TTN)	XP_016860312.1:p.Ile12674Val
XM_024453094.1:c.59515A>G (TTN)	XP_024308862.1:p.Ile19839Val
XM_024453095.1:c.59512A>G (TTN)	XP_024308863.1:p.Ile19838Val
XM_024453096.1:c.58945A>G (TTN)	XP_024308864.1:p.Ile19649Val
XM_024453097.1:c.56287A>G (TTN)	XP_024308865.1:p.Ile18763Val
XM_024453098.1:c.56206A>G (TTN)	XP_024308866.1:p.Ile18736Val
XM_024453099.1:c.37969A>G (TTN)	XP_024308867.1:p.Ile12657Val
XM_024453100.1:c.27823A>G (TTN)	XP_024308868.1:p.Ile9275Val