Canonical Allele Identifier: CA1985424

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1315440
• ClinVar RCV Id: RCV001774690 ; RCV002540605
• dbSNP Id: rs1553488294
• ExAC: 2:179396887 A / G
• gnomAD v4: 2-178532160-A-G
• MyVariant Identifiers: chr2:g.179396887A>G (hg19) ; chr2:g.179396887_179396890delinsGTTC (hg19) ; chr2:g.178532160A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532160A>G , CM000664.2:g.178532160A>G	GRCh38
NC_000002.11:g.179396887A>G , CM000664.1:g.179396887A>G	GRCh37
NC_000002.10:g.179105133A>G	NCBI36
NG_011618.3:g.303643T>C , LRG_391:g.303643T>C
NG_051363.1:g.14334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96751T>C (TTN)	ENSP00000343764.6:p.Tyr32251His
ENST00000342175.11:c.77836T>C (TTN)	ENSP00000340554.6:p.Tyr25946His
ENST00000359218.10:c.77635T>C (TTN)	ENSP00000352154.5:p.Tyr25879His
ENST00000342175.10:c.77836T>C (TTN)	ENSP00000340554.6:p.Tyr25946His
ENST00000342992.10:c.96751T>C (TTN)	ENSP00000343764.6:p.Tyr32251His
ENST00000359218.9:c.77635T>C (TTN)	ENSP00000352154.5:p.Tyr25879His
ENST00000460472.6:c.77260T>C (TTN)	ENSP00000434586.1:p.Tyr25754His
ENST00000589042.5:c.104455T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr34819His
ENST00000591111.5:c.99532T>C (TTN)	ENSP00000465570.1:p.Tyr33178His
ENST00000615779.4:c.99532T>C (TTN)	ENSP00000483597.1:p.Tyr33178His
NM_001256850.1:c.99532T>C (TTN)	NP_001243779.1:p.Tyr33178His
NM_001267550.2:c.104455T>C (TTN) MANE Select	NP_001254479.2:p.Tyr34819His
NM_003319.4:c.77260T>C (TTN)	NP_003310.4:p.Tyr25754His
NM_133378.4:c.96751T>C (TTN)	NP_596869.4:p.Tyr32251His
NM_133432.3:c.77635T>C (TTN)	NP_597676.3:p.Tyr25879His
NM_133437.4:c.77836T>C (TTN)	NP_597681.4:p.Tyr25946His
NR_038271.1:n.446+8524A>G (TTN-AS1)
NR_038272.1:n.220-3572A>G (TTN-AS1)
XM_011511729.1:c.103552T>C (TTN)	XP_011510031.1:p.Tyr34518His
XM_011511730.1:c.77446T>C (TTN)	XP_011510032.1:p.Tyr25816His
XM_011511731.1:c.77305T>C (TTN)	XP_011510033.1:p.Tyr25769His
XM_017004819.1:c.103348T>C (TTN)	XP_016860308.1:p.Tyr34450His
XM_017004820.1:c.98746T>C (TTN)	XP_016860309.1:p.Tyr32916His
XM_017004821.1:c.98743T>C (TTN)	XP_016860310.1:p.Tyr32915His
XM_017004822.1:c.95785T>C (TTN)	XP_016860311.1:p.Tyr31929His
XM_017004823.1:c.77401T>C (TTN)	XP_016860312.1:p.Tyr25801His
XM_024453094.1:c.98896T>C (TTN)	XP_024308862.1:p.Tyr32966His
XM_024453095.1:c.98893T>C (TTN)	XP_024308863.1:p.Tyr32965His
XM_024453096.1:c.98326T>C (TTN)	XP_024308864.1:p.Tyr32776His
XM_024453097.1:c.95668T>C (TTN)	XP_024308865.1:p.Tyr31890His
XM_024453098.1:c.95587T>C (TTN)	XP_024308866.1:p.Tyr31863His
XM_024453099.1:c.77350T>C (TTN)	XP_024308867.1:p.Tyr25784His
XM_024453100.1:c.67204T>C (TTN)	XP_024308868.1:p.Tyr22402His