Canonical Allele Identifier: CA349526686

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466667
• ClinVar RCV Id: RCV001377726
• dbSNP Id: rs1436663696
• MyVariant Identifiers: chr2:g.179419624G>T (hg19) ; chr2:g.178554897G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178554897G>T , CM000664.2:g.178554897G>T	GRCh38
NC_000002.11:g.179419624G>T , CM000664.1:g.179419624G>T	GRCh37
NC_000002.10:g.179127870G>T	NCBI36
NG_011618.3:g.280906C>A , LRG_391:g.280906C>A
NG_051363.1:g.37071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80858C>A (TTN)	ENSP00000343764.6:p.Ser26953Ter
ENST00000342175.11:c.61943C>A (TTN)	ENSP00000340554.6:p.Ser20648Ter
ENST00000359218.10:c.61742C>A (TTN)	ENSP00000352154.5:p.Ser20581Ter
ENST00000342175.10:c.61943C>A (TTN)	ENSP00000340554.6:p.Ser20648Ter
ENST00000342992.10:c.80858C>A (TTN)	ENSP00000343764.6:p.Ser26953Ter
ENST00000359218.9:c.61742C>A (TTN)	ENSP00000352154.5:p.Ser20581Ter
ENST00000460472.6:c.61367C>A (TTN)	ENSP00000434586.1:p.Ser20456Ter
ENST00000589042.5:c.88562C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser29521Ter
ENST00000591111.5:c.83639C>A (TTN)	ENSP00000465570.1:p.Ser27880Ter
ENST00000615779.4:c.83639C>A (TTN)	ENSP00000483597.1:p.Ser27880Ter
NM_001256850.1:c.83639C>A (TTN)	NP_001243779.1:p.Ser27880Ter
NM_001267550.2:c.88562C>A (TTN) MANE Select	NP_001254479.2:p.Ser29521Ter
NM_003319.4:c.61367C>A (TTN)	NP_003310.4:p.Ser20456Ter
NM_133378.4:c.80858C>A (TTN)	NP_596869.4:p.Ser26953Ter
NM_133432.3:c.61742C>A (TTN)	NP_597676.3:p.Ser20581Ter
NM_133437.4:c.61943C>A (TTN)	NP_597681.4:p.Ser20648Ter
NR_038271.1:n.447-16403G>T (TTN-AS1)
NR_038272.1:n.2043+12536G>T (TTN-AS1)
XM_011511729.1:c.87659C>A (TTN)	XP_011510031.1:p.Ser29220Ter
XM_011511730.1:c.61553C>A (TTN)	XP_011510032.1:p.Ser20518Ter
XM_011511731.1:c.61412C>A (TTN)	XP_011510033.1:p.Ser20471Ter
XM_017004819.1:c.87455C>A (TTN)	XP_016860308.1:p.Ser29152Ter
XM_017004820.1:c.82853C>A (TTN)	XP_016860309.1:p.Ser27618Ter
XM_017004821.1:c.82850C>A (TTN)	XP_016860310.1:p.Ser27617Ter
XM_017004822.1:c.79892C>A (TTN)	XP_016860311.1:p.Ser26631Ter
XM_017004823.1:c.61508C>A (TTN)	XP_016860312.1:p.Ser20503Ter
XM_024453094.1:c.83003C>A (TTN)	XP_024308862.1:p.Ser27668Ter
XM_024453095.1:c.83000C>A (TTN)	XP_024308863.1:p.Ser27667Ter
XM_024453096.1:c.82433C>A (TTN)	XP_024308864.1:p.Ser27478Ter
XM_024453097.1:c.79775C>A (TTN)	XP_024308865.1:p.Ser26592Ter
XM_024453098.1:c.79694C>A (TTN)	XP_024308866.1:p.Ser26565Ter
XM_024453099.1:c.61457C>A (TTN)	XP_024308867.1:p.Ser20486Ter
XM_024453100.1:c.51311C>A (TTN)	XP_024308868.1:p.Ser17104Ter