Canonical Allele Identifier: CA60986821

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 488810
• ClinVar RCV Id: RCV000579232 ; RCV000622457 ; RCV001798900 ; RCV003159974 ; RCV000763467 ; RCV001379494
• dbSNP Id: rs869178171
• COSMIC: COSM5641133 ; COSM5641134 ; COSM5641135 ; COSM5641136
• MyVariant Identifiers: chr2:g.179428202C>A (hg19) ; chr2:g.178563475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178563475C>A , CM000664.2:g.178563475C>A	GRCh38
NC_000002.11:g.179428202C>A , CM000664.1:g.179428202C>A	GRCh37
NC_000002.10:g.179136448C>A	NCBI36
NG_011618.3:g.272328G>T , LRG_391:g.272328G>T
NG_051363.1:g.45649C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.74953G>T (TTN)	ENSP00000343764.6:p.Gly24985Ter
ENST00000342175.11:c.56038G>T (TTN)	ENSP00000340554.6:p.Gly18680Ter
ENST00000359218.10:c.55837G>T (TTN)	ENSP00000352154.5:p.Gly18613Ter
ENST00000342175.10:c.56038G>T (TTN)	ENSP00000340554.6:p.Gly18680Ter
ENST00000342992.10:c.74953G>T (TTN)	ENSP00000343764.6:p.Gly24985Ter
ENST00000359218.9:c.55837G>T (TTN)	ENSP00000352154.5:p.Gly18613Ter
ENST00000460472.6:c.55462G>T (TTN)	ENSP00000434586.1:p.Gly18488Ter
ENST00000589042.5:c.82657G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly27553Ter
ENST00000591111.5:c.77734G>T (TTN)	ENSP00000465570.1:p.Gly25912Ter
ENST00000615779.4:c.77734G>T (TTN)	ENSP00000483597.1:p.Gly25912Ter
NM_001256850.1:c.77734G>T (TTN)	NP_001243779.1:p.Gly25912Ter
NM_001267550.2:c.82657G>T (TTN) MANE Select	NP_001254479.2:p.Gly27553Ter
NM_003319.4:c.55462G>T (TTN)	NP_003310.4:p.Gly18488Ter
NM_133378.4:c.74953G>T (TTN)	NP_596869.4:p.Gly24985Ter
NM_133432.3:c.55837G>T (TTN)	NP_597676.3:p.Gly18613Ter
NM_133437.4:c.56038G>T (TTN)	NP_597681.4:p.Gly18680Ter
NR_038271.1:n.447-7825C>A (TTN-AS1)
NR_038272.1:n.2044-19097C>A (TTN-AS1)
XM_011511729.1:c.81754G>T (TTN)	XP_011510031.1:p.Gly27252Ter
XM_011511730.1:c.55648G>T (TTN)	XP_011510032.1:p.Gly18550Ter
XM_011511731.1:c.55507G>T (TTN)	XP_011510033.1:p.Gly18503Ter
XM_017004819.1:c.81550G>T (TTN)	XP_016860308.1:p.Gly27184Ter
XM_017004820.1:c.76948G>T (TTN)	XP_016860309.1:p.Gly25650Ter
XM_017004821.1:c.76945G>T (TTN)	XP_016860310.1:p.Gly25649Ter
XM_017004822.1:c.73987G>T (TTN)	XP_016860311.1:p.Gly24663Ter
XM_017004823.1:c.55603G>T (TTN)	XP_016860312.1:p.Gly18535Ter
XM_024453094.1:c.77098G>T (TTN)	XP_024308862.1:p.Gly25700Ter
XM_024453095.1:c.77095G>T (TTN)	XP_024308863.1:p.Gly25699Ter
XM_024453096.1:c.76528G>T (TTN)	XP_024308864.1:p.Gly25510Ter
XM_024453097.1:c.73870G>T (TTN)	XP_024308865.1:p.Gly24624Ter
XM_024453098.1:c.73789G>T (TTN)	XP_024308866.1:p.Gly24597Ter
XM_024453099.1:c.55552G>T (TTN)	XP_024308867.1:p.Gly18518Ter
XM_024453100.1:c.45406G>T (TTN)	XP_024308868.1:p.Gly15136Ter