Canonical Allele Identifier: CA273264

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 165916
• ClinVar RCV Id: RCV000152265 ; RCV000328776 ; RCV000621593 ; RCV000642735
• dbSNP Id: rs727503586
• MyVariant Identifiers: chr2:g.179454235A>T (hg19) ; chr2:g.178589508A>T (hg38)
• PubMed: PMID:22335739

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589508A>T , CM000664.2:g.178589508A>T	GRCh38
NC_000002.11:g.179454235A>T , CM000664.1:g.179454235A>T	GRCh37
NC_000002.10:g.179162481A>T	NCBI36
NG_011618.3:g.246295T>A , LRG_391:g.246295T>A
NG_051363.1:g.71682A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.54513T>A (TTN)	ENSP00000343764.6:p.Tyr18171Ter
ENST00000342175.11:c.35598T>A (TTN)	ENSP00000340554.6:p.Tyr11866Ter
ENST00000359218.10:c.35397T>A (TTN)	ENSP00000352154.5:p.Tyr11799Ter
ENST00000342175.10:c.35598T>A (TTN)	ENSP00000340554.6:p.Tyr11866Ter
ENST00000342992.10:c.54513T>A (TTN)	ENSP00000343764.6:p.Tyr18171Ter
ENST00000359218.9:c.35397T>A (TTN)	ENSP00000352154.5:p.Tyr11799Ter
ENST00000460472.6:c.35022T>A (TTN)	ENSP00000434586.1:p.Tyr11674Ter
ENST00000589042.5:c.62217T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr20739Ter
ENST00000591111.5:c.57294T>A (TTN)	ENSP00000465570.1:p.Tyr19098Ter
ENST00000615779.4:c.57294T>A (TTN)	ENSP00000483597.1:p.Tyr19098Ter
NM_001256850.1:c.57294T>A (TTN)	NP_001243779.1:p.Tyr19098Ter
NM_001267550.2:c.62217T>A (TTN) MANE Select	NP_001254479.2:p.Tyr20739Ter
NM_003319.4:c.35022T>A (TTN)	NP_003310.4:p.Tyr11674Ter
NM_133378.4:c.54513T>A (TTN)	NP_596869.4:p.Tyr18171Ter
NM_133432.3:c.35397T>A (TTN)	NP_597676.3:p.Tyr11799Ter
NM_133437.4:c.35598T>A (TTN)	NP_597681.4:p.Tyr11866Ter
NR_038271.1:n.597-8088A>T (TTN-AS1)
NR_038272.1:n.3189-1631A>T (TTN-AS1)
XM_011511729.1:c.61314T>A (TTN)	XP_011510031.1:p.Tyr20438Ter
XM_011511730.1:c.35208T>A (TTN)	XP_011510032.1:p.Tyr11736Ter
XM_011511731.1:c.35067T>A (TTN)	XP_011510033.1:p.Tyr11689Ter
XM_017004819.1:c.61110T>A (TTN)	XP_016860308.1:p.Tyr20370Ter
XM_017004820.1:c.56508T>A (TTN)	XP_016860309.1:p.Tyr18836Ter
XM_017004821.1:c.56505T>A (TTN)	XP_016860310.1:p.Tyr18835Ter
XM_017004822.1:c.53547T>A (TTN)	XP_016860311.1:p.Tyr17849Ter
XM_017004823.1:c.35163T>A (TTN)	XP_016860312.1:p.Tyr11721Ter
XM_024453094.1:c.56658T>A (TTN)	XP_024308862.1:p.Tyr18886Ter
XM_024453095.1:c.56655T>A (TTN)	XP_024308863.1:p.Tyr18885Ter
XM_024453096.1:c.56088T>A (TTN)	XP_024308864.1:p.Tyr18696Ter
XM_024453097.1:c.53430T>A (TTN)	XP_024308865.1:p.Tyr17810Ter
XM_024453098.1:c.53349T>A (TTN)	XP_024308866.1:p.Tyr17783Ter
XM_024453099.1:c.35112T>A (TTN)	XP_024308867.1:p.Tyr11704Ter
XM_024453100.1:c.24966T>A (TTN)	XP_024308868.1:p.Tyr8322Ter