Canonical Allele Identifier: CA16610218

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 405084
• ClinVar RCV Id: RCV000462926
• dbSNP Id: rs1060500553
• MyVariant Identifiers: chr2:g.179401280T>A (hg19) ; chr2:g.178536553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536553T>A , CM000664.2:g.178536553T>A	GRCh38
NC_000002.11:g.179401280T>A , CM000664.1:g.179401280T>A	GRCh37
NC_000002.10:g.179109526T>A	NCBI36
NG_011618.3:g.299250A>T , LRG_391:g.299250A>T
NG_051363.1:g.18727T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92490A>T (TTN)	ENSP00000343764.6:p.Lys30830Asn
ENST00000342175.11:c.73575A>T (TTN)	ENSP00000340554.6:p.Lys24525Asn
ENST00000359218.10:c.73374A>T (TTN)	ENSP00000352154.5:p.Lys24458Asn
ENST00000342175.10:c.73575A>T (TTN)	ENSP00000340554.6:p.Lys24525Asn
ENST00000342992.10:c.92490A>T (TTN)	ENSP00000343764.6:p.Lys30830Asn
ENST00000359218.9:c.73374A>T (TTN)	ENSP00000352154.5:p.Lys24458Asn
ENST00000460472.6:c.72999A>T (TTN)	ENSP00000434586.1:p.Lys24333Asn
ENST00000589042.5:c.100194A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys33398Asn
ENST00000591111.5:c.95271A>T (TTN)	ENSP00000465570.1:p.Lys31757Asn
ENST00000615779.4:c.95271A>T (TTN)	ENSP00000483597.1:p.Lys31757Asn
NM_001256850.1:c.95271A>T (TTN)	NP_001243779.1:p.Lys31757Asn
NM_001267550.2:c.100194A>T (TTN) MANE Select	NP_001254479.2:p.Lys33398Asn
NM_003319.4:c.72999A>T (TTN)	NP_003310.4:p.Lys24333Asn
NM_133378.4:c.92490A>T (TTN)	NP_596869.4:p.Lys30830Asn
NM_133432.3:c.73374A>T (TTN)	NP_597676.3:p.Lys24458Asn
NM_133437.4:c.73575A>T (TTN)	NP_597681.4:p.Lys24525Asn
NR_038271.1:n.446+12917T>A (TTN-AS1)
NR_038272.1:n.316+725T>A (TTN-AS1)
XM_011511729.1:c.99291A>T (TTN)	XP_011510031.1:p.Lys33097Asn
XM_011511730.1:c.73185A>T (TTN)	XP_011510032.1:p.Lys24395Asn
XM_011511731.1:c.73044A>T (TTN)	XP_011510033.1:p.Lys24348Asn
XM_017004819.1:c.99087A>T (TTN)	XP_016860308.1:p.Lys33029Asn
XM_017004820.1:c.94485A>T (TTN)	XP_016860309.1:p.Lys31495Asn
XM_017004821.1:c.94482A>T (TTN)	XP_016860310.1:p.Lys31494Asn
XM_017004822.1:c.91524A>T (TTN)	XP_016860311.1:p.Lys30508Asn
XM_017004823.1:c.73140A>T (TTN)	XP_016860312.1:p.Lys24380Asn
XM_024453094.1:c.94635A>T (TTN)	XP_024308862.1:p.Lys31545Asn
XM_024453095.1:c.94632A>T (TTN)	XP_024308863.1:p.Lys31544Asn
XM_024453096.1:c.94065A>T (TTN)	XP_024308864.1:p.Lys31355Asn
XM_024453097.1:c.91407A>T (TTN)	XP_024308865.1:p.Lys30469Asn
XM_024453098.1:c.91326A>T (TTN)	XP_024308866.1:p.Lys30442Asn
XM_024453099.1:c.73089A>T (TTN)	XP_024308867.1:p.Lys24363Asn
XM_024453100.1:c.62943A>T (TTN)	XP_024308868.1:p.Lys20981Asn