Canonical Allele Identifier: CA349411801

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 857982
• ClinVar RCV Id: RCV001063762
• dbSNP Id: rs1689437836
• COSMIC: COSM3570446 ; COSM3570447 ; COSM3570448 ; COSM3570449
• MyVariant Identifiers: chr2:g.179396937T>A (hg19) ; chr2:g.178532210T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532210T>A , CM000664.2:g.178532210T>A	GRCh38
NC_000002.11:g.179396937T>A , CM000664.1:g.179396937T>A	GRCh37
NC_000002.10:g.179105183T>A	NCBI36
NG_011618.3:g.303593A>T , LRG_391:g.303593A>T
NG_051363.1:g.14384T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96701A>T (TTN)	ENSP00000343764.6:p.Lys32234Ile
ENST00000342175.11:c.77786A>T (TTN)	ENSP00000340554.6:p.Lys25929Ile
ENST00000359218.10:c.77585A>T (TTN)	ENSP00000352154.5:p.Lys25862Ile
ENST00000342175.10:c.77786A>T (TTN)	ENSP00000340554.6:p.Lys25929Ile
ENST00000342992.10:c.96701A>T (TTN)	ENSP00000343764.6:p.Lys32234Ile
ENST00000359218.9:c.77585A>T (TTN)	ENSP00000352154.5:p.Lys25862Ile
ENST00000460472.6:c.77210A>T (TTN)	ENSP00000434586.1:p.Lys25737Ile
ENST00000589042.5:c.104405A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys34802Ile
ENST00000591111.5:c.99482A>T (TTN)	ENSP00000465570.1:p.Lys33161Ile
ENST00000615779.4:c.99482A>T (TTN)	ENSP00000483597.1:p.Lys33161Ile
NM_001256850.1:c.99482A>T (TTN)	NP_001243779.1:p.Lys33161Ile
NM_001267550.2:c.104405A>T (TTN) MANE Select	NP_001254479.2:p.Lys34802Ile
NM_003319.4:c.77210A>T (TTN)	NP_003310.4:p.Lys25737Ile
NM_133378.4:c.96701A>T (TTN)	NP_596869.4:p.Lys32234Ile
NM_133432.3:c.77585A>T (TTN)	NP_597676.3:p.Lys25862Ile
NM_133437.4:c.77786A>T (TTN)	NP_597681.4:p.Lys25929Ile
NR_038271.1:n.446+8574T>A (TTN-AS1)
NR_038272.1:n.220-3522T>A (TTN-AS1)
XM_011511729.1:c.103502A>T (TTN)	XP_011510031.1:p.Lys34501Ile
XM_011511730.1:c.77396A>T (TTN)	XP_011510032.1:p.Lys25799Ile
XM_011511731.1:c.77255A>T (TTN)	XP_011510033.1:p.Lys25752Ile
XM_017004819.1:c.103298A>T (TTN)	XP_016860308.1:p.Lys34433Ile
XM_017004820.1:c.98696A>T (TTN)	XP_016860309.1:p.Lys32899Ile
XM_017004821.1:c.98693A>T (TTN)	XP_016860310.1:p.Lys32898Ile
XM_017004822.1:c.95735A>T (TTN)	XP_016860311.1:p.Lys31912Ile
XM_017004823.1:c.77351A>T (TTN)	XP_016860312.1:p.Lys25784Ile
XM_024453094.1:c.98846A>T (TTN)	XP_024308862.1:p.Lys32949Ile
XM_024453095.1:c.98843A>T (TTN)	XP_024308863.1:p.Lys32948Ile
XM_024453096.1:c.98276A>T (TTN)	XP_024308864.1:p.Lys32759Ile
XM_024453097.1:c.95618A>T (TTN)	XP_024308865.1:p.Lys31873Ile
XM_024453098.1:c.95537A>T (TTN)	XP_024308866.1:p.Lys31846Ile
XM_024453099.1:c.77300A>T (TTN)	XP_024308867.1:p.Lys25767Ile
XM_024453100.1:c.67154A>T (TTN)	XP_024308868.1:p.Lys22385Ile