Canonical Allele Identifier: CA349599445

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 430400
• ClinVar RCV Id: RCV000493413 ; RCV000642795
• dbSNP Id: rs1131691944
• MyVariant Identifiers: chr2:g.179431718T>A (hg19) ; chr2:g.178566991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566991T>A , CM000664.2:g.178566991T>A	GRCh38
NC_000002.11:g.179431718T>A , CM000664.1:g.179431718T>A	GRCh37
NC_000002.10:g.179139964T>A	NCBI36
NG_011618.3:g.268812A>T , LRG_391:g.268812A>T
NG_051363.1:g.49165T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71437A>T (TTN)	ENSP00000343764.6:p.Lys23813Ter
ENST00000342175.11:c.52522A>T (TTN)	ENSP00000340554.6:p.Lys17508Ter
ENST00000359218.10:c.52321A>T (TTN)	ENSP00000352154.5:p.Lys17441Ter
ENST00000342175.10:c.52522A>T (TTN)	ENSP00000340554.6:p.Lys17508Ter
ENST00000342992.10:c.71437A>T (TTN)	ENSP00000343764.6:p.Lys23813Ter
ENST00000359218.9:c.52321A>T (TTN)	ENSP00000352154.5:p.Lys17441Ter
ENST00000460472.6:c.51946A>T (TTN)	ENSP00000434586.1:p.Lys17316Ter
ENST00000589042.5:c.79141A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys26381Ter
ENST00000591111.5:c.74218A>T (TTN)	ENSP00000465570.1:p.Lys24740Ter
ENST00000615779.4:c.74218A>T (TTN)	ENSP00000483597.1:p.Lys24740Ter
NM_001256850.1:c.74218A>T (TTN)	NP_001243779.1:p.Lys24740Ter
NM_001267550.2:c.79141A>T (TTN) MANE Select	NP_001254479.2:p.Lys26381Ter
NM_003319.4:c.51946A>T (TTN)	NP_003310.4:p.Lys17316Ter
NM_133378.4:c.71437A>T (TTN)	NP_596869.4:p.Lys23813Ter
NM_133432.3:c.52321A>T (TTN)	NP_597676.3:p.Lys17441Ter
NM_133437.4:c.52522A>T (TTN)	NP_597681.4:p.Lys17508Ter
NR_038271.1:n.447-4309T>A (TTN-AS1)
NR_038272.1:n.2044-15581T>A (TTN-AS1)
XM_011511729.1:c.78238A>T (TTN)	XP_011510031.1:p.Lys26080Ter
XM_011511730.1:c.52132A>T (TTN)	XP_011510032.1:p.Lys17378Ter
XM_011511731.1:c.51991A>T (TTN)	XP_011510033.1:p.Lys17331Ter
XM_017004819.1:c.78034A>T (TTN)	XP_016860308.1:p.Lys26012Ter
XM_017004820.1:c.73432A>T (TTN)	XP_016860309.1:p.Lys24478Ter
XM_017004821.1:c.73429A>T (TTN)	XP_016860310.1:p.Lys24477Ter
XM_017004822.1:c.70471A>T (TTN)	XP_016860311.1:p.Lys23491Ter
XM_017004823.1:c.52087A>T (TTN)	XP_016860312.1:p.Lys17363Ter
XM_024453094.1:c.73582A>T (TTN)	XP_024308862.1:p.Lys24528Ter
XM_024453095.1:c.73579A>T (TTN)	XP_024308863.1:p.Lys24527Ter
XM_024453096.1:c.73012A>T (TTN)	XP_024308864.1:p.Lys24338Ter
XM_024453097.1:c.70354A>T (TTN)	XP_024308865.1:p.Lys23452Ter
XM_024453098.1:c.70273A>T (TTN)	XP_024308866.1:p.Lys23425Ter
XM_024453099.1:c.52036A>T (TTN)	XP_024308867.1:p.Lys17346Ter
XM_024453100.1:c.41890A>T (TTN)	XP_024308868.1:p.Lys13964Ter