Canonical Allele Identifier: CA141674

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47672
• ClinVar RCV Id: RCV000040941 ; RCV002399393
• dbSNP Id: rs115150240
• gnomAD v4: 2-178532201-C-A
• MyVariant Identifiers: chr2:g.179396928C>A (hg19) ; chr2:g.178532201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532201C>A , CM000664.2:g.178532201C>A	GRCh38
NC_000002.11:g.179396928C>A , CM000664.1:g.179396928C>A	GRCh37
NC_000002.10:g.179105174C>A	NCBI36
NG_011618.3:g.303602G>T , LRG_391:g.303602G>T
NG_051363.1:g.14375C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96710G>T (TTN)	ENSP00000343764.6:p.Arg32237Leu
ENST00000342175.11:c.77795G>T (TTN)	ENSP00000340554.6:p.Arg25932Leu
ENST00000359218.10:c.77594G>T (TTN)	ENSP00000352154.5:p.Arg25865Leu
ENST00000342175.10:c.77795G>T (TTN)	ENSP00000340554.6:p.Arg25932Leu
ENST00000342992.10:c.96710G>T (TTN)	ENSP00000343764.6:p.Arg32237Leu
ENST00000359218.9:c.77594G>T (TTN)	ENSP00000352154.5:p.Arg25865Leu
ENST00000460472.6:c.77219G>T (TTN)	ENSP00000434586.1:p.Arg25740Leu
ENST00000589042.5:c.104414G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg34805Leu
ENST00000591111.5:c.99491G>T (TTN)	ENSP00000465570.1:p.Arg33164Leu
ENST00000615779.4:c.99491G>T (TTN)	ENSP00000483597.1:p.Arg33164Leu
NM_001256850.1:c.99491G>T (TTN)	NP_001243779.1:p.Arg33164Leu
NM_001267550.2:c.104414G>T (TTN) MANE Select	NP_001254479.2:p.Arg34805Leu
NM_003319.4:c.77219G>T (TTN)	NP_003310.4:p.Arg25740Leu
NM_133378.4:c.96710G>T (TTN)	NP_596869.4:p.Arg32237Leu
NM_133432.3:c.77594G>T (TTN)	NP_597676.3:p.Arg25865Leu
NM_133437.4:c.77795G>T (TTN)	NP_597681.4:p.Arg25932Leu
NR_038271.1:n.446+8565C>A (TTN-AS1)
NR_038272.1:n.220-3531C>A (TTN-AS1)
XM_011511729.1:c.103511G>T (TTN)	XP_011510031.1:p.Arg34504Leu
XM_011511730.1:c.77405G>T (TTN)	XP_011510032.1:p.Arg25802Leu
XM_011511731.1:c.77264G>T (TTN)	XP_011510033.1:p.Arg25755Leu
XM_017004819.1:c.103307G>T (TTN)	XP_016860308.1:p.Arg34436Leu
XM_017004820.1:c.98705G>T (TTN)	XP_016860309.1:p.Arg32902Leu
XM_017004821.1:c.98702G>T (TTN)	XP_016860310.1:p.Arg32901Leu
XM_017004822.1:c.95744G>T (TTN)	XP_016860311.1:p.Arg31915Leu
XM_017004823.1:c.77360G>T (TTN)	XP_016860312.1:p.Arg25787Leu
XM_024453094.1:c.98855G>T (TTN)	XP_024308862.1:p.Arg32952Leu
XM_024453095.1:c.98852G>T (TTN)	XP_024308863.1:p.Arg32951Leu
XM_024453096.1:c.98285G>T (TTN)	XP_024308864.1:p.Arg32762Leu
XM_024453097.1:c.95627G>T (TTN)	XP_024308865.1:p.Arg31876Leu
XM_024453098.1:c.95546G>T (TTN)	XP_024308866.1:p.Arg31849Leu
XM_024453099.1:c.77309G>T (TTN)	XP_024308867.1:p.Arg25770Leu
XM_024453100.1:c.67163G>T (TTN)	XP_024308868.1:p.Arg22388Leu