Canonical Allele Identifier: CA10613227

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332745
• ClinVar RCV Id: RCV000298686 ; RCV000311566 ; RCV000338451 ; RCV000353682 ; RCV000406628 ; RCV000841325
• dbSNP Id: rs886055234
• gnomAD v4: 2-178560591-T-A
• MyVariant Identifiers: chr2:g.179425318T>A (hg19) ; chr2:g.178560591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560591T>A , CM000664.2:g.178560591T>A	GRCh38
NC_000002.11:g.179425318T>A , CM000664.1:g.179425318T>A	GRCh37
NC_000002.10:g.179133564T>A	NCBI36
NG_011618.3:g.275212A>T , LRG_391:g.275212A>T
NG_051363.1:g.42765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.77837A>T (TTN)	ENSP00000343764.6:p.Lys25946Met
ENST00000342175.11:c.58922A>T (TTN)	ENSP00000340554.6:p.Lys19641Met
ENST00000359218.10:c.58721A>T (TTN)	ENSP00000352154.5:p.Lys19574Met
ENST00000342175.10:c.58922A>T (TTN)	ENSP00000340554.6:p.Lys19641Met
ENST00000342992.10:c.77837A>T (TTN)	ENSP00000343764.6:p.Lys25946Met
ENST00000359218.9:c.58721A>T (TTN)	ENSP00000352154.5:p.Lys19574Met
ENST00000460472.6:c.58346A>T (TTN)	ENSP00000434586.1:p.Lys19449Met
ENST00000589042.5:c.85541A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys28514Met
ENST00000591111.5:c.80618A>T (TTN)	ENSP00000465570.1:p.Lys26873Met
ENST00000615779.4:c.80618A>T (TTN)	ENSP00000483597.1:p.Lys26873Met
NM_001256850.1:c.80618A>T (TTN)	NP_001243779.1:p.Lys26873Met
NM_001267550.2:c.85541A>T (TTN) MANE Select	NP_001254479.2:p.Lys28514Met
NM_003319.4:c.58346A>T (TTN)	NP_003310.4:p.Lys19449Met
NM_133378.4:c.77837A>T (TTN)	NP_596869.4:p.Lys25946Met
NM_133432.3:c.58721A>T (TTN)	NP_597676.3:p.Lys19574Met
NM_133437.4:c.58922A>T (TTN)	NP_597681.4:p.Lys19641Met
NR_038271.1:n.447-10709T>A (TTN-AS1)
NR_038272.1:n.2043+18230T>A (TTN-AS1)
XM_011511729.1:c.84638A>T (TTN)	XP_011510031.1:p.Lys28213Met
XM_011511730.1:c.58532A>T (TTN)	XP_011510032.1:p.Lys19511Met
XM_011511731.1:c.58391A>T (TTN)	XP_011510033.1:p.Lys19464Met
XM_017004819.1:c.84434A>T (TTN)	XP_016860308.1:p.Lys28145Met
XM_017004820.1:c.79832A>T (TTN)	XP_016860309.1:p.Lys26611Met
XM_017004821.1:c.79829A>T (TTN)	XP_016860310.1:p.Lys26610Met
XM_017004822.1:c.76871A>T (TTN)	XP_016860311.1:p.Lys25624Met
XM_017004823.1:c.58487A>T (TTN)	XP_016860312.1:p.Lys19496Met
XM_024453094.1:c.79982A>T (TTN)	XP_024308862.1:p.Lys26661Met
XM_024453095.1:c.79979A>T (TTN)	XP_024308863.1:p.Lys26660Met
XM_024453096.1:c.79412A>T (TTN)	XP_024308864.1:p.Lys26471Met
XM_024453097.1:c.76754A>T (TTN)	XP_024308865.1:p.Lys25585Met
XM_024453098.1:c.76673A>T (TTN)	XP_024308866.1:p.Lys25558Met
XM_024453099.1:c.58436A>T (TTN)	XP_024308867.1:p.Lys19479Met
XM_024453100.1:c.48290A>T (TTN)	XP_024308868.1:p.Lys16097Met