Canonical Allele Identifier: CA349618632

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 518953
• ClinVar RCV Id: RCV000618810 ; RCV000800140 ; RCV003319989
• dbSNP Id: rs1553602546
• gnomAD v4: 2-178570158-C-T
• MyVariant Identifiers: chr2:g.179434885C>T (hg19) ; chr2:g.178570158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570158C>T , CM000664.2:g.178570158C>T	GRCh38
NC_000002.11:g.179434885C>T , CM000664.1:g.179434885C>T	GRCh37
NC_000002.10:g.179143131C>T	NCBI36
NG_011618.3:g.265645G>A , LRG_391:g.265645G>A
NG_051363.1:g.52332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68270G>A (TTN)	ENSP00000343764.6:p.Trp22757Ter
ENST00000342175.11:c.49355G>A (TTN)	ENSP00000340554.6:p.Trp16452Ter
ENST00000359218.10:c.49154G>A (TTN)	ENSP00000352154.5:p.Trp16385Ter
ENST00000342175.10:c.49355G>A (TTN)	ENSP00000340554.6:p.Trp16452Ter
ENST00000342992.10:c.68270G>A (TTN)	ENSP00000343764.6:p.Trp22757Ter
ENST00000359218.9:c.49154G>A (TTN)	ENSP00000352154.5:p.Trp16385Ter
ENST00000460472.6:c.48779G>A (TTN)	ENSP00000434586.1:p.Trp16260Ter
ENST00000589042.5:c.75974G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp25325Ter
ENST00000591111.5:c.71051G>A (TTN)	ENSP00000465570.1:p.Trp23684Ter
ENST00000615779.4:c.71051G>A (TTN)	ENSP00000483597.1:p.Trp23684Ter
NM_001256850.1:c.71051G>A (TTN)	NP_001243779.1:p.Trp23684Ter
NM_001267550.2:c.75974G>A (TTN) MANE Select	NP_001254479.2:p.Trp25325Ter
NM_003319.4:c.48779G>A (TTN)	NP_003310.4:p.Trp16260Ter
NM_133378.4:c.68270G>A (TTN)	NP_596869.4:p.Trp22757Ter
NM_133432.3:c.49154G>A (TTN)	NP_597676.3:p.Trp16385Ter
NM_133437.4:c.49355G>A (TTN)	NP_597681.4:p.Trp16452Ter
NR_038271.1:n.447-1142C>T (TTN-AS1)
NR_038272.1:n.2044-12414C>T (TTN-AS1)
XM_011511729.1:c.75071G>A (TTN)	XP_011510031.1:p.Trp25024Ter
XM_011511730.1:c.48965G>A (TTN)	XP_011510032.1:p.Trp16322Ter
XM_011511731.1:c.48824G>A (TTN)	XP_011510033.1:p.Trp16275Ter
XM_017004819.1:c.74867G>A (TTN)	XP_016860308.1:p.Trp24956Ter
XM_017004820.1:c.70265G>A (TTN)	XP_016860309.1:p.Trp23422Ter
XM_017004821.1:c.70262G>A (TTN)	XP_016860310.1:p.Trp23421Ter
XM_017004822.1:c.67304G>A (TTN)	XP_016860311.1:p.Trp22435Ter
XM_017004823.1:c.48920G>A (TTN)	XP_016860312.1:p.Trp16307Ter
XM_024453094.1:c.70415G>A (TTN)	XP_024308862.1:p.Trp23472Ter
XM_024453095.1:c.70412G>A (TTN)	XP_024308863.1:p.Trp23471Ter
XM_024453096.1:c.69845G>A (TTN)	XP_024308864.1:p.Trp23282Ter
XM_024453097.1:c.67187G>A (TTN)	XP_024308865.1:p.Trp22396Ter
XM_024453098.1:c.67106G>A (TTN)	XP_024308866.1:p.Trp22369Ter
XM_024453099.1:c.48869G>A (TTN)	XP_024308867.1:p.Trp16290Ter
XM_024453100.1:c.38723G>A (TTN)	XP_024308868.1:p.Trp12908Ter