Canonical Allele Identifier: CA349623212

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 429682
• ClinVar RCV Id: RCV000493509 ; RCV003766775
• dbSNP Id: rs1131691528
• MyVariant Identifiers: chr2:g.179484435G>A (hg19) ; chr2:g.178619708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178619708G>A , CM000664.2:g.178619708G>A	GRCh38
NC_000002.11:g.179484435G>A , CM000664.1:g.179484435G>A	GRCh37
NC_000002.10:g.179192680G>A	NCBI36
NG_011618.3:g.216095C>T , LRG_391:g.216095C>T
NG_051363.1:g.101882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38905C>T (TTN)	ENSP00000343764.6:p.Gln12969Ter
ENST00000342175.11:c.19990C>T (TTN)	ENSP00000340554.6:p.Gln6664Ter
ENST00000359218.10:c.19789C>T (TTN)	ENSP00000352154.5:p.Gln6597Ter
ENST00000342175.10:c.19990C>T (TTN)	ENSP00000340554.6:p.Gln6664Ter
ENST00000342992.10:c.38905C>T (TTN)	ENSP00000343764.6:p.Gln12969Ter
ENST00000359218.9:c.19789C>T (TTN)	ENSP00000352154.5:p.Gln6597Ter
ENST00000460472.6:c.19414C>T (TTN)	ENSP00000434586.1:p.Gln6472Ter
ENST00000589042.5:c.46609C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln15537Ter
ENST00000591111.5:c.41686C>T (TTN)	ENSP00000465570.1:p.Gln13896Ter
ENST00000615779.4:c.41686C>T (TTN)	ENSP00000483597.1:p.Gln13896Ter
NM_001256850.1:c.41686C>T (TTN)	NP_001243779.1:p.Gln13896Ter
NM_001267550.2:c.46609C>T (TTN) MANE Select	NP_001254479.2:p.Gln15537Ter
NM_003319.4:c.19414C>T (TTN)	NP_003310.4:p.Gln6472Ter
NM_133378.4:c.38905C>T (TTN)	NP_596869.4:p.Gln12969Ter
NM_133432.3:c.19789C>T (TTN)	NP_597676.3:p.Gln6597Ter
NM_133437.4:c.19990C>T (TTN)	NP_597681.4:p.Gln6664Ter
NR_038271.1:n.1605-45G>A (TTN-AS1)
XM_011511729.1:c.45706C>T (TTN)	XP_011510031.1:p.Gln15236Ter
XM_011511730.1:c.19600C>T (TTN)	XP_011510032.1:p.Gln6534Ter
XM_011511731.1:c.19459C>T (TTN)	XP_011510033.1:p.Gln6487Ter
XM_017004819.1:c.45502C>T (TTN)	XP_016860308.1:p.Gln15168Ter
XM_017004820.1:c.40900C>T (TTN)	XP_016860309.1:p.Gln13634Ter
XM_017004821.1:c.40897C>T (TTN)	XP_016860310.1:p.Gln13633Ter
XM_017004822.1:c.37939C>T (TTN)	XP_016860311.1:p.Gln12647Ter
XM_017004823.1:c.19555C>T (TTN)	XP_016860312.1:p.Gln6519Ter
XM_024453094.1:c.41050C>T (TTN)	XP_024308862.1:p.Gln13684Ter
XM_024453095.1:c.41047C>T (TTN)	XP_024308863.1:p.Gln13683Ter
XM_024453096.1:c.40480C>T (TTN)	XP_024308864.1:p.Gln13494Ter
XM_024453097.1:c.37822C>T (TTN)	XP_024308865.1:p.Gln12608Ter
XM_024453098.1:c.37741C>T (TTN)	XP_024308866.1:p.Gln12581Ter
XM_024453099.1:c.19504C>T (TTN)	XP_024308867.1:p.Gln6502Ter
XM_024453100.1:c.9358C>T (TTN)	XP_024308868.1:p.Gln3120Ter