Canonical Allele Identifier: CA349462688

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 497143
• ClinVar RCV Id: RCV000598013 ; RCV001382385
• dbSNP Id: rs1553520967
• MyVariant Identifiers: chr2:g.179410612G>A (hg19) ; chr2:g.178545885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545885G>A , CM000664.2:g.178545885G>A	GRCh38
NC_000002.11:g.179410612G>A , CM000664.1:g.179410612G>A	GRCh37
NC_000002.10:g.179118858G>A	NCBI36
NG_011618.3:g.289918C>T , LRG_391:g.289918C>T
NG_051363.1:g.28059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87647C>T (TTN)	ENSP00000343764.6:p.Ala29216Val
ENST00000342175.11:c.68732C>T (TTN)	ENSP00000340554.6:p.Ala22911Val
ENST00000359218.10:c.68531C>T (TTN)	ENSP00000352154.5:p.Ala22844Val
ENST00000342175.10:c.68732C>T (TTN)	ENSP00000340554.6:p.Ala22911Val
ENST00000342992.10:c.87647C>T (TTN)	ENSP00000343764.6:p.Ala29216Val
ENST00000359218.9:c.68531C>T (TTN)	ENSP00000352154.5:p.Ala22844Val
ENST00000460472.6:c.68156C>T (TTN)	ENSP00000434586.1:p.Ala22719Val
ENST00000589042.5:c.95351C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala31784Val
ENST00000591111.5:c.90428C>T (TTN)	ENSP00000465570.1:p.Ala30143Val
ENST00000615779.4:c.90428C>T (TTN)	ENSP00000483597.1:p.Ala30143Val
NM_001256850.1:c.90428C>T (TTN)	NP_001243779.1:p.Ala30143Val
NM_001267550.2:c.95351C>T (TTN) MANE Select	NP_001254479.2:p.Ala31784Val
NM_003319.4:c.68156C>T (TTN)	NP_003310.4:p.Ala22719Val
NM_133378.4:c.87647C>T (TTN)	NP_596869.4:p.Ala29216Val
NM_133432.3:c.68531C>T (TTN)	NP_597676.3:p.Ala22844Val
NM_133437.4:c.68732C>T (TTN)	NP_597681.4:p.Ala22911Val
NR_038271.1:n.446+22249G>A (TTN-AS1)
NR_038272.1:n.2043+3524G>A (TTN-AS1)
XM_011511729.1:c.94448C>T (TTN)	XP_011510031.1:p.Ala31483Val
XM_011511730.1:c.68342C>T (TTN)	XP_011510032.1:p.Ala22781Val
XM_011511731.1:c.68201C>T (TTN)	XP_011510033.1:p.Ala22734Val
XM_017004819.1:c.94244C>T (TTN)	XP_016860308.1:p.Ala31415Val
XM_017004820.1:c.89642C>T (TTN)	XP_016860309.1:p.Ala29881Val
XM_017004821.1:c.89639C>T (TTN)	XP_016860310.1:p.Ala29880Val
XM_017004822.1:c.86681C>T (TTN)	XP_016860311.1:p.Ala28894Val
XM_017004823.1:c.68297C>T (TTN)	XP_016860312.1:p.Ala22766Val
XM_024453094.1:c.89792C>T (TTN)	XP_024308862.1:p.Ala29931Val
XM_024453095.1:c.89789C>T (TTN)	XP_024308863.1:p.Ala29930Val
XM_024453096.1:c.89222C>T (TTN)	XP_024308864.1:p.Ala29741Val
XM_024453097.1:c.86564C>T (TTN)	XP_024308865.1:p.Ala28855Val
XM_024453098.1:c.86483C>T (TTN)	XP_024308866.1:p.Ala28828Val
XM_024453099.1:c.68246C>T (TTN)	XP_024308867.1:p.Ala22749Val
XM_024453100.1:c.58100C>T (TTN)	XP_024308868.1:p.Ala19367Val