Canonical Allele Identifier: CA140115

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47143
• ClinVar RCV Id: RCV000040413 ; RCV000642907 ; RCV002225278 ; RCV003952452
• dbSNP Id: rs397517640
• ExAC: 2:179457953 C / T
• gnomAD v2: 2-179457953-C-T
• gnomAD v3: 2-178593226-C-T
• gnomAD v4: 2-178593226-C-T
• MyVariant Identifiers: chr2:g.179457953C>T (hg19) ; chr2:g.178593226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593226C>T , CM000664.2:g.178593226C>T	GRCh38
NC_000002.11:g.179457953C>T , CM000664.1:g.179457953C>T	GRCh37
NC_000002.10:g.179166199C>T	NCBI36
NG_011618.3:g.242577G>A , LRG_391:g.242577G>A
NG_051363.1:g.75400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51278G>A (TTN)	ENSP00000343764.6:p.Gly17093Asp
ENST00000342175.11:c.32363G>A (TTN)	ENSP00000340554.6:p.Gly10788Asp
ENST00000359218.10:c.32162G>A (TTN)	ENSP00000352154.5:p.Gly10721Asp
ENST00000342175.10:c.32363G>A (TTN)	ENSP00000340554.6:p.Gly10788Asp
ENST00000342992.10:c.51278G>A (TTN)	ENSP00000343764.6:p.Gly17093Asp
ENST00000359218.9:c.32162G>A (TTN)	ENSP00000352154.5:p.Gly10721Asp
ENST00000460472.6:c.31787G>A (TTN)	ENSP00000434586.1:p.Gly10596Asp
ENST00000589042.5:c.58982G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly19661Asp
ENST00000591111.5:c.54059G>A (TTN)	ENSP00000465570.1:p.Gly18020Asp
ENST00000615779.4:c.54059G>A (TTN)	ENSP00000483597.1:p.Gly18020Asp
NM_001256850.1:c.54059G>A (TTN)	NP_001243779.1:p.Gly18020Asp
NM_001267550.2:c.58982G>A (TTN) MANE Select	NP_001254479.2:p.Gly19661Asp
NM_003319.4:c.31787G>A (TTN)	NP_003310.4:p.Gly10596Asp
NM_133378.4:c.51278G>A (TTN)	NP_596869.4:p.Gly17093Asp
NM_133432.3:c.32162G>A (TTN)	NP_597676.3:p.Gly10721Asp
NM_133437.4:c.32363G>A (TTN)	NP_597681.4:p.Gly10788Asp
NR_038271.1:n.597-4370C>T (TTN-AS1)
NR_038272.1:n.3364+1912C>T (TTN-AS1)
XM_011511729.1:c.58079G>A (TTN)	XP_011510031.1:p.Gly19360Asp
XM_011511730.1:c.31973G>A (TTN)	XP_011510032.1:p.Gly10658Asp
XM_011511731.1:c.31832G>A (TTN)	XP_011510033.1:p.Gly10611Asp
XM_017004819.1:c.57875G>A (TTN)	XP_016860308.1:p.Gly19292Asp
XM_017004820.1:c.53273G>A (TTN)	XP_016860309.1:p.Gly17758Asp
XM_017004821.1:c.53270G>A (TTN)	XP_016860310.1:p.Gly17757Asp
XM_017004822.1:c.50312G>A (TTN)	XP_016860311.1:p.Gly16771Asp
XM_017004823.1:c.31928G>A (TTN)	XP_016860312.1:p.Gly10643Asp
XM_024453094.1:c.53423G>A (TTN)	XP_024308862.1:p.Gly17808Asp
XM_024453095.1:c.53420G>A (TTN)	XP_024308863.1:p.Gly17807Asp
XM_024453096.1:c.52853G>A (TTN)	XP_024308864.1:p.Gly17618Asp
XM_024453097.1:c.50195G>A (TTN)	XP_024308865.1:p.Gly16732Asp
XM_024453098.1:c.50114G>A (TTN)	XP_024308866.1:p.Gly16705Asp
XM_024453099.1:c.31877G>A (TTN)	XP_024308867.1:p.Gly10626Asp
XM_024453100.1:c.21731G>A (TTN)	XP_024308868.1:p.Gly7244Asp