Canonical Allele Identifier: CA141726

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47690
• ClinVar RCV Id: RCV000040959 ; RCV000172151 ; RCV001132330 ; RCV001132332 ; RCV001132331 ; RCV001132333 ; RCV001133260 ; RCV002483020 ; RCV002408537
• dbSNP Id: rs200782068
• ExAC: 2:179395926 G / A
• gnomAD v2: 2-179395926-G-A
• gnomAD v3: 2-178531199-G-A
• gnomAD v4: 2-178531199-G-A
• MyVariant Identifiers: chr2:g.179395926G>A (hg19) ; chr2:g.178531199G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531199G>A , CM000664.2:g.178531199G>A	GRCh38
NC_000002.11:g.179395926G>A , CM000664.1:g.179395926G>A	GRCh37
NC_000002.10:g.179104172G>A	NCBI36
NG_011618.3:g.304604C>T , LRG_391:g.304604C>T
NG_051363.1:g.13373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.97712C>T (TTN)	ENSP00000343764.6:p.Thr32571Ile
ENST00000342175.11:c.78797C>T (TTN)	ENSP00000340554.6:p.Thr26266Ile
ENST00000359218.10:c.78596C>T (TTN)	ENSP00000352154.5:p.Thr26199Ile
ENST00000342175.10:c.78797C>T (TTN)	ENSP00000340554.6:p.Thr26266Ile
ENST00000342992.10:c.97712C>T (TTN)	ENSP00000343764.6:p.Thr32571Ile
ENST00000359218.9:c.78596C>T (TTN)	ENSP00000352154.5:p.Thr26199Ile
ENST00000460472.6:c.78221C>T (TTN)	ENSP00000434586.1:p.Thr26074Ile
ENST00000589042.5:c.105416C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35139Ile
ENST00000591111.5:c.100493C>T (TTN)	ENSP00000465570.1:p.Thr33498Ile
ENST00000615779.4:c.100493C>T (TTN)	ENSP00000483597.1:p.Thr33498Ile
NM_001256850.1:c.100493C>T (TTN)	NP_001243779.1:p.Thr33498Ile
NM_001267550.2:c.105416C>T (TTN) MANE Select	NP_001254479.2:p.Thr35139Ile
NM_003319.4:c.78221C>T (TTN)	NP_003310.4:p.Thr26074Ile
NM_133378.4:c.97712C>T (TTN)	NP_596869.4:p.Thr32571Ile
NM_133432.3:c.78596C>T (TTN)	NP_597676.3:p.Thr26199Ile
NM_133437.4:c.78797C>T (TTN)	NP_597681.4:p.Thr26266Ile
NR_038271.1:n.446+7563G>A (TTN-AS1)
NR_038272.1:n.220-4533G>A (TTN-AS1)
XM_011511729.1:c.104513C>T (TTN)	XP_011510031.1:p.Thr34838Ile
XM_011511730.1:c.78407C>T (TTN)	XP_011510032.1:p.Thr26136Ile
XM_011511731.1:c.78266C>T (TTN)	XP_011510033.1:p.Thr26089Ile
XM_017004819.1:c.104309C>T (TTN)	XP_016860308.1:p.Thr34770Ile
XM_017004820.1:c.99707C>T (TTN)	XP_016860309.1:p.Thr33236Ile
XM_017004821.1:c.99704C>T (TTN)	XP_016860310.1:p.Thr33235Ile
XM_017004822.1:c.96746C>T (TTN)	XP_016860311.1:p.Thr32249Ile
XM_017004823.1:c.78362C>T (TTN)	XP_016860312.1:p.Thr26121Ile
XM_024453094.1:c.99857C>T (TTN)	XP_024308862.1:p.Thr33286Ile
XM_024453095.1:c.99854C>T (TTN)	XP_024308863.1:p.Thr33285Ile
XM_024453096.1:c.99287C>T (TTN)	XP_024308864.1:p.Thr33096Ile
XM_024453097.1:c.96629C>T (TTN)	XP_024308865.1:p.Thr32210Ile
XM_024453098.1:c.96548C>T (TTN)	XP_024308866.1:p.Thr32183Ile
XM_024453099.1:c.78311C>T (TTN)	XP_024308867.1:p.Thr26104Ile
XM_024453100.1:c.68165C>T (TTN)	XP_024308868.1:p.Thr22722Ile