Canonical Allele Identifier: CA349466989

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 499638
• ClinVar RCV Id: RCV000592411 ; RCV002341523
• dbSNP Id: rs1363633199
• gnomAD v4: 2-178589758-G-A
• COSMIC: COSM718259 ; COSM718260 ; COSM718261 ; COSM1148604
• MyVariant Identifiers: chr2:g.179454485G>A (hg19) ; chr2:g.178589758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589758G>A , CM000664.2:g.178589758G>A	GRCh38
NC_000002.11:g.179454485G>A , CM000664.1:g.179454485G>A	GRCh37
NC_000002.10:g.179162731G>A	NCBI36
NG_011618.3:g.246045C>T , LRG_391:g.246045C>T
NG_051363.1:g.71932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.54263C>T (TTN)	ENSP00000343764.6:p.Thr18088Ile
ENST00000342175.11:c.35348C>T (TTN)	ENSP00000340554.6:p.Thr11783Ile
ENST00000359218.10:c.35147C>T (TTN)	ENSP00000352154.5:p.Thr11716Ile
ENST00000342175.10:c.35348C>T (TTN)	ENSP00000340554.6:p.Thr11783Ile
ENST00000342992.10:c.54263C>T (TTN)	ENSP00000343764.6:p.Thr18088Ile
ENST00000359218.9:c.35147C>T (TTN)	ENSP00000352154.5:p.Thr11716Ile
ENST00000460472.6:c.34772C>T (TTN)	ENSP00000434586.1:p.Thr11591Ile
ENST00000589042.5:c.61967C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr20656Ile
ENST00000591111.5:c.57044C>T (TTN)	ENSP00000465570.1:p.Thr19015Ile
ENST00000615779.4:c.57044C>T (TTN)	ENSP00000483597.1:p.Thr19015Ile
NM_001256850.1:c.57044C>T (TTN)	NP_001243779.1:p.Thr19015Ile
NM_001267550.2:c.61967C>T (TTN) MANE Select	NP_001254479.2:p.Thr20656Ile
NM_003319.4:c.34772C>T (TTN)	NP_003310.4:p.Thr11591Ile
NM_133378.4:c.54263C>T (TTN)	NP_596869.4:p.Thr18088Ile
NM_133432.3:c.35147C>T (TTN)	NP_597676.3:p.Thr11716Ile
NM_133437.4:c.35348C>T (TTN)	NP_597681.4:p.Thr11783Ile
NR_038271.1:n.597-7838G>A (TTN-AS1)
NR_038272.1:n.3189-1381G>A (TTN-AS1)
XM_011511729.1:c.61064C>T (TTN)	XP_011510031.1:p.Thr20355Ile
XM_011511730.1:c.34958C>T (TTN)	XP_011510032.1:p.Thr11653Ile
XM_011511731.1:c.34817C>T (TTN)	XP_011510033.1:p.Thr11606Ile
XM_017004819.1:c.60860C>T (TTN)	XP_016860308.1:p.Thr20287Ile
XM_017004820.1:c.56258C>T (TTN)	XP_016860309.1:p.Thr18753Ile
XM_017004821.1:c.56255C>T (TTN)	XP_016860310.1:p.Thr18752Ile
XM_017004822.1:c.53297C>T (TTN)	XP_016860311.1:p.Thr17766Ile
XM_017004823.1:c.34913C>T (TTN)	XP_016860312.1:p.Thr11638Ile
XM_024453094.1:c.56408C>T (TTN)	XP_024308862.1:p.Thr18803Ile
XM_024453095.1:c.56405C>T (TTN)	XP_024308863.1:p.Thr18802Ile
XM_024453096.1:c.55838C>T (TTN)	XP_024308864.1:p.Thr18613Ile
XM_024453097.1:c.53180C>T (TTN)	XP_024308865.1:p.Thr17727Ile
XM_024453098.1:c.53099C>T (TTN)	XP_024308866.1:p.Thr17700Ile
XM_024453099.1:c.34862C>T (TTN)	XP_024308867.1:p.Thr11621Ile
XM_024453100.1:c.24716C>T (TTN)	XP_024308868.1:p.Thr8239Ile