Canonical Allele Identifier: CA181901

Gene: TTN

Linked Data

• ClinVar Variation Id: 178246
• ClinVar RCV Id: RCV000154985 ; RCV000172693 ; RCV001081624 ; RCV003486695 ; RCV004534980
• dbSNP Id: rs142794598
• ExAC: 2:179590301 A / G
• gnomAD v2: 2-179590301-A-G
• gnomAD v3: 2-178725574-A-G
• gnomAD v4: 2-178725574-A-G
• COSMIC: COSM1148755 ; COSM1647182
• MyVariant Identifiers: chr2:g.179590301A>G (hg19) ; chr2:g.178725574A>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178725574A>G , CM000664.2:g.178725574A>G	GRCh38
NC_000002.11:g.179590301A>G , CM000664.1:g.179590301A>G	GRCh37
NC_000002.10:g.179298546A>G	NCBI36
NG_011618.3:g.110229T>C , LRG_391:g.110229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.16898T>C	ENSP00000343764.6:p.Ile5633Thr
ENST00000342175.11:c.13858+12508T>C	ENSP00000340554.6:n.13858+12508T>C
ENST00000359218.10:c.13657+12508T>C	ENSP00000352154.5:n.13657+12508T>C
ENST00000342175.10:c.13858+12508T>C	ENSP00000340554.6:n.13858+12508T>C
ENST00000342992.10:c.16898T>C	ENSP00000343764.6:p.Ile5633Thr
ENST00000359218.9:c.13657+12508T>C	ENSP00000352154.5:n.13657+12508T>C
ENST00000460472.6:c.13282+12508T>C	ENSP00000434586.1:n.13282+12508T>C
ENST00000589042.5:c.20630T>C MANE Select	ENSP00000467141.1:p.Ile6877Thr
ENST00000591111.5:c.19679T>C	ENSP00000465570.1:p.Ile6560Thr
ENST00000615779.4:c.19679T>C	ENSP00000483597.1:p.Ile6560Thr
NM_001256850.1:c.19679T>C	NP_001243779.1:p.Ile6560Thr
NM_001267550.2:c.20630T>C MANE Select	NP_001254479.2:p.Ile6877Thr
NM_003319.4:c.13282+12508T>C	NP_003310.4:n.13282+12508T>C
NM_133378.4:c.16898T>C	NP_596869.4:p.Ile5633Thr
NM_133432.3:c.13657+12508T>C	NP_597676.3:n.13657+12508T>C
NM_133437.4:c.13858+12508T>C	NP_597681.4:n.13858+12508T>C
XM_011511729.1:c.19727T>C	XP_011510031.1:p.Ile6576Thr
XM_011511730.1:c.13468+12508T>C	XP_011510032.1:n.13468+12508T>C
XM_011511731.1:c.13327+12508T>C	XP_011510033.1:n.13327+12508T>C
XM_017004819.1:c.19682T>C	XP_016860308.1:p.Ile6561Thr
XM_017004820.1:c.16901T>C	XP_016860309.1:p.Ile5634Thr
XM_017004821.1:c.16898T>C	XP_016860310.1:p.Ile5633Thr
XM_017004822.1:c.19682T>C	XP_016860311.1:p.Ile6561Thr
XM_017004823.1:c.13423+12508T>C	XP_016860312.1:n.13423+12508T>C
XM_024453094.1:c.19682T>C	XP_024308862.1:p.Ile6561Thr
XM_024453095.1:c.19682T>C	XP_024308863.1:p.Ile6561Thr
XM_024453096.1:c.19682T>C	XP_024308864.1:p.Ile6561Thr
XM_024453097.1:c.19682T>C	XP_024308865.1:p.Ile6561Thr
XM_024453098.1:c.19682T>C	XP_024308866.1:p.Ile6561Thr
XM_024453099.1:c.13423+12508T>C	XP_024308867.1:n.13423+12508T>C