Canonical Allele Identifier: CA238069

Gene: TTN

Linked Data

• ClinVar Variation Id: 192000
• ClinVar RCV Id: RCV000172370 ; RCV001130655 ; RCV001130656 ; RCV001130657 ; RCV001130658 ; RCV001133624
• dbSNP Id: rs373380202
• ExAC: 2:179574365 C / T
• gnomAD v2: 2-179574365-C-T
• gnomAD v3: 2-178709638-C-T
• gnomAD v4: 2-178709638-C-T
• COSMIC: COSM1012719 ; COSM1591318
• MyVariant Identifiers: chr2:g.179574365C>T (hg19) ; chr2:g.178709638C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178709638C>T , CM000664.2:g.178709638C>T	GRCh38
NC_000002.11:g.179574365C>T , CM000664.1:g.179574365C>T	GRCh37
NC_000002.10:g.179282610C>T	NCBI36
NG_011618.3:g.126165G>A , LRG_391:g.126165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.24949G>A	ENSP00000343764.6:p.Ala8317Thr
ENST00000342175.11:c.13858+28444G>A	ENSP00000340554.6:n.13858+28444G>A
ENST00000359218.10:c.13657+28444G>A	ENSP00000352154.5:n.13657+28444G>A
ENST00000342175.10:c.13858+28444G>A	ENSP00000340554.6:n.13858+28444G>A
ENST00000342992.10:c.24949G>A	ENSP00000343764.6:p.Ala8317Thr
ENST00000359218.9:c.13657+28444G>A	ENSP00000352154.5:n.13657+28444G>A
ENST00000460472.6:c.13282+28444G>A	ENSP00000434586.1:n.13282+28444G>A
ENST00000589042.5:c.28681G>A MANE Select	ENSP00000467141.1:p.Ala9561Thr
ENST00000591111.5:c.27730G>A	ENSP00000465570.1:p.Ala9244Thr
ENST00000615779.4:c.27730G>A	ENSP00000483597.1:p.Ala9244Thr
NM_001256850.1:c.27730G>A	NP_001243779.1:p.Ala9244Thr
NM_001267550.2:c.28681G>A MANE Select	NP_001254479.2:p.Ala9561Thr
NM_003319.4:c.13282+28444G>A	NP_003310.4:n.13282+28444G>A
NM_133378.4:c.24949G>A	NP_596869.4:p.Ala8317Thr
NM_133432.3:c.13657+28444G>A	NP_597676.3:n.13657+28444G>A
NM_133437.4:c.13858+28444G>A	NP_597681.4:n.13858+28444G>A
XM_011511729.1:c.27778G>A	XP_011510031.1:p.Ala9260Thr
XM_011511730.1:c.13468+28444G>A	XP_011510032.1:n.13468+28444G>A
XM_011511731.1:c.13327+28444G>A	XP_011510033.1:n.13327+28444G>A
XM_017004819.1:c.27733G>A	XP_016860308.1:p.Ala9245Thr
XM_017004820.1:c.24952G>A	XP_016860309.1:p.Ala8318Thr
XM_017004821.1:c.24949G>A	XP_016860310.1:p.Ala8317Thr
XM_017004822.1:c.27733G>A	XP_016860311.1:p.Ala9245Thr
XM_017004823.1:c.13423+28444G>A	XP_016860312.1:n.13423+28444G>A
XM_024453094.1:c.27733G>A	XP_024308862.1:p.Ala9245Thr
XM_024453095.1:c.27733G>A	XP_024308863.1:p.Ala9245Thr
XM_024453096.1:c.27733G>A	XP_024308864.1:p.Ala9245Thr
XM_024453097.1:c.27733G>A	XP_024308865.1:p.Ala9245Thr
XM_024453098.1:c.27733G>A	XP_024308866.1:p.Ala9245Thr
XM_024453099.1:c.13423+28444G>A	XP_024308867.1:n.13423+28444G>A