Canonical Allele Identifier: CA10576446

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 229574
• ClinVar RCV Id: RCV000220398 ; RCV000694679
• dbSNP Id: rs876658102
• gnomAD v4: 2-178528527-C-T
• MyVariant Identifiers: chr2:g.179393254C>T (hg19) ; chr2:g.178528527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178528527C>T , CM000664.2:g.178528527C>T	GRCh38
NC_000002.11:g.179393254C>T , CM000664.1:g.179393254C>T	GRCh37
NC_000002.10:g.179101500C>T	NCBI36
NG_011618.3:g.307276G>A , LRG_391:g.307276G>A
NG_051363.1:g.10701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99519+1G>A (TTN)	ENSP00000343764.6:n.99519+1G>A
ENST00000342175.11:c.80604+1G>A (TTN)	ENSP00000340554.6:n.80604+1G>A
ENST00000359218.10:c.80403+1G>A (TTN)	ENSP00000352154.5:n.80403+1G>A
ENST00000342175.10:c.80604+1G>A (TTN)	ENSP00000340554.6:n.80604+1G>A
ENST00000342992.10:c.99519+1G>A (TTN)	ENSP00000343764.6:n.99519+1G>A
ENST00000359218.9:c.80403+1G>A (TTN)	ENSP00000352154.5:n.80403+1G>A
ENST00000460472.6:c.80028+1G>A (TTN)	ENSP00000434586.1:n.80028+1G>A
ENST00000589042.5:c.107223+1G>A (TTN) MANE Select	ENSP00000467141.1:n.107223+1G>A
ENST00000591111.5:c.102300+1G>A (TTN)	ENSP00000465570.1:n.102300+1G>A
ENST00000615779.4:c.102300+1G>A (TTN)	ENSP00000483597.1:n.102300+1G>A
NM_001256850.1:c.102300+1G>A (TTN)	NP_001243779.1:n.102300+1G>A
NM_001267550.2:c.107223+1G>A (TTN) MANE Select	NP_001254479.2:n.107223+1G>A
NM_003319.4:c.80028+1G>A (TTN)	NP_003310.4:n.80028+1G>A
NM_133378.4:c.99519+1G>A (TTN)	NP_596869.4:n.99519+1G>A
NM_133432.3:c.80403+1G>A (TTN)	NP_597676.3:n.80403+1G>A
NM_133437.4:c.80604+1G>A (TTN)	NP_597681.4:n.80604+1G>A
NR_038271.1:n.446+4891C>T (TTN-AS1)
NR_038272.1:n.219+4891C>T (TTN-AS1)
XM_011511729.1:c.106320+1G>A (TTN)	XP_011510031.1:n.106320+1G>A
XM_011511730.1:c.80214+1G>A (TTN)	XP_011510032.1:n.80214+1G>A
XM_011511731.1:c.80073+1G>A (TTN)	XP_011510033.1:n.80073+1G>A
XM_017004819.1:c.106116+1G>A (TTN)	XP_016860308.1:n.106116+1G>A
XM_017004820.1:c.101514+1G>A (TTN)	XP_016860309.1:n.101514+1G>A
XM_017004821.1:c.101511+1G>A (TTN)	XP_016860310.1:n.101511+1G>A
XM_017004822.1:c.98553+1G>A (TTN)	XP_016860311.1:n.98553+1G>A
XM_017004823.1:c.80169+1G>A (TTN)	XP_016860312.1:n.80169+1G>A
XM_024453094.1:c.101664+1G>A (TTN)	XP_024308862.1:n.101664+1G>A
XM_024453095.1:c.101661+1G>A (TTN)	XP_024308863.1:n.101661+1G>A
XM_024453096.1:c.101094+1G>A (TTN)	XP_024308864.1:n.101094+1G>A
XM_024453097.1:c.98436+1G>A (TTN)	XP_024308865.1:n.98436+1G>A
XM_024453098.1:c.98355+1G>A (TTN)	XP_024308866.1:n.98355+1G>A
XM_024453099.1:c.80118+1G>A (TTN)	XP_024308867.1:n.80118+1G>A
XM_024453100.1:c.69972+1G>A (TTN)	XP_024308868.1:n.69972+1G>A