Canonical Allele Identifier: CA349612865

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178569105-G-A
• COSMIC: COSM1664770 ; COSM1664771 ; COSM1664772 ; COSM1664773
• MyVariant Identifiers: chr2:g.179433832G>A (hg19) ; chr2:g.178569105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569105G>A , CM000664.2:g.178569105G>A	GRCh38
NC_000002.11:g.179433832G>A , CM000664.1:g.179433832G>A	GRCh37
NC_000002.10:g.179142078G>A	NCBI36
NG_011618.3:g.266698C>T , LRG_391:g.266698C>T
NG_051363.1:g.51279G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69323C>T (TTN)	ENSP00000343764.6:p.Thr23108Ile
ENST00000342175.11:c.50408C>T (TTN)	ENSP00000340554.6:p.Thr16803Ile
ENST00000359218.10:c.50207C>T (TTN)	ENSP00000352154.5:p.Thr16736Ile
ENST00000342175.10:c.50408C>T (TTN)	ENSP00000340554.6:p.Thr16803Ile
ENST00000342992.10:c.69323C>T (TTN)	ENSP00000343764.6:p.Thr23108Ile
ENST00000359218.9:c.50207C>T (TTN)	ENSP00000352154.5:p.Thr16736Ile
ENST00000460472.6:c.49832C>T (TTN)	ENSP00000434586.1:p.Thr16611Ile
ENST00000589042.5:c.77027C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr25676Ile
ENST00000591111.5:c.72104C>T (TTN)	ENSP00000465570.1:p.Thr24035Ile
ENST00000615779.4:c.72104C>T (TTN)	ENSP00000483597.1:p.Thr24035Ile
NM_001256850.1:c.72104C>T (TTN)	NP_001243779.1:p.Thr24035Ile
NM_001267550.2:c.77027C>T (TTN) MANE Select	NP_001254479.2:p.Thr25676Ile
NM_003319.4:c.49832C>T (TTN)	NP_003310.4:p.Thr16611Ile
NM_133378.4:c.69323C>T (TTN)	NP_596869.4:p.Thr23108Ile
NM_133432.3:c.50207C>T (TTN)	NP_597676.3:p.Thr16736Ile
NM_133437.4:c.50408C>T (TTN)	NP_597681.4:p.Thr16803Ile
NR_038271.1:n.447-2195G>A (TTN-AS1)
NR_038272.1:n.2044-13467G>A (TTN-AS1)
XM_011511729.1:c.76124C>T (TTN)	XP_011510031.1:p.Thr25375Ile
XM_011511730.1:c.50018C>T (TTN)	XP_011510032.1:p.Thr16673Ile
XM_011511731.1:c.49877C>T (TTN)	XP_011510033.1:p.Thr16626Ile
XM_017004819.1:c.75920C>T (TTN)	XP_016860308.1:p.Thr25307Ile
XM_017004820.1:c.71318C>T (TTN)	XP_016860309.1:p.Thr23773Ile
XM_017004821.1:c.71315C>T (TTN)	XP_016860310.1:p.Thr23772Ile
XM_017004822.1:c.68357C>T (TTN)	XP_016860311.1:p.Thr22786Ile
XM_017004823.1:c.49973C>T (TTN)	XP_016860312.1:p.Thr16658Ile
XM_024453094.1:c.71468C>T (TTN)	XP_024308862.1:p.Thr23823Ile
XM_024453095.1:c.71465C>T (TTN)	XP_024308863.1:p.Thr23822Ile
XM_024453096.1:c.70898C>T (TTN)	XP_024308864.1:p.Thr23633Ile
XM_024453097.1:c.68240C>T (TTN)	XP_024308865.1:p.Thr22747Ile
XM_024453098.1:c.68159C>T (TTN)	XP_024308866.1:p.Thr22720Ile
XM_024453099.1:c.49922C>T (TTN)	XP_024308867.1:p.Thr16641Ile
XM_024453100.1:c.39776C>T (TTN)	XP_024308868.1:p.Thr13259Ile