Canonical Allele Identifier: CA349512589

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178552659-C-A
• MyVariant Identifiers: chr2:g.179417386C>A (hg19) ; chr2:g.178552659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552659C>A , CM000664.2:g.178552659C>A	GRCh38
NC_000002.11:g.179417386C>A , CM000664.1:g.179417386C>A	GRCh37
NC_000002.10:g.179125632C>A	NCBI36
NG_011618.3:g.283144G>T , LRG_391:g.283144G>T
NG_051363.1:g.34833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82537G>T (TTN)	ENSP00000343764.6:p.Gly27513Cys
ENST00000342175.11:c.63622G>T (TTN)	ENSP00000340554.6:p.Gly21208Cys
ENST00000359218.10:c.63421G>T (TTN)	ENSP00000352154.5:p.Gly21141Cys
ENST00000342175.10:c.63622G>T (TTN)	ENSP00000340554.6:p.Gly21208Cys
ENST00000342992.10:c.82537G>T (TTN)	ENSP00000343764.6:p.Gly27513Cys
ENST00000359218.9:c.63421G>T (TTN)	ENSP00000352154.5:p.Gly21141Cys
ENST00000460472.6:c.63046G>T (TTN)	ENSP00000434586.1:p.Gly21016Cys
ENST00000589042.5:c.90241G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30081Cys
ENST00000591111.5:c.85318G>T (TTN)	ENSP00000465570.1:p.Gly28440Cys
ENST00000615779.4:c.85318G>T (TTN)	ENSP00000483597.1:p.Gly28440Cys
NM_001256850.1:c.85318G>T (TTN)	NP_001243779.1:p.Gly28440Cys
NM_001267550.2:c.90241G>T (TTN) MANE Select	NP_001254479.2:p.Gly30081Cys
NM_003319.4:c.63046G>T (TTN)	NP_003310.4:p.Gly21016Cys
NM_133378.4:c.82537G>T (TTN)	NP_596869.4:p.Gly27513Cys
NM_133432.3:c.63421G>T (TTN)	NP_597676.3:p.Gly21141Cys
NM_133437.4:c.63622G>T (TTN)	NP_597681.4:p.Gly21208Cys
NR_038271.1:n.447-18641C>A (TTN-AS1)
NR_038272.1:n.2043+10298C>A (TTN-AS1)
XM_011511729.1:c.89338G>T (TTN)	XP_011510031.1:p.Gly29780Cys
XM_011511730.1:c.63232G>T (TTN)	XP_011510032.1:p.Gly21078Cys
XM_011511731.1:c.63091G>T (TTN)	XP_011510033.1:p.Gly21031Cys
XM_017004819.1:c.89134G>T (TTN)	XP_016860308.1:p.Gly29712Cys
XM_017004820.1:c.84532G>T (TTN)	XP_016860309.1:p.Gly28178Cys
XM_017004821.1:c.84529G>T (TTN)	XP_016860310.1:p.Gly28177Cys
XM_017004822.1:c.81571G>T (TTN)	XP_016860311.1:p.Gly27191Cys
XM_017004823.1:c.63187G>T (TTN)	XP_016860312.1:p.Gly21063Cys
XM_024453094.1:c.84682G>T (TTN)	XP_024308862.1:p.Gly28228Cys
XM_024453095.1:c.84679G>T (TTN)	XP_024308863.1:p.Gly28227Cys
XM_024453096.1:c.84112G>T (TTN)	XP_024308864.1:p.Gly28038Cys
XM_024453097.1:c.81454G>T (TTN)	XP_024308865.1:p.Gly27152Cys
XM_024453098.1:c.81373G>T (TTN)	XP_024308866.1:p.Gly27125Cys
XM_024453099.1:c.63136G>T (TTN)	XP_024308867.1:p.Gly21046Cys
XM_024453100.1:c.52990G>T (TTN)	XP_024308868.1:p.Gly17664Cys