Canonical Allele Identifier: CA349621853

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435281C>A (hg19) ; chr2:g.178570554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570554C>A , CM000664.2:g.178570554C>A	GRCh38
NC_000002.11:g.179435281C>A , CM000664.1:g.179435281C>A	GRCh37
NC_000002.10:g.179143527C>A	NCBI36
NG_011618.3:g.265249G>T , LRG_391:g.265249G>T
NG_051363.1:g.52728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67874G>T (TTN)	ENSP00000343764.6:p.Arg22625Ile
ENST00000342175.11:c.48959G>T (TTN)	ENSP00000340554.6:p.Arg16320Ile
ENST00000359218.10:c.48758G>T (TTN)	ENSP00000352154.5:p.Arg16253Ile
ENST00000342175.10:c.48959G>T (TTN)	ENSP00000340554.6:p.Arg16320Ile
ENST00000342992.10:c.67874G>T (TTN)	ENSP00000343764.6:p.Arg22625Ile
ENST00000359218.9:c.48758G>T (TTN)	ENSP00000352154.5:p.Arg16253Ile
ENST00000460472.6:c.48383G>T (TTN)	ENSP00000434586.1:p.Arg16128Ile
ENST00000589042.5:c.75578G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25193Ile
ENST00000591111.5:c.70655G>T (TTN)	ENSP00000465570.1:p.Arg23552Ile
ENST00000615779.4:c.70655G>T (TTN)	ENSP00000483597.1:p.Arg23552Ile
NM_001256850.1:c.70655G>T (TTN)	NP_001243779.1:p.Arg23552Ile
NM_001267550.2:c.75578G>T (TTN) MANE Select	NP_001254479.2:p.Arg25193Ile
NM_003319.4:c.48383G>T (TTN)	NP_003310.4:p.Arg16128Ile
NM_133378.4:c.67874G>T (TTN)	NP_596869.4:p.Arg22625Ile
NM_133432.3:c.48758G>T (TTN)	NP_597676.3:p.Arg16253Ile
NM_133437.4:c.48959G>T (TTN)	NP_597681.4:p.Arg16320Ile
NR_038271.1:n.447-746C>A (TTN-AS1)
NR_038272.1:n.2044-12018C>A (TTN-AS1)
XM_011511729.1:c.74675G>T (TTN)	XP_011510031.1:p.Arg24892Ile
XM_011511730.1:c.48569G>T (TTN)	XP_011510032.1:p.Arg16190Ile
XM_011511731.1:c.48428G>T (TTN)	XP_011510033.1:p.Arg16143Ile
XM_017004819.1:c.74471G>T (TTN)	XP_016860308.1:p.Arg24824Ile
XM_017004820.1:c.69869G>T (TTN)	XP_016860309.1:p.Arg23290Ile
XM_017004821.1:c.69866G>T (TTN)	XP_016860310.1:p.Arg23289Ile
XM_017004822.1:c.66908G>T (TTN)	XP_016860311.1:p.Arg22303Ile
XM_017004823.1:c.48524G>T (TTN)	XP_016860312.1:p.Arg16175Ile
XM_024453094.1:c.70019G>T (TTN)	XP_024308862.1:p.Arg23340Ile
XM_024453095.1:c.70016G>T (TTN)	XP_024308863.1:p.Arg23339Ile
XM_024453096.1:c.69449G>T (TTN)	XP_024308864.1:p.Arg23150Ile
XM_024453097.1:c.66791G>T (TTN)	XP_024308865.1:p.Arg22264Ile
XM_024453098.1:c.66710G>T (TTN)	XP_024308866.1:p.Arg22237Ile
XM_024453099.1:c.48473G>T (TTN)	XP_024308867.1:p.Arg16158Ile
XM_024453100.1:c.38327G>T (TTN)	XP_024308868.1:p.Arg12776Ile