Canonical Allele Identifier: CA349621854

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67874G>A (TTN)	ENSP00000343764.6:p.Arg22625Lys
ENST00000342175.11:c.48959G>A (TTN)	ENSP00000340554.6:p.Arg16320Lys
ENST00000359218.10:c.48758G>A (TTN)	ENSP00000352154.5:p.Arg16253Lys
ENST00000342175.10:c.48959G>A (TTN)	ENSP00000340554.6:p.Arg16320Lys
ENST00000342992.10:c.67874G>A (TTN)	ENSP00000343764.6:p.Arg22625Lys
ENST00000359218.9:c.48758G>A (TTN)	ENSP00000352154.5:p.Arg16253Lys
ENST00000460472.6:c.48383G>A (TTN)	ENSP00000434586.1:p.Arg16128Lys
ENST00000589042.5:c.75578G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg25193Lys
ENST00000591111.5:c.70655G>A (TTN)	ENSP00000465570.1:p.Arg23552Lys
ENST00000615779.4:c.70655G>A (TTN)	ENSP00000483597.1:p.Arg23552Lys
NM_001256850.1:c.70655G>A (TTN)	NP_001243779.1:p.Arg23552Lys
NM_001267550.2:c.75578G>A (TTN) MANE Select	NP_001254479.2:p.Arg25193Lys
NM_003319.4:c.48383G>A (TTN)	NP_003310.4:p.Arg16128Lys
NM_133378.4:c.67874G>A (TTN)	NP_596869.4:p.Arg22625Lys
NM_133432.3:c.48758G>A (TTN)	NP_597676.3:p.Arg16253Lys
NM_133437.4:c.48959G>A (TTN)	NP_597681.4:p.Arg16320Lys
NR_038271.1:n.447-746C>T (TTN-AS1)
NR_038272.1:n.2044-12018C>T (TTN-AS1)
XM_011511729.1:c.74675G>A (TTN)	XP_011510031.1:p.Arg24892Lys
XM_011511730.1:c.48569G>A (TTN)	XP_011510032.1:p.Arg16190Lys
XM_011511731.1:c.48428G>A (TTN)	XP_011510033.1:p.Arg16143Lys
XM_017004819.1:c.74471G>A (TTN)	XP_016860308.1:p.Arg24824Lys
XM_017004820.1:c.69869G>A (TTN)	XP_016860309.1:p.Arg23290Lys
XM_017004821.1:c.69866G>A (TTN)	XP_016860310.1:p.Arg23289Lys
XM_017004822.1:c.66908G>A (TTN)	XP_016860311.1:p.Arg22303Lys
XM_017004823.1:c.48524G>A (TTN)	XP_016860312.1:p.Arg16175Lys
XM_024453094.1:c.70019G>A (TTN)	XP_024308862.1:p.Arg23340Lys
XM_024453095.1:c.70016G>A (TTN)	XP_024308863.1:p.Arg23339Lys
XM_024453096.1:c.69449G>A (TTN)	XP_024308864.1:p.Arg23150Lys
XM_024453097.1:c.66791G>A (TTN)	XP_024308865.1:p.Arg22264Lys
XM_024453098.1:c.66710G>A (TTN)	XP_024308866.1:p.Arg22237Lys
XM_024453099.1:c.48473G>A (TTN)	XP_024308867.1:p.Arg16158Lys
XM_024453100.1:c.38327G>A (TTN)	XP_024308868.1:p.Arg12776Lys