Canonical Allele Identifier: CA349582589

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179474419T>A (hg19) ; chr2:g.178609692T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609692T>A , CM000664.2:g.178609692T>A	GRCh38
NC_000002.11:g.179474419T>A , CM000664.1:g.179474419T>A	GRCh37
NC_000002.10:g.179182664T>A	NCBI36
NG_011618.3:g.226111A>T , LRG_391:g.226111A>T
NG_051363.1:g.91866T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.44027A>T (TTN)	ENSP00000343764.6:p.Asp14676Val
ENST00000342175.11:c.25112A>T (TTN)	ENSP00000340554.6:p.Asp8371Val
ENST00000359218.10:c.24911A>T (TTN)	ENSP00000352154.5:p.Asp8304Val
ENST00000342175.10:c.25112A>T (TTN)	ENSP00000340554.6:p.Asp8371Val
ENST00000342992.10:c.44027A>T (TTN)	ENSP00000343764.6:p.Asp14676Val
ENST00000359218.9:c.24911A>T (TTN)	ENSP00000352154.5:p.Asp8304Val
ENST00000460472.6:c.24536A>T (TTN)	ENSP00000434586.1:p.Asp8179Val
ENST00000589042.5:c.51731A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp17244Val
ENST00000591111.5:c.46808A>T (TTN)	ENSP00000465570.1:p.Asp15603Val
ENST00000615779.4:c.46808A>T (TTN)	ENSP00000483597.1:p.Asp15603Val
NM_001256850.1:c.46808A>T (TTN)	NP_001243779.1:p.Asp15603Val
NM_001267550.2:c.51731A>T (TTN) MANE Select	NP_001254479.2:p.Asp17244Val
NM_003319.4:c.24536A>T (TTN)	NP_003310.4:p.Asp8179Val
NM_133378.4:c.44027A>T (TTN)	NP_596869.4:p.Asp14676Val
NM_133432.3:c.24911A>T (TTN)	NP_597676.3:p.Asp8304Val
NM_133437.4:c.25112A>T (TTN)	NP_597681.4:p.Asp8371Val
NR_038271.1:n.782+1426T>A (TTN-AS1)
XM_011511729.1:c.50828A>T (TTN)	XP_011510031.1:p.Asp16943Val
XM_011511730.1:c.24722A>T (TTN)	XP_011510032.1:p.Asp8241Val
XM_011511731.1:c.24581A>T (TTN)	XP_011510033.1:p.Asp8194Val
XM_017004819.1:c.50624A>T (TTN)	XP_016860308.1:p.Asp16875Val
XM_017004820.1:c.46022A>T (TTN)	XP_016860309.1:p.Asp15341Val
XM_017004821.1:c.46019A>T (TTN)	XP_016860310.1:p.Asp15340Val
XM_017004822.1:c.43061A>T (TTN)	XP_016860311.1:p.Asp14354Val
XM_017004823.1:c.24677A>T (TTN)	XP_016860312.1:p.Asp8226Val
XM_024453094.1:c.46172A>T (TTN)	XP_024308862.1:p.Asp15391Val
XM_024453095.1:c.46169A>T (TTN)	XP_024308863.1:p.Asp15390Val
XM_024453096.1:c.45602A>T (TTN)	XP_024308864.1:p.Asp15201Val
XM_024453097.1:c.42944A>T (TTN)	XP_024308865.1:p.Asp14315Val
XM_024453098.1:c.42863A>T (TTN)	XP_024308866.1:p.Asp14288Val
XM_024453099.1:c.24626A>T (TTN)	XP_024308867.1:p.Asp8209Val
XM_024453100.1:c.14480A>T (TTN)	XP_024308868.1:p.Asp4827Val