Canonical Allele Identifier: CA349407021

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395236T>A (hg19) ; chr2:g.178530509T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530509T>A , CM000664.2:g.178530509T>A	GRCh38
NC_000002.11:g.179395236T>A , CM000664.1:g.179395236T>A	GRCh37
NC_000002.10:g.179103482T>A	NCBI36
NG_011618.3:g.305294A>T , LRG_391:g.305294A>T
NG_051363.1:g.12683T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98402A>T (TTN)	ENSP00000343764.6:p.Lys32801Ile
ENST00000342175.11:c.79487A>T (TTN)	ENSP00000340554.6:p.Lys26496Ile
ENST00000359218.10:c.79286A>T (TTN)	ENSP00000352154.5:p.Lys26429Ile
ENST00000342175.10:c.79487A>T (TTN)	ENSP00000340554.6:p.Lys26496Ile
ENST00000342992.10:c.98402A>T (TTN)	ENSP00000343764.6:p.Lys32801Ile
ENST00000359218.9:c.79286A>T (TTN)	ENSP00000352154.5:p.Lys26429Ile
ENST00000460472.6:c.78911A>T (TTN)	ENSP00000434586.1:p.Lys26304Ile
ENST00000589042.5:c.106106A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys35369Ile
ENST00000591111.5:c.101183A>T (TTN)	ENSP00000465570.1:p.Lys33728Ile
ENST00000615779.4:c.101183A>T (TTN)	ENSP00000483597.1:p.Lys33728Ile
NM_001256850.1:c.101183A>T (TTN)	NP_001243779.1:p.Lys33728Ile
NM_001267550.2:c.106106A>T (TTN) MANE Select	NP_001254479.2:p.Lys35369Ile
NM_003319.4:c.78911A>T (TTN)	NP_003310.4:p.Lys26304Ile
NM_133378.4:c.98402A>T (TTN)	NP_596869.4:p.Lys32801Ile
NM_133432.3:c.79286A>T (TTN)	NP_597676.3:p.Lys26429Ile
NM_133437.4:c.79487A>T (TTN)	NP_597681.4:p.Lys26496Ile
NR_038271.1:n.446+6873T>A (TTN-AS1)
NR_038272.1:n.220-5223T>A (TTN-AS1)
XM_011511729.1:c.105203A>T (TTN)	XP_011510031.1:p.Lys35068Ile
XM_011511730.1:c.79097A>T (TTN)	XP_011510032.1:p.Lys26366Ile
XM_011511731.1:c.78956A>T (TTN)	XP_011510033.1:p.Lys26319Ile
XM_017004819.1:c.104999A>T (TTN)	XP_016860308.1:p.Lys35000Ile
XM_017004820.1:c.100397A>T (TTN)	XP_016860309.1:p.Lys33466Ile
XM_017004821.1:c.100394A>T (TTN)	XP_016860310.1:p.Lys33465Ile
XM_017004822.1:c.97436A>T (TTN)	XP_016860311.1:p.Lys32479Ile
XM_017004823.1:c.79052A>T (TTN)	XP_016860312.1:p.Lys26351Ile
XM_024453094.1:c.100547A>T (TTN)	XP_024308862.1:p.Lys33516Ile
XM_024453095.1:c.100544A>T (TTN)	XP_024308863.1:p.Lys33515Ile
XM_024453096.1:c.99977A>T (TTN)	XP_024308864.1:p.Lys33326Ile
XM_024453097.1:c.97319A>T (TTN)	XP_024308865.1:p.Lys32440Ile
XM_024453098.1:c.97238A>T (TTN)	XP_024308866.1:p.Lys32413Ile
XM_024453099.1:c.79001A>T (TTN)	XP_024308867.1:p.Lys26334Ile
XM_024453100.1:c.68855A>T (TTN)	XP_024308868.1:p.Lys22952Ile