Canonical Allele Identifier: CA349483589

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455842C>A (hg19) ; chr2:g.178591115C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591115C>A , CM000664.2:g.178591115C>A	GRCh38
NC_000002.11:g.179455842C>A , CM000664.1:g.179455842C>A	GRCh37
NC_000002.10:g.179164088C>A	NCBI36
NG_011618.3:g.244688G>T , LRG_391:g.244688G>T
NG_051363.1:g.73289C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52906G>T (TTN)	ENSP00000343764.6:p.Val17636Leu
ENST00000342175.11:c.33991G>T (TTN)	ENSP00000340554.6:p.Val11331Leu
ENST00000359218.10:c.33790G>T (TTN)	ENSP00000352154.5:p.Val11264Leu
ENST00000342175.10:c.33991G>T (TTN)	ENSP00000340554.6:p.Val11331Leu
ENST00000342992.10:c.52906G>T (TTN)	ENSP00000343764.6:p.Val17636Leu
ENST00000359218.9:c.33790G>T (TTN)	ENSP00000352154.5:p.Val11264Leu
ENST00000460472.6:c.33415G>T (TTN)	ENSP00000434586.1:p.Val11139Leu
ENST00000589042.5:c.60610G>T (TTN) MANE Select	ENSP00000467141.1:p.Val20204Leu
ENST00000591111.5:c.55687G>T (TTN)	ENSP00000465570.1:p.Val18563Leu
ENST00000615779.4:c.55687G>T (TTN)	ENSP00000483597.1:p.Val18563Leu
NM_001256850.1:c.55687G>T (TTN)	NP_001243779.1:p.Val18563Leu
NM_001267550.2:c.60610G>T (TTN) MANE Select	NP_001254479.2:p.Val20204Leu
NM_003319.4:c.33415G>T (TTN)	NP_003310.4:p.Val11139Leu
NM_133378.4:c.52906G>T (TTN)	NP_596869.4:p.Val17636Leu
NM_133432.3:c.33790G>T (TTN)	NP_597676.3:p.Val11264Leu
NM_133437.4:c.33991G>T (TTN)	NP_597681.4:p.Val11331Leu
NR_038271.1:n.597-6481C>A (TTN-AS1)
NR_038272.1:n.3189-24C>A (TTN-AS1)
XM_011511729.1:c.59707G>T (TTN)	XP_011510031.1:p.Val19903Leu
XM_011511730.1:c.33601G>T (TTN)	XP_011510032.1:p.Val11201Leu
XM_011511731.1:c.33460G>T (TTN)	XP_011510033.1:p.Val11154Leu
XM_017004819.1:c.59503G>T (TTN)	XP_016860308.1:p.Val19835Leu
XM_017004820.1:c.54901G>T (TTN)	XP_016860309.1:p.Val18301Leu
XM_017004821.1:c.54898G>T (TTN)	XP_016860310.1:p.Val18300Leu
XM_017004822.1:c.51940G>T (TTN)	XP_016860311.1:p.Val17314Leu
XM_017004823.1:c.33556G>T (TTN)	XP_016860312.1:p.Val11186Leu
XM_024453094.1:c.55051G>T (TTN)	XP_024308862.1:p.Val18351Leu
XM_024453095.1:c.55048G>T (TTN)	XP_024308863.1:p.Val18350Leu
XM_024453096.1:c.54481G>T (TTN)	XP_024308864.1:p.Val18161Leu
XM_024453097.1:c.51823G>T (TTN)	XP_024308865.1:p.Val17275Leu
XM_024453098.1:c.51742G>T (TTN)	XP_024308866.1:p.Val17248Leu
XM_024453099.1:c.33505G>T (TTN)	XP_024308867.1:p.Val11169Leu
XM_024453100.1:c.23359G>T (TTN)	XP_024308868.1:p.Val7787Leu