Canonical Allele Identifier: CA349483581

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455841A>G (hg19) ; chr2:g.178591114A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591114A>G , CM000664.2:g.178591114A>G	GRCh38
NC_000002.11:g.179455841A>G , CM000664.1:g.179455841A>G	GRCh37
NC_000002.10:g.179164087A>G	NCBI36
NG_011618.3:g.244689T>C , LRG_391:g.244689T>C
NG_051363.1:g.73288A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52907T>C (TTN)	ENSP00000343764.6:p.Val17636Ala
ENST00000342175.11:c.33992T>C (TTN)	ENSP00000340554.6:p.Val11331Ala
ENST00000359218.10:c.33791T>C (TTN)	ENSP00000352154.5:p.Val11264Ala
ENST00000342175.10:c.33992T>C (TTN)	ENSP00000340554.6:p.Val11331Ala
ENST00000342992.10:c.52907T>C (TTN)	ENSP00000343764.6:p.Val17636Ala
ENST00000359218.9:c.33791T>C (TTN)	ENSP00000352154.5:p.Val11264Ala
ENST00000460472.6:c.33416T>C (TTN)	ENSP00000434586.1:p.Val11139Ala
ENST00000589042.5:c.60611T>C (TTN) MANE Select	ENSP00000467141.1:p.Val20204Ala
ENST00000591111.5:c.55688T>C (TTN)	ENSP00000465570.1:p.Val18563Ala
ENST00000615779.4:c.55688T>C (TTN)	ENSP00000483597.1:p.Val18563Ala
NM_001256850.1:c.55688T>C (TTN)	NP_001243779.1:p.Val18563Ala
NM_001267550.2:c.60611T>C (TTN) MANE Select	NP_001254479.2:p.Val20204Ala
NM_003319.4:c.33416T>C (TTN)	NP_003310.4:p.Val11139Ala
NM_133378.4:c.52907T>C (TTN)	NP_596869.4:p.Val17636Ala
NM_133432.3:c.33791T>C (TTN)	NP_597676.3:p.Val11264Ala
NM_133437.4:c.33992T>C (TTN)	NP_597681.4:p.Val11331Ala
NR_038271.1:n.597-6482A>G (TTN-AS1)
NR_038272.1:n.3189-25A>G (TTN-AS1)
XM_011511729.1:c.59708T>C (TTN)	XP_011510031.1:p.Val19903Ala
XM_011511730.1:c.33602T>C (TTN)	XP_011510032.1:p.Val11201Ala
XM_011511731.1:c.33461T>C (TTN)	XP_011510033.1:p.Val11154Ala
XM_017004819.1:c.59504T>C (TTN)	XP_016860308.1:p.Val19835Ala
XM_017004820.1:c.54902T>C (TTN)	XP_016860309.1:p.Val18301Ala
XM_017004821.1:c.54899T>C (TTN)	XP_016860310.1:p.Val18300Ala
XM_017004822.1:c.51941T>C (TTN)	XP_016860311.1:p.Val17314Ala
XM_017004823.1:c.33557T>C (TTN)	XP_016860312.1:p.Val11186Ala
XM_024453094.1:c.55052T>C (TTN)	XP_024308862.1:p.Val18351Ala
XM_024453095.1:c.55049T>C (TTN)	XP_024308863.1:p.Val18350Ala
XM_024453096.1:c.54482T>C (TTN)	XP_024308864.1:p.Val18161Ala
XM_024453097.1:c.51824T>C (TTN)	XP_024308865.1:p.Val17275Ala
XM_024453098.1:c.51743T>C (TTN)	XP_024308866.1:p.Val17248Ala
XM_024453099.1:c.33506T>C (TTN)	XP_024308867.1:p.Val11169Ala
XM_024453100.1:c.23360T>C (TTN)	XP_024308868.1:p.Val7787Ala