Canonical Allele Identifier: CA349496603

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457783T>G (hg19) ; chr2:g.178593056T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593056T>G , CM000664.2:g.178593056T>G	GRCh38
NC_000002.11:g.179457783T>G , CM000664.1:g.179457783T>G	GRCh37
NC_000002.10:g.179166029T>G	NCBI36
NG_011618.3:g.242747A>C , LRG_391:g.242747A>C
NG_051363.1:g.75230T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51359A>C (TTN)	ENSP00000343764.6:p.Glu17120Ala
ENST00000342175.11:c.32444A>C (TTN)	ENSP00000340554.6:p.Glu10815Ala
ENST00000359218.10:c.32243A>C (TTN)	ENSP00000352154.5:p.Glu10748Ala
ENST00000342175.10:c.32444A>C (TTN)	ENSP00000340554.6:p.Glu10815Ala
ENST00000342992.10:c.51359A>C (TTN)	ENSP00000343764.6:p.Glu17120Ala
ENST00000359218.9:c.32243A>C (TTN)	ENSP00000352154.5:p.Glu10748Ala
ENST00000460472.6:c.31868A>C (TTN)	ENSP00000434586.1:p.Glu10623Ala
ENST00000589042.5:c.59063A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu19688Ala
ENST00000591111.5:c.54140A>C (TTN)	ENSP00000465570.1:p.Glu18047Ala
ENST00000615779.4:c.54140A>C (TTN)	ENSP00000483597.1:p.Glu18047Ala
NM_001256850.1:c.54140A>C (TTN)	NP_001243779.1:p.Glu18047Ala
NM_001267550.2:c.59063A>C (TTN) MANE Select	NP_001254479.2:p.Glu19688Ala
NM_003319.4:c.31868A>C (TTN)	NP_003310.4:p.Glu10623Ala
NM_133378.4:c.51359A>C (TTN)	NP_596869.4:p.Glu17120Ala
NM_133432.3:c.32243A>C (TTN)	NP_597676.3:p.Glu10748Ala
NM_133437.4:c.32444A>C (TTN)	NP_597681.4:p.Glu10815Ala
NR_038271.1:n.597-4540T>G (TTN-AS1)
NR_038272.1:n.3364+1742T>G (TTN-AS1)
XM_011511729.1:c.58160A>C (TTN)	XP_011510031.1:p.Glu19387Ala
XM_011511730.1:c.32054A>C (TTN)	XP_011510032.1:p.Glu10685Ala
XM_011511731.1:c.31913A>C (TTN)	XP_011510033.1:p.Glu10638Ala
XM_017004819.1:c.57956A>C (TTN)	XP_016860308.1:p.Glu19319Ala
XM_017004820.1:c.53354A>C (TTN)	XP_016860309.1:p.Glu17785Ala
XM_017004821.1:c.53351A>C (TTN)	XP_016860310.1:p.Glu17784Ala
XM_017004822.1:c.50393A>C (TTN)	XP_016860311.1:p.Glu16798Ala
XM_017004823.1:c.32009A>C (TTN)	XP_016860312.1:p.Glu10670Ala
XM_024453094.1:c.53504A>C (TTN)	XP_024308862.1:p.Glu17835Ala
XM_024453095.1:c.53501A>C (TTN)	XP_024308863.1:p.Glu17834Ala
XM_024453096.1:c.52934A>C (TTN)	XP_024308864.1:p.Glu17645Ala
XM_024453097.1:c.50276A>C (TTN)	XP_024308865.1:p.Glu16759Ala
XM_024453098.1:c.50195A>C (TTN)	XP_024308866.1:p.Glu16732Ala
XM_024453099.1:c.31958A>C (TTN)	XP_024308867.1:p.Glu10653Ala
XM_024453100.1:c.21812A>C (TTN)	XP_024308868.1:p.Glu7271Ala