Canonical Allele Identifier: CA349496512

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457774T>G (hg19) ; chr2:g.178593047T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593047T>G , CM000664.2:g.178593047T>G	GRCh38
NC_000002.11:g.179457774T>G , CM000664.1:g.179457774T>G	GRCh37
NC_000002.10:g.179166020T>G	NCBI36
NG_011618.3:g.242756A>C , LRG_391:g.242756A>C
NG_051363.1:g.75221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51368A>C (TTN)	ENSP00000343764.6:p.Asp17123Ala
ENST00000342175.11:c.32453A>C (TTN)	ENSP00000340554.6:p.Asp10818Ala
ENST00000359218.10:c.32252A>C (TTN)	ENSP00000352154.5:p.Asp10751Ala
ENST00000342175.10:c.32453A>C (TTN)	ENSP00000340554.6:p.Asp10818Ala
ENST00000342992.10:c.51368A>C (TTN)	ENSP00000343764.6:p.Asp17123Ala
ENST00000359218.9:c.32252A>C (TTN)	ENSP00000352154.5:p.Asp10751Ala
ENST00000460472.6:c.31877A>C (TTN)	ENSP00000434586.1:p.Asp10626Ala
ENST00000589042.5:c.59072A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp19691Ala
ENST00000591111.5:c.54149A>C (TTN)	ENSP00000465570.1:p.Asp18050Ala
ENST00000615779.4:c.54149A>C (TTN)	ENSP00000483597.1:p.Asp18050Ala
NM_001256850.1:c.54149A>C (TTN)	NP_001243779.1:p.Asp18050Ala
NM_001267550.2:c.59072A>C (TTN) MANE Select	NP_001254479.2:p.Asp19691Ala
NM_003319.4:c.31877A>C (TTN)	NP_003310.4:p.Asp10626Ala
NM_133378.4:c.51368A>C (TTN)	NP_596869.4:p.Asp17123Ala
NM_133432.3:c.32252A>C (TTN)	NP_597676.3:p.Asp10751Ala
NM_133437.4:c.32453A>C (TTN)	NP_597681.4:p.Asp10818Ala
NR_038271.1:n.597-4549T>G (TTN-AS1)
NR_038272.1:n.3364+1733T>G (TTN-AS1)
XM_011511729.1:c.58169A>C (TTN)	XP_011510031.1:p.Asp19390Ala
XM_011511730.1:c.32063A>C (TTN)	XP_011510032.1:p.Asp10688Ala
XM_011511731.1:c.31922A>C (TTN)	XP_011510033.1:p.Asp10641Ala
XM_017004819.1:c.57965A>C (TTN)	XP_016860308.1:p.Asp19322Ala
XM_017004820.1:c.53363A>C (TTN)	XP_016860309.1:p.Asp17788Ala
XM_017004821.1:c.53360A>C (TTN)	XP_016860310.1:p.Asp17787Ala
XM_017004822.1:c.50402A>C (TTN)	XP_016860311.1:p.Asp16801Ala
XM_017004823.1:c.32018A>C (TTN)	XP_016860312.1:p.Asp10673Ala
XM_024453094.1:c.53513A>C (TTN)	XP_024308862.1:p.Asp17838Ala
XM_024453095.1:c.53510A>C (TTN)	XP_024308863.1:p.Asp17837Ala
XM_024453096.1:c.52943A>C (TTN)	XP_024308864.1:p.Asp17648Ala
XM_024453097.1:c.50285A>C (TTN)	XP_024308865.1:p.Asp16762Ala
XM_024453098.1:c.50204A>C (TTN)	XP_024308866.1:p.Asp16735Ala
XM_024453099.1:c.31967A>C (TTN)	XP_024308867.1:p.Asp10656Ala
XM_024453100.1:c.21821A>C (TTN)	XP_024308868.1:p.Asp7274Ala