Canonical Allele Identifier: CA349541172

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466270T>G (hg19) ; chr2:g.178601543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601543T>G , CM000664.2:g.178601543T>G	GRCh38
NC_000002.11:g.179466270T>G , CM000664.1:g.179466270T>G	GRCh37
NC_000002.10:g.179174515T>G	NCBI36
NG_011618.3:g.234260A>C , LRG_391:g.234260A>C
NG_051363.1:g.83717T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47750A>C (TTN)	ENSP00000343764.6:p.Asp15917Ala
ENST00000342175.11:c.28835A>C (TTN)	ENSP00000340554.6:p.Asp9612Ala
ENST00000359218.10:c.28634A>C (TTN)	ENSP00000352154.5:p.Asp9545Ala
ENST00000342175.10:c.28835A>C (TTN)	ENSP00000340554.6:p.Asp9612Ala
ENST00000342992.10:c.47750A>C (TTN)	ENSP00000343764.6:p.Asp15917Ala
ENST00000359218.9:c.28634A>C (TTN)	ENSP00000352154.5:p.Asp9545Ala
ENST00000460472.6:c.28259A>C (TTN)	ENSP00000434586.1:p.Asp9420Ala
ENST00000589042.5:c.55454A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp18485Ala
ENST00000591111.5:c.50531A>C (TTN)	ENSP00000465570.1:p.Asp16844Ala
ENST00000615779.4:c.50531A>C (TTN)	ENSP00000483597.1:p.Asp16844Ala
NM_001256850.1:c.50531A>C (TTN)	NP_001243779.1:p.Asp16844Ala
NM_001267550.2:c.55454A>C (TTN) MANE Select	NP_001254479.2:p.Asp18485Ala
NM_003319.4:c.28259A>C (TTN)	NP_003310.4:p.Asp9420Ala
NM_133378.4:c.47750A>C (TTN)	NP_596869.4:p.Asp15917Ala
NM_133432.3:c.28634A>C (TTN)	NP_597676.3:p.Asp9545Ala
NM_133437.4:c.28835A>C (TTN)	NP_597681.4:p.Asp9612Ala
NR_038271.1:n.682+3862T>G (TTN-AS1)
NR_038272.1:n.3917+876T>G (TTN-AS1)
XM_011511729.1:c.54551A>C (TTN)	XP_011510031.1:p.Asp18184Ala
XM_011511730.1:c.28445A>C (TTN)	XP_011510032.1:p.Asp9482Ala
XM_011511731.1:c.28304A>C (TTN)	XP_011510033.1:p.Asp9435Ala
XM_017004819.1:c.54347A>C (TTN)	XP_016860308.1:p.Asp18116Ala
XM_017004820.1:c.49745A>C (TTN)	XP_016860309.1:p.Asp16582Ala
XM_017004821.1:c.49742A>C (TTN)	XP_016860310.1:p.Asp16581Ala
XM_017004822.1:c.46784A>C (TTN)	XP_016860311.1:p.Asp15595Ala
XM_017004823.1:c.28400A>C (TTN)	XP_016860312.1:p.Asp9467Ala
XM_024453094.1:c.49895A>C (TTN)	XP_024308862.1:p.Asp16632Ala
XM_024453095.1:c.49892A>C (TTN)	XP_024308863.1:p.Asp16631Ala
XM_024453096.1:c.49325A>C (TTN)	XP_024308864.1:p.Asp16442Ala
XM_024453097.1:c.46667A>C (TTN)	XP_024308865.1:p.Asp15556Ala
XM_024453098.1:c.46586A>C (TTN)	XP_024308866.1:p.Asp15529Ala
XM_024453099.1:c.28349A>C (TTN)	XP_024308867.1:p.Asp9450Ala
XM_024453100.1:c.18203A>C (TTN)	XP_024308868.1:p.Asp6068Ala