Canonical Allele Identifier: CA349612398

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433736T>G (hg19) ; chr2:g.178569009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569009T>G , CM000664.2:g.178569009T>G	GRCh38
NC_000002.11:g.179433736T>G , CM000664.1:g.179433736T>G	GRCh37
NC_000002.10:g.179141982T>G	NCBI36
NG_011618.3:g.266794A>C , LRG_391:g.266794A>C
NG_051363.1:g.51183T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69419A>C (TTN)	ENSP00000343764.6:p.Asp23140Ala
ENST00000342175.11:c.50504A>C (TTN)	ENSP00000340554.6:p.Asp16835Ala
ENST00000359218.10:c.50303A>C (TTN)	ENSP00000352154.5:p.Asp16768Ala
ENST00000342175.10:c.50504A>C (TTN)	ENSP00000340554.6:p.Asp16835Ala
ENST00000342992.10:c.69419A>C (TTN)	ENSP00000343764.6:p.Asp23140Ala
ENST00000359218.9:c.50303A>C (TTN)	ENSP00000352154.5:p.Asp16768Ala
ENST00000460472.6:c.49928A>C (TTN)	ENSP00000434586.1:p.Asp16643Ala
ENST00000589042.5:c.77123A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp25708Ala
ENST00000591111.5:c.72200A>C (TTN)	ENSP00000465570.1:p.Asp24067Ala
ENST00000615779.4:c.72200A>C (TTN)	ENSP00000483597.1:p.Asp24067Ala
NM_001256850.1:c.72200A>C (TTN)	NP_001243779.1:p.Asp24067Ala
NM_001267550.2:c.77123A>C (TTN) MANE Select	NP_001254479.2:p.Asp25708Ala
NM_003319.4:c.49928A>C (TTN)	NP_003310.4:p.Asp16643Ala
NM_133378.4:c.69419A>C (TTN)	NP_596869.4:p.Asp23140Ala
NM_133432.3:c.50303A>C (TTN)	NP_597676.3:p.Asp16768Ala
NM_133437.4:c.50504A>C (TTN)	NP_597681.4:p.Asp16835Ala
NR_038271.1:n.447-2291T>G (TTN-AS1)
NR_038272.1:n.2044-13563T>G (TTN-AS1)
XM_011511729.1:c.76220A>C (TTN)	XP_011510031.1:p.Asp25407Ala
XM_011511730.1:c.50114A>C (TTN)	XP_011510032.1:p.Asp16705Ala
XM_011511731.1:c.49973A>C (TTN)	XP_011510033.1:p.Asp16658Ala
XM_017004819.1:c.76016A>C (TTN)	XP_016860308.1:p.Asp25339Ala
XM_017004820.1:c.71414A>C (TTN)	XP_016860309.1:p.Asp23805Ala
XM_017004821.1:c.71411A>C (TTN)	XP_016860310.1:p.Asp23804Ala
XM_017004822.1:c.68453A>C (TTN)	XP_016860311.1:p.Asp22818Ala
XM_017004823.1:c.50069A>C (TTN)	XP_016860312.1:p.Asp16690Ala
XM_024453094.1:c.71564A>C (TTN)	XP_024308862.1:p.Asp23855Ala
XM_024453095.1:c.71561A>C (TTN)	XP_024308863.1:p.Asp23854Ala
XM_024453096.1:c.70994A>C (TTN)	XP_024308864.1:p.Asp23665Ala
XM_024453097.1:c.68336A>C (TTN)	XP_024308865.1:p.Asp22779Ala
XM_024453098.1:c.68255A>C (TTN)	XP_024308866.1:p.Asp22752Ala
XM_024453099.1:c.50018A>C (TTN)	XP_024308867.1:p.Asp16673Ala
XM_024453100.1:c.39872A>C (TTN)	XP_024308868.1:p.Asp13291Ala