Canonical Allele Identifier: CA349594289

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431157T>G (hg19) ; chr2:g.178566430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566430T>G , CM000664.2:g.178566430T>G	GRCh38
NC_000002.11:g.179431157T>G , CM000664.1:g.179431157T>G	GRCh37
NC_000002.10:g.179139403T>G	NCBI36
NG_011618.3:g.269373A>C , LRG_391:g.269373A>C
NG_051363.1:g.48604T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71998A>C (TTN)	ENSP00000343764.6:p.Lys24000Gln
ENST00000342175.11:c.53083A>C (TTN)	ENSP00000340554.6:p.Lys17695Gln
ENST00000359218.10:c.52882A>C (TTN)	ENSP00000352154.5:p.Lys17628Gln
ENST00000342175.10:c.53083A>C (TTN)	ENSP00000340554.6:p.Lys17695Gln
ENST00000342992.10:c.71998A>C (TTN)	ENSP00000343764.6:p.Lys24000Gln
ENST00000359218.9:c.52882A>C (TTN)	ENSP00000352154.5:p.Lys17628Gln
ENST00000460472.6:c.52507A>C (TTN)	ENSP00000434586.1:p.Lys17503Gln
ENST00000589042.5:c.79702A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys26568Gln
ENST00000591111.5:c.74779A>C (TTN)	ENSP00000465570.1:p.Lys24927Gln
ENST00000615779.4:c.74779A>C (TTN)	ENSP00000483597.1:p.Lys24927Gln
NM_001256850.1:c.74779A>C (TTN)	NP_001243779.1:p.Lys24927Gln
NM_001267550.2:c.79702A>C (TTN) MANE Select	NP_001254479.2:p.Lys26568Gln
NM_003319.4:c.52507A>C (TTN)	NP_003310.4:p.Lys17503Gln
NM_133378.4:c.71998A>C (TTN)	NP_596869.4:p.Lys24000Gln
NM_133432.3:c.52882A>C (TTN)	NP_597676.3:p.Lys17628Gln
NM_133437.4:c.53083A>C (TTN)	NP_597681.4:p.Lys17695Gln
NR_038271.1:n.447-4870T>G (TTN-AS1)
NR_038272.1:n.2044-16142T>G (TTN-AS1)
XM_011511729.1:c.78799A>C (TTN)	XP_011510031.1:p.Lys26267Gln
XM_011511730.1:c.52693A>C (TTN)	XP_011510032.1:p.Lys17565Gln
XM_011511731.1:c.52552A>C (TTN)	XP_011510033.1:p.Lys17518Gln
XM_017004819.1:c.78595A>C (TTN)	XP_016860308.1:p.Lys26199Gln
XM_017004820.1:c.73993A>C (TTN)	XP_016860309.1:p.Lys24665Gln
XM_017004821.1:c.73990A>C (TTN)	XP_016860310.1:p.Lys24664Gln
XM_017004822.1:c.71032A>C (TTN)	XP_016860311.1:p.Lys23678Gln
XM_017004823.1:c.52648A>C (TTN)	XP_016860312.1:p.Lys17550Gln
XM_024453094.1:c.74143A>C (TTN)	XP_024308862.1:p.Lys24715Gln
XM_024453095.1:c.74140A>C (TTN)	XP_024308863.1:p.Lys24714Gln
XM_024453096.1:c.73573A>C (TTN)	XP_024308864.1:p.Lys24525Gln
XM_024453097.1:c.70915A>C (TTN)	XP_024308865.1:p.Lys23639Gln
XM_024453098.1:c.70834A>C (TTN)	XP_024308866.1:p.Lys23612Gln
XM_024453099.1:c.52597A>C (TTN)	XP_024308867.1:p.Lys17533Gln
XM_024453100.1:c.42451A>C (TTN)	XP_024308868.1:p.Lys14151Gln