Canonical Allele Identifier: CA349621800

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435276C>A (hg19) ; chr2:g.178570549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570549C>A , CM000664.2:g.178570549C>A	GRCh38
NC_000002.11:g.179435276C>A , CM000664.1:g.179435276C>A	GRCh37
NC_000002.10:g.179143522C>A	NCBI36
NG_011618.3:g.265254G>T , LRG_391:g.265254G>T
NG_051363.1:g.52723C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67879G>T (TTN)	ENSP00000343764.6:p.Val22627Phe
ENST00000342175.11:c.48964G>T (TTN)	ENSP00000340554.6:p.Val16322Phe
ENST00000359218.10:c.48763G>T (TTN)	ENSP00000352154.5:p.Val16255Phe
ENST00000342175.10:c.48964G>T (TTN)	ENSP00000340554.6:p.Val16322Phe
ENST00000342992.10:c.67879G>T (TTN)	ENSP00000343764.6:p.Val22627Phe
ENST00000359218.9:c.48763G>T (TTN)	ENSP00000352154.5:p.Val16255Phe
ENST00000460472.6:c.48388G>T (TTN)	ENSP00000434586.1:p.Val16130Phe
ENST00000589042.5:c.75583G>T (TTN) MANE Select	ENSP00000467141.1:p.Val25195Phe
ENST00000591111.5:c.70660G>T (TTN)	ENSP00000465570.1:p.Val23554Phe
ENST00000615779.4:c.70660G>T (TTN)	ENSP00000483597.1:p.Val23554Phe
NM_001256850.1:c.70660G>T (TTN)	NP_001243779.1:p.Val23554Phe
NM_001267550.2:c.75583G>T (TTN) MANE Select	NP_001254479.2:p.Val25195Phe
NM_003319.4:c.48388G>T (TTN)	NP_003310.4:p.Val16130Phe
NM_133378.4:c.67879G>T (TTN)	NP_596869.4:p.Val22627Phe
NM_133432.3:c.48763G>T (TTN)	NP_597676.3:p.Val16255Phe
NM_133437.4:c.48964G>T (TTN)	NP_597681.4:p.Val16322Phe
NR_038271.1:n.447-751C>A (TTN-AS1)
NR_038272.1:n.2044-12023C>A (TTN-AS1)
XM_011511729.1:c.74680G>T (TTN)	XP_011510031.1:p.Val24894Phe
XM_011511730.1:c.48574G>T (TTN)	XP_011510032.1:p.Val16192Phe
XM_011511731.1:c.48433G>T (TTN)	XP_011510033.1:p.Val16145Phe
XM_017004819.1:c.74476G>T (TTN)	XP_016860308.1:p.Val24826Phe
XM_017004820.1:c.69874G>T (TTN)	XP_016860309.1:p.Val23292Phe
XM_017004821.1:c.69871G>T (TTN)	XP_016860310.1:p.Val23291Phe
XM_017004822.1:c.66913G>T (TTN)	XP_016860311.1:p.Val22305Phe
XM_017004823.1:c.48529G>T (TTN)	XP_016860312.1:p.Val16177Phe
XM_024453094.1:c.70024G>T (TTN)	XP_024308862.1:p.Val23342Phe
XM_024453095.1:c.70021G>T (TTN)	XP_024308863.1:p.Val23341Phe
XM_024453096.1:c.69454G>T (TTN)	XP_024308864.1:p.Val23152Phe
XM_024453097.1:c.66796G>T (TTN)	XP_024308865.1:p.Val22266Phe
XM_024453098.1:c.66715G>T (TTN)	XP_024308866.1:p.Val22239Phe
XM_024453099.1:c.48478G>T (TTN)	XP_024308867.1:p.Val16160Phe
XM_024453100.1:c.38332G>T (TTN)	XP_024308868.1:p.Val12778Phe