Canonical Allele Identifier: CA349464898

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454044C>A (hg19) ; chr2:g.178589317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589317C>A , CM000664.2:g.178589317C>A	GRCh38
NC_000002.11:g.179454044C>A , CM000664.1:g.179454044C>A	GRCh37
NC_000002.10:g.179162290C>A	NCBI36
NG_011618.3:g.246486G>T , LRG_391:g.246486G>T
NG_051363.1:g.71491C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54704G>T (TTN)	ENSP00000343764.6:p.Trp18235Leu
ENST00000342175.11:c.35789G>T (TTN)	ENSP00000340554.6:p.Trp11930Leu
ENST00000359218.10:c.35588G>T (TTN)	ENSP00000352154.5:p.Trp11863Leu
ENST00000342175.10:c.35789G>T (TTN)	ENSP00000340554.6:p.Trp11930Leu
ENST00000342992.10:c.54704G>T (TTN)	ENSP00000343764.6:p.Trp18235Leu
ENST00000359218.9:c.35588G>T (TTN)	ENSP00000352154.5:p.Trp11863Leu
ENST00000460472.6:c.35213G>T (TTN)	ENSP00000434586.1:p.Trp11738Leu
ENST00000589042.5:c.62408G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp20803Leu
ENST00000591111.5:c.57485G>T (TTN)	ENSP00000465570.1:p.Trp19162Leu
ENST00000615779.4:c.57485G>T (TTN)	ENSP00000483597.1:p.Trp19162Leu
NM_001256850.1:c.57485G>T (TTN)	NP_001243779.1:p.Trp19162Leu
NM_001267550.2:c.62408G>T (TTN) MANE Select	NP_001254479.2:p.Trp20803Leu
NM_003319.4:c.35213G>T (TTN)	NP_003310.4:p.Trp11738Leu
NM_133378.4:c.54704G>T (TTN)	NP_596869.4:p.Trp18235Leu
NM_133432.3:c.35588G>T (TTN)	NP_597676.3:p.Trp11863Leu
NM_133437.4:c.35789G>T (TTN)	NP_597681.4:p.Trp11930Leu
NR_038271.1:n.597-8279C>A (TTN-AS1)
NR_038272.1:n.3189-1822C>A (TTN-AS1)
XM_011511729.1:c.61505G>T (TTN)	XP_011510031.1:p.Trp20502Leu
XM_011511730.1:c.35399G>T (TTN)	XP_011510032.1:p.Trp11800Leu
XM_011511731.1:c.35258G>T (TTN)	XP_011510033.1:p.Trp11753Leu
XM_017004819.1:c.61301G>T (TTN)	XP_016860308.1:p.Trp20434Leu
XM_017004820.1:c.56699G>T (TTN)	XP_016860309.1:p.Trp18900Leu
XM_017004821.1:c.56696G>T (TTN)	XP_016860310.1:p.Trp18899Leu
XM_017004822.1:c.53738G>T (TTN)	XP_016860311.1:p.Trp17913Leu
XM_017004823.1:c.35354G>T (TTN)	XP_016860312.1:p.Trp11785Leu
XM_024453094.1:c.56849G>T (TTN)	XP_024308862.1:p.Trp18950Leu
XM_024453095.1:c.56846G>T (TTN)	XP_024308863.1:p.Trp18949Leu
XM_024453096.1:c.56279G>T (TTN)	XP_024308864.1:p.Trp18760Leu
XM_024453097.1:c.53621G>T (TTN)	XP_024308865.1:p.Trp17874Leu
XM_024453098.1:c.53540G>T (TTN)	XP_024308866.1:p.Trp17847Leu
XM_024453099.1:c.35303G>T (TTN)	XP_024308867.1:p.Trp11768Leu
XM_024453100.1:c.25157G>T (TTN)	XP_024308868.1:p.Trp8386Leu