Canonical Allele Identifier: CA349488483

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456611C>T (hg19) ; chr2:g.178591884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591884C>T , CM000664.2:g.178591884C>T	GRCh38
NC_000002.11:g.179456611C>T , CM000664.1:g.179456611C>T	GRCh37
NC_000002.10:g.179164857C>T	NCBI36
NG_011618.3:g.243919G>A , LRG_391:g.243919G>A
NG_051363.1:g.74058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52231G>A (TTN)	ENSP00000343764.6:p.Gly17411Arg
ENST00000342175.11:c.33316G>A (TTN)	ENSP00000340554.6:p.Gly11106Arg
ENST00000359218.10:c.33115G>A (TTN)	ENSP00000352154.5:p.Gly11039Arg
ENST00000342175.10:c.33316G>A (TTN)	ENSP00000340554.6:p.Gly11106Arg
ENST00000342992.10:c.52231G>A (TTN)	ENSP00000343764.6:p.Gly17411Arg
ENST00000359218.9:c.33115G>A (TTN)	ENSP00000352154.5:p.Gly11039Arg
ENST00000460472.6:c.32740G>A (TTN)	ENSP00000434586.1:p.Gly10914Arg
ENST00000589042.5:c.59935G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly19979Arg
ENST00000591111.5:c.55012G>A (TTN)	ENSP00000465570.1:p.Gly18338Arg
ENST00000615779.4:c.55012G>A (TTN)	ENSP00000483597.1:p.Gly18338Arg
NM_001256850.1:c.55012G>A (TTN)	NP_001243779.1:p.Gly18338Arg
NM_001267550.2:c.59935G>A (TTN) MANE Select	NP_001254479.2:p.Gly19979Arg
NM_003319.4:c.32740G>A (TTN)	NP_003310.4:p.Gly10914Arg
NM_133378.4:c.52231G>A (TTN)	NP_596869.4:p.Gly17411Arg
NM_133432.3:c.33115G>A (TTN)	NP_597676.3:p.Gly11039Arg
NM_133437.4:c.33316G>A (TTN)	NP_597681.4:p.Gly11106Arg
NR_038271.1:n.597-5712C>T (TTN-AS1)
NR_038272.1:n.3364+570C>T (TTN-AS1)
XM_011511729.1:c.59032G>A (TTN)	XP_011510031.1:p.Gly19678Arg
XM_011511730.1:c.32926G>A (TTN)	XP_011510032.1:p.Gly10976Arg
XM_011511731.1:c.32785G>A (TTN)	XP_011510033.1:p.Gly10929Arg
XM_017004819.1:c.58828G>A (TTN)	XP_016860308.1:p.Gly19610Arg
XM_017004820.1:c.54226G>A (TTN)	XP_016860309.1:p.Gly18076Arg
XM_017004821.1:c.54223G>A (TTN)	XP_016860310.1:p.Gly18075Arg
XM_017004822.1:c.51265G>A (TTN)	XP_016860311.1:p.Gly17089Arg
XM_017004823.1:c.32881G>A (TTN)	XP_016860312.1:p.Gly10961Arg
XM_024453094.1:c.54376G>A (TTN)	XP_024308862.1:p.Gly18126Arg
XM_024453095.1:c.54373G>A (TTN)	XP_024308863.1:p.Gly18125Arg
XM_024453096.1:c.53806G>A (TTN)	XP_024308864.1:p.Gly17936Arg
XM_024453097.1:c.51148G>A (TTN)	XP_024308865.1:p.Gly17050Arg
XM_024453098.1:c.51067G>A (TTN)	XP_024308866.1:p.Gly17023Arg
XM_024453099.1:c.32830G>A (TTN)	XP_024308867.1:p.Gly10944Arg
XM_024453100.1:c.22684G>A (TTN)	XP_024308868.1:p.Gly7562Arg