Canonical Allele Identifier: CA349494278

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457523C>A (hg19) ; chr2:g.178592796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592796C>A , CM000664.2:g.178592796C>A	GRCh38
NC_000002.11:g.179457523C>A , CM000664.1:g.179457523C>A	GRCh37
NC_000002.10:g.179165769C>A	NCBI36
NG_011618.3:g.243007G>T , LRG_391:g.243007G>T
NG_051363.1:g.74970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51619G>T (TTN)	ENSP00000343764.6:p.Val17207Phe
ENST00000342175.11:c.32704G>T (TTN)	ENSP00000340554.6:p.Val10902Phe
ENST00000359218.10:c.32503G>T (TTN)	ENSP00000352154.5:p.Val10835Phe
ENST00000342175.10:c.32704G>T (TTN)	ENSP00000340554.6:p.Val10902Phe
ENST00000342992.10:c.51619G>T (TTN)	ENSP00000343764.6:p.Val17207Phe
ENST00000359218.9:c.32503G>T (TTN)	ENSP00000352154.5:p.Val10835Phe
ENST00000460472.6:c.32128G>T (TTN)	ENSP00000434586.1:p.Val10710Phe
ENST00000589042.5:c.59323G>T (TTN) MANE Select	ENSP00000467141.1:p.Val19775Phe
ENST00000591111.5:c.54400G>T (TTN)	ENSP00000465570.1:p.Val18134Phe
ENST00000615779.4:c.54400G>T (TTN)	ENSP00000483597.1:p.Val18134Phe
NM_001256850.1:c.54400G>T (TTN)	NP_001243779.1:p.Val18134Phe
NM_001267550.2:c.59323G>T (TTN) MANE Select	NP_001254479.2:p.Val19775Phe
NM_003319.4:c.32128G>T (TTN)	NP_003310.4:p.Val10710Phe
NM_133378.4:c.51619G>T (TTN)	NP_596869.4:p.Val17207Phe
NM_133432.3:c.32503G>T (TTN)	NP_597676.3:p.Val10835Phe
NM_133437.4:c.32704G>T (TTN)	NP_597681.4:p.Val10902Phe
NR_038271.1:n.597-4800C>A (TTN-AS1)
NR_038272.1:n.3364+1482C>A (TTN-AS1)
XM_011511729.1:c.58420G>T (TTN)	XP_011510031.1:p.Val19474Phe
XM_011511730.1:c.32314G>T (TTN)	XP_011510032.1:p.Val10772Phe
XM_011511731.1:c.32173G>T (TTN)	XP_011510033.1:p.Val10725Phe
XM_017004819.1:c.58216G>T (TTN)	XP_016860308.1:p.Val19406Phe
XM_017004820.1:c.53614G>T (TTN)	XP_016860309.1:p.Val17872Phe
XM_017004821.1:c.53611G>T (TTN)	XP_016860310.1:p.Val17871Phe
XM_017004822.1:c.50653G>T (TTN)	XP_016860311.1:p.Val16885Phe
XM_017004823.1:c.32269G>T (TTN)	XP_016860312.1:p.Val10757Phe
XM_024453094.1:c.53764G>T (TTN)	XP_024308862.1:p.Val17922Phe
XM_024453095.1:c.53761G>T (TTN)	XP_024308863.1:p.Val17921Phe
XM_024453096.1:c.53194G>T (TTN)	XP_024308864.1:p.Val17732Phe
XM_024453097.1:c.50536G>T (TTN)	XP_024308865.1:p.Val16846Phe
XM_024453098.1:c.50455G>T (TTN)	XP_024308866.1:p.Val16819Phe
XM_024453099.1:c.32218G>T (TTN)	XP_024308867.1:p.Val10740Phe
XM_024453100.1:c.22072G>T (TTN)	XP_024308868.1:p.Val7358Phe