Canonical Allele Identifier: CA349562696

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179426810C>A (hg19) ; chr2:g.178562083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562083C>A , CM000664.2:g.178562083C>A	GRCh38
NC_000002.11:g.179426810C>A , CM000664.1:g.179426810C>A	GRCh37
NC_000002.10:g.179135056C>A	NCBI36
NG_011618.3:g.273720G>T , LRG_391:g.273720G>T
NG_051363.1:g.44257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.76345G>T (TTN)	ENSP00000343764.6:p.Val25449Leu
ENST00000342175.11:c.57430G>T (TTN)	ENSP00000340554.6:p.Val19144Leu
ENST00000359218.10:c.57229G>T (TTN)	ENSP00000352154.5:p.Val19077Leu
ENST00000342175.10:c.57430G>T (TTN)	ENSP00000340554.6:p.Val19144Leu
ENST00000342992.10:c.76345G>T (TTN)	ENSP00000343764.6:p.Val25449Leu
ENST00000359218.9:c.57229G>T (TTN)	ENSP00000352154.5:p.Val19077Leu
ENST00000460472.6:c.56854G>T (TTN)	ENSP00000434586.1:p.Val18952Leu
ENST00000589042.5:c.84049G>T (TTN) MANE Select	ENSP00000467141.1:p.Val28017Leu
ENST00000591111.5:c.79126G>T (TTN)	ENSP00000465570.1:p.Val26376Leu
ENST00000615779.4:c.79126G>T (TTN)	ENSP00000483597.1:p.Val26376Leu
NM_001256850.1:c.79126G>T (TTN)	NP_001243779.1:p.Val26376Leu
NM_001267550.2:c.84049G>T (TTN) MANE Select	NP_001254479.2:p.Val28017Leu
NM_003319.4:c.56854G>T (TTN)	NP_003310.4:p.Val18952Leu
NM_133378.4:c.76345G>T (TTN)	NP_596869.4:p.Val25449Leu
NM_133432.3:c.57229G>T (TTN)	NP_597676.3:p.Val19077Leu
NM_133437.4:c.57430G>T (TTN)	NP_597681.4:p.Val19144Leu
NR_038271.1:n.447-9217C>A (TTN-AS1)
NR_038272.1:n.2043+19722C>A (TTN-AS1)
XM_011511729.1:c.83146G>T (TTN)	XP_011510031.1:p.Val27716Leu
XM_011511730.1:c.57040G>T (TTN)	XP_011510032.1:p.Val19014Leu
XM_011511731.1:c.56899G>T (TTN)	XP_011510033.1:p.Val18967Leu
XM_017004819.1:c.82942G>T (TTN)	XP_016860308.1:p.Val27648Leu
XM_017004820.1:c.78340G>T (TTN)	XP_016860309.1:p.Val26114Leu
XM_017004821.1:c.78337G>T (TTN)	XP_016860310.1:p.Val26113Leu
XM_017004822.1:c.75379G>T (TTN)	XP_016860311.1:p.Val25127Leu
XM_017004823.1:c.56995G>T (TTN)	XP_016860312.1:p.Val18999Leu
XM_024453094.1:c.78490G>T (TTN)	XP_024308862.1:p.Val26164Leu
XM_024453095.1:c.78487G>T (TTN)	XP_024308863.1:p.Val26163Leu
XM_024453096.1:c.77920G>T (TTN)	XP_024308864.1:p.Val25974Leu
XM_024453097.1:c.75262G>T (TTN)	XP_024308865.1:p.Val25088Leu
XM_024453098.1:c.75181G>T (TTN)	XP_024308866.1:p.Val25061Leu
XM_024453099.1:c.56944G>T (TTN)	XP_024308867.1:p.Val18982Leu
XM_024453100.1:c.46798G>T (TTN)	XP_024308868.1:p.Val15600Leu