Canonical Allele Identifier: CA349564278

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427044C>A (hg19) ; chr2:g.178562317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562317C>A , CM000664.2:g.178562317C>A	GRCh38
NC_000002.11:g.179427044C>A , CM000664.1:g.179427044C>A	GRCh37
NC_000002.10:g.179135290C>A	NCBI36
NG_011618.3:g.273486G>T , LRG_391:g.273486G>T
NG_051363.1:g.44491C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76111G>T (TTN)	ENSP00000343764.6:p.Val25371Phe
ENST00000342175.11:c.57196G>T (TTN)	ENSP00000340554.6:p.Val19066Phe
ENST00000359218.10:c.56995G>T (TTN)	ENSP00000352154.5:p.Val18999Phe
ENST00000342175.10:c.57196G>T (TTN)	ENSP00000340554.6:p.Val19066Phe
ENST00000342992.10:c.76111G>T (TTN)	ENSP00000343764.6:p.Val25371Phe
ENST00000359218.9:c.56995G>T (TTN)	ENSP00000352154.5:p.Val18999Phe
ENST00000460472.6:c.56620G>T (TTN)	ENSP00000434586.1:p.Val18874Phe
ENST00000589042.5:c.83815G>T (TTN) MANE Select	ENSP00000467141.1:p.Val27939Phe
ENST00000591111.5:c.78892G>T (TTN)	ENSP00000465570.1:p.Val26298Phe
ENST00000615779.4:c.78892G>T (TTN)	ENSP00000483597.1:p.Val26298Phe
NM_001256850.1:c.78892G>T (TTN)	NP_001243779.1:p.Val26298Phe
NM_001267550.2:c.83815G>T (TTN) MANE Select	NP_001254479.2:p.Val27939Phe
NM_003319.4:c.56620G>T (TTN)	NP_003310.4:p.Val18874Phe
NM_133378.4:c.76111G>T (TTN)	NP_596869.4:p.Val25371Phe
NM_133432.3:c.56995G>T (TTN)	NP_597676.3:p.Val18999Phe
NM_133437.4:c.57196G>T (TTN)	NP_597681.4:p.Val19066Phe
NR_038271.1:n.447-8983C>A (TTN-AS1)
NR_038272.1:n.2043+19956C>A (TTN-AS1)
XM_011511729.1:c.82912G>T (TTN)	XP_011510031.1:p.Val27638Phe
XM_011511730.1:c.56806G>T (TTN)	XP_011510032.1:p.Val18936Phe
XM_011511731.1:c.56665G>T (TTN)	XP_011510033.1:p.Val18889Phe
XM_017004819.1:c.82708G>T (TTN)	XP_016860308.1:p.Val27570Phe
XM_017004820.1:c.78106G>T (TTN)	XP_016860309.1:p.Val26036Phe
XM_017004821.1:c.78103G>T (TTN)	XP_016860310.1:p.Val26035Phe
XM_017004822.1:c.75145G>T (TTN)	XP_016860311.1:p.Val25049Phe
XM_017004823.1:c.56761G>T (TTN)	XP_016860312.1:p.Val18921Phe
XM_024453094.1:c.78256G>T (TTN)	XP_024308862.1:p.Val26086Phe
XM_024453095.1:c.78253G>T (TTN)	XP_024308863.1:p.Val26085Phe
XM_024453096.1:c.77686G>T (TTN)	XP_024308864.1:p.Val25896Phe
XM_024453097.1:c.75028G>T (TTN)	XP_024308865.1:p.Val25010Phe
XM_024453098.1:c.74947G>T (TTN)	XP_024308866.1:p.Val24983Phe
XM_024453099.1:c.56710G>T (TTN)	XP_024308867.1:p.Val18904Phe
XM_024453100.1:c.46564G>T (TTN)	XP_024308868.1:p.Val15522Phe