Canonical Allele Identifier: CA349612415

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433739A>T (hg19) ; chr2:g.178569012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569012A>T , CM000664.2:g.178569012A>T	GRCh38
NC_000002.11:g.179433739A>T , CM000664.1:g.179433739A>T	GRCh37
NC_000002.10:g.179141985A>T	NCBI36
NG_011618.3:g.266791T>A , LRG_391:g.266791T>A
NG_051363.1:g.51186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69416T>A (TTN)	ENSP00000343764.6:p.Val23139Glu
ENST00000342175.11:c.50501T>A (TTN)	ENSP00000340554.6:p.Val16834Glu
ENST00000359218.10:c.50300T>A (TTN)	ENSP00000352154.5:p.Val16767Glu
ENST00000342175.10:c.50501T>A (TTN)	ENSP00000340554.6:p.Val16834Glu
ENST00000342992.10:c.69416T>A (TTN)	ENSP00000343764.6:p.Val23139Glu
ENST00000359218.9:c.50300T>A (TTN)	ENSP00000352154.5:p.Val16767Glu
ENST00000460472.6:c.49925T>A (TTN)	ENSP00000434586.1:p.Val16642Glu
ENST00000589042.5:c.77120T>A (TTN) MANE Select	ENSP00000467141.1:p.Val25707Glu
ENST00000591111.5:c.72197T>A (TTN)	ENSP00000465570.1:p.Val24066Glu
ENST00000615779.4:c.72197T>A (TTN)	ENSP00000483597.1:p.Val24066Glu
NM_001256850.1:c.72197T>A (TTN)	NP_001243779.1:p.Val24066Glu
NM_001267550.2:c.77120T>A (TTN) MANE Select	NP_001254479.2:p.Val25707Glu
NM_003319.4:c.49925T>A (TTN)	NP_003310.4:p.Val16642Glu
NM_133378.4:c.69416T>A (TTN)	NP_596869.4:p.Val23139Glu
NM_133432.3:c.50300T>A (TTN)	NP_597676.3:p.Val16767Glu
NM_133437.4:c.50501T>A (TTN)	NP_597681.4:p.Val16834Glu
NR_038271.1:n.447-2288A>T (TTN-AS1)
NR_038272.1:n.2044-13560A>T (TTN-AS1)
XM_011511729.1:c.76217T>A (TTN)	XP_011510031.1:p.Val25406Glu
XM_011511730.1:c.50111T>A (TTN)	XP_011510032.1:p.Val16704Glu
XM_011511731.1:c.49970T>A (TTN)	XP_011510033.1:p.Val16657Glu
XM_017004819.1:c.76013T>A (TTN)	XP_016860308.1:p.Val25338Glu
XM_017004820.1:c.71411T>A (TTN)	XP_016860309.1:p.Val23804Glu
XM_017004821.1:c.71408T>A (TTN)	XP_016860310.1:p.Val23803Glu
XM_017004822.1:c.68450T>A (TTN)	XP_016860311.1:p.Val22817Glu
XM_017004823.1:c.50066T>A (TTN)	XP_016860312.1:p.Val16689Glu
XM_024453094.1:c.71561T>A (TTN)	XP_024308862.1:p.Val23854Glu
XM_024453095.1:c.71558T>A (TTN)	XP_024308863.1:p.Val23853Glu
XM_024453096.1:c.70991T>A (TTN)	XP_024308864.1:p.Val23664Glu
XM_024453097.1:c.68333T>A (TTN)	XP_024308865.1:p.Val22778Glu
XM_024453098.1:c.68252T>A (TTN)	XP_024308866.1:p.Val22751Glu
XM_024453099.1:c.50015T>A (TTN)	XP_024308867.1:p.Val16672Glu
XM_024453100.1:c.39869T>A (TTN)	XP_024308868.1:p.Val13290Glu