Canonical Allele Identifier: CA1989905

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569649C>T , CM000664.2:g.178569649C>T	GRCh38
NC_000002.11:g.179434376C>T , CM000664.1:g.179434376C>T	GRCh37
NC_000002.10:g.179142622C>T	NCBI36
NG_011618.3:g.266154G>A , LRG_391:g.266154G>A
NG_051363.1:g.51823C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.76483G>A (TTN) MANE Select	NP_001254479.2:p.Val25495Ile
ENST00000589042.5:c.76483G>A (TTN) MANE Select	ENSP00000467141.1:p.Val25495Ile
NM_001256850.1:c.71560G>A (TTN)	NP_001243779.1:p.Val23854Ile
NM_003319.4:c.49288G>A (TTN)	NP_003310.4:p.Val16430Ile
NM_133378.4:c.68779G>A (TTN)	NP_596869.4:p.Val22927Ile
NM_133432.3:c.49663G>A (TTN)	NP_597676.3:p.Val16555Ile
NM_133437.4:c.49864G>A (TTN)	NP_597681.4:p.Val16622Ile
NR_038271.1:n.447-1651C>T (TTN-AS1)
NR_038272.1:n.2044-12923C>T (TTN-AS1)
ENST00000342175.10:c.49864G>A (TTN)	ENSP00000340554.6:p.Val16622Ile
ENST00000342175.11:c.49864G>A (TTN)	ENSP00000340554.6:p.Val16622Ile
ENST00000342992.10:c.68779G>A (TTN)	ENSP00000343764.6:p.Val22927Ile
ENST00000342992.11:c.68779G>A (TTN)	ENSP00000343764.6:p.Val22927Ile
ENST00000359218.10:c.49663G>A (TTN)	ENSP00000352154.5:p.Val16555Ile
ENST00000359218.9:c.49663G>A (TTN)	ENSP00000352154.5:p.Val16555Ile
ENST00000460472.6:c.49288G>A (TTN)	ENSP00000434586.1:p.Val16430Ile
ENST00000591111.5:c.71560G>A (TTN)	ENSP00000465570.1:p.Val23854Ile
ENST00000615779.4:c.71560G>A (TTN)	ENSP00000483597.1:p.Val23854Ile
XM_011511729.1:c.75580G>A (TTN)	XP_011510031.1:p.Val25194Ile
XM_011511730.1:c.49474G>A (TTN)	XP_011510032.1:p.Val16492Ile
XM_011511731.1:c.49333G>A (TTN)	XP_011510033.1:p.Val16445Ile
XM_017004819.1:c.75376G>A (TTN)	XP_016860308.1:p.Val25126Ile
XM_017004820.1:c.70774G>A (TTN)	XP_016860309.1:p.Val23592Ile
XM_017004821.1:c.70771G>A (TTN)	XP_016860310.1:p.Val23591Ile
XM_017004822.1:c.67813G>A (TTN)	XP_016860311.1:p.Val22605Ile
XM_017004823.1:c.49429G>A (TTN)	XP_016860312.1:p.Val16477Ile
XM_024453094.1:c.70924G>A (TTN)	XP_024308862.1:p.Val23642Ile
XM_024453095.1:c.70921G>A (TTN)	XP_024308863.1:p.Val23641Ile
XM_024453096.1:c.70354G>A (TTN)	XP_024308864.1:p.Val23452Ile
XM_024453097.1:c.67696G>A (TTN)	XP_024308865.1:p.Val22566Ile
XM_024453098.1:c.67615G>A (TTN)	XP_024308866.1:p.Val22539Ile
XM_024453099.1:c.49378G>A (TTN)	XP_024308867.1:p.Val16460Ile
XM_024453100.1:c.39232G>A (TTN)	XP_024308868.1:p.Val13078Ile