Canonical Allele Identifier: CA349621042

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435183A>T (hg19) ; chr2:g.178570456A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570456A>T , CM000664.2:g.178570456A>T	GRCh38
NC_000002.11:g.179435183A>T , CM000664.1:g.179435183A>T	GRCh37
NC_000002.10:g.179143429A>T	NCBI36
NG_011618.3:g.265347T>A , LRG_391:g.265347T>A
NG_051363.1:g.52630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67972T>A (TTN)	ENSP00000343764.6:p.Trp22658Arg
ENST00000342175.11:c.49057T>A (TTN)	ENSP00000340554.6:p.Trp16353Arg
ENST00000359218.10:c.48856T>A (TTN)	ENSP00000352154.5:p.Trp16286Arg
ENST00000342175.10:c.49057T>A (TTN)	ENSP00000340554.6:p.Trp16353Arg
ENST00000342992.10:c.67972T>A (TTN)	ENSP00000343764.6:p.Trp22658Arg
ENST00000359218.9:c.48856T>A (TTN)	ENSP00000352154.5:p.Trp16286Arg
ENST00000460472.6:c.48481T>A (TTN)	ENSP00000434586.1:p.Trp16161Arg
ENST00000589042.5:c.75676T>A (TTN) MANE Select	ENSP00000467141.1:p.Trp25226Arg
ENST00000591111.5:c.70753T>A (TTN)	ENSP00000465570.1:p.Trp23585Arg
ENST00000615779.4:c.70753T>A (TTN)	ENSP00000483597.1:p.Trp23585Arg
NM_001256850.1:c.70753T>A (TTN)	NP_001243779.1:p.Trp23585Arg
NM_001267550.2:c.75676T>A (TTN) MANE Select	NP_001254479.2:p.Trp25226Arg
NM_003319.4:c.48481T>A (TTN)	NP_003310.4:p.Trp16161Arg
NM_133378.4:c.67972T>A (TTN)	NP_596869.4:p.Trp22658Arg
NM_133432.3:c.48856T>A (TTN)	NP_597676.3:p.Trp16286Arg
NM_133437.4:c.49057T>A (TTN)	NP_597681.4:p.Trp16353Arg
NR_038271.1:n.447-844A>T (TTN-AS1)
NR_038272.1:n.2044-12116A>T (TTN-AS1)
XM_011511729.1:c.74773T>A (TTN)	XP_011510031.1:p.Trp24925Arg
XM_011511730.1:c.48667T>A (TTN)	XP_011510032.1:p.Trp16223Arg
XM_011511731.1:c.48526T>A (TTN)	XP_011510033.1:p.Trp16176Arg
XM_017004819.1:c.74569T>A (TTN)	XP_016860308.1:p.Trp24857Arg
XM_017004820.1:c.69967T>A (TTN)	XP_016860309.1:p.Trp23323Arg
XM_017004821.1:c.69964T>A (TTN)	XP_016860310.1:p.Trp23322Arg
XM_017004822.1:c.67006T>A (TTN)	XP_016860311.1:p.Trp22336Arg
XM_017004823.1:c.48622T>A (TTN)	XP_016860312.1:p.Trp16208Arg
XM_024453094.1:c.70117T>A (TTN)	XP_024308862.1:p.Trp23373Arg
XM_024453095.1:c.70114T>A (TTN)	XP_024308863.1:p.Trp23372Arg
XM_024453096.1:c.69547T>A (TTN)	XP_024308864.1:p.Trp23183Arg
XM_024453097.1:c.66889T>A (TTN)	XP_024308865.1:p.Trp22297Arg
XM_024453098.1:c.66808T>A (TTN)	XP_024308866.1:p.Trp22270Arg
XM_024453099.1:c.48571T>A (TTN)	XP_024308867.1:p.Trp16191Arg
XM_024453100.1:c.38425T>A (TTN)	XP_024308868.1:p.Trp12809Arg