Canonical Allele Identifier: CA349618381

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482805A>T (hg19) ; chr2:g.178618078A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618078A>T , CM000664.2:g.178618078A>T	GRCh38
NC_000002.11:g.179482805A>T , CM000664.1:g.179482805A>T	GRCh37
NC_000002.10:g.179191050A>T	NCBI36
NG_011618.3:g.217725T>A , LRG_391:g.217725T>A
NG_051363.1:g.100252A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39569T>A (TTN)	ENSP00000343764.6:p.Val13190Asp
ENST00000342175.11:c.20654T>A (TTN)	ENSP00000340554.6:p.Val6885Asp
ENST00000359218.10:c.20453T>A (TTN)	ENSP00000352154.5:p.Val6818Asp
ENST00000342175.10:c.20654T>A (TTN)	ENSP00000340554.6:p.Val6885Asp
ENST00000342992.10:c.39569T>A (TTN)	ENSP00000343764.6:p.Val13190Asp
ENST00000359218.9:c.20453T>A (TTN)	ENSP00000352154.5:p.Val6818Asp
ENST00000460472.6:c.20078T>A (TTN)	ENSP00000434586.1:p.Val6693Asp
ENST00000589042.5:c.47273T>A (TTN) MANE Select	ENSP00000467141.1:p.Val15758Asp
ENST00000591111.5:c.42350T>A (TTN)	ENSP00000465570.1:p.Val14117Asp
ENST00000615779.4:c.42350T>A (TTN)	ENSP00000483597.1:p.Val14117Asp
NM_001256850.1:c.42350T>A (TTN)	NP_001243779.1:p.Val14117Asp
NM_001267550.2:c.47273T>A (TTN) MANE Select	NP_001254479.2:p.Val15758Asp
NM_003319.4:c.20078T>A (TTN)	NP_003310.4:p.Val6693Asp
NM_133378.4:c.39569T>A (TTN)	NP_596869.4:p.Val13190Asp
NM_133432.3:c.20453T>A (TTN)	NP_597676.3:p.Val6818Asp
NM_133437.4:c.20654T>A (TTN)	NP_597681.4:p.Val6885Asp
NR_038271.1:n.1605-1675A>T (TTN-AS1)
XM_011511729.1:c.46370T>A (TTN)	XP_011510031.1:p.Val15457Asp
XM_011511730.1:c.20264T>A (TTN)	XP_011510032.1:p.Val6755Asp
XM_011511731.1:c.20123T>A (TTN)	XP_011510033.1:p.Val6708Asp
XM_017004819.1:c.46166T>A (TTN)	XP_016860308.1:p.Val15389Asp
XM_017004820.1:c.41564T>A (TTN)	XP_016860309.1:p.Val13855Asp
XM_017004821.1:c.41561T>A (TTN)	XP_016860310.1:p.Val13854Asp
XM_017004822.1:c.38603T>A (TTN)	XP_016860311.1:p.Val12868Asp
XM_017004823.1:c.20219T>A (TTN)	XP_016860312.1:p.Val6740Asp
XM_024453094.1:c.41714T>A (TTN)	XP_024308862.1:p.Val13905Asp
XM_024453095.1:c.41711T>A (TTN)	XP_024308863.1:p.Val13904Asp
XM_024453096.1:c.41144T>A (TTN)	XP_024308864.1:p.Val13715Asp
XM_024453097.1:c.38486T>A (TTN)	XP_024308865.1:p.Val12829Asp
XM_024453098.1:c.38405T>A (TTN)	XP_024308866.1:p.Val12802Asp
XM_024453099.1:c.20168T>A (TTN)	XP_024308867.1:p.Val6723Asp
XM_024453100.1:c.10022T>A (TTN)	XP_024308868.1:p.Val3341Asp