Canonical Allele Identifier: CA349504214

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416581A>T (hg19) ; chr2:g.178551854A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551854A>T , CM000664.2:g.178551854A>T	GRCh38
NC_000002.11:g.179416581A>T , CM000664.1:g.179416581A>T	GRCh37
NC_000002.10:g.179124827A>T	NCBI36
NG_011618.3:g.283949T>A , LRG_391:g.283949T>A
NG_051363.1:g.34028A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83342T>A (TTN)	ENSP00000343764.6:p.Val27781Asp
ENST00000342175.11:c.64427T>A (TTN)	ENSP00000340554.6:p.Val21476Asp
ENST00000359218.10:c.64226T>A (TTN)	ENSP00000352154.5:p.Val21409Asp
ENST00000342175.10:c.64427T>A (TTN)	ENSP00000340554.6:p.Val21476Asp
ENST00000342992.10:c.83342T>A (TTN)	ENSP00000343764.6:p.Val27781Asp
ENST00000359218.9:c.64226T>A (TTN)	ENSP00000352154.5:p.Val21409Asp
ENST00000460472.6:c.63851T>A (TTN)	ENSP00000434586.1:p.Val21284Asp
ENST00000589042.5:c.91046T>A (TTN) MANE Select	ENSP00000467141.1:p.Val30349Asp
ENST00000591111.5:c.86123T>A (TTN)	ENSP00000465570.1:p.Val28708Asp
ENST00000615779.4:c.86123T>A (TTN)	ENSP00000483597.1:p.Val28708Asp
NM_001256850.1:c.86123T>A (TTN)	NP_001243779.1:p.Val28708Asp
NM_001267550.2:c.91046T>A (TTN) MANE Select	NP_001254479.2:p.Val30349Asp
NM_003319.4:c.63851T>A (TTN)	NP_003310.4:p.Val21284Asp
NM_133378.4:c.83342T>A (TTN)	NP_596869.4:p.Val27781Asp
NM_133432.3:c.64226T>A (TTN)	NP_597676.3:p.Val21409Asp
NM_133437.4:c.64427T>A (TTN)	NP_597681.4:p.Val21476Asp
NR_038271.1:n.447-19446A>T (TTN-AS1)
NR_038272.1:n.2043+9493A>T (TTN-AS1)
XM_011511729.1:c.90143T>A (TTN)	XP_011510031.1:p.Val30048Asp
XM_011511730.1:c.64037T>A (TTN)	XP_011510032.1:p.Val21346Asp
XM_011511731.1:c.63896T>A (TTN)	XP_011510033.1:p.Val21299Asp
XM_017004819.1:c.89939T>A (TTN)	XP_016860308.1:p.Val29980Asp
XM_017004820.1:c.85337T>A (TTN)	XP_016860309.1:p.Val28446Asp
XM_017004821.1:c.85334T>A (TTN)	XP_016860310.1:p.Val28445Asp
XM_017004822.1:c.82376T>A (TTN)	XP_016860311.1:p.Val27459Asp
XM_017004823.1:c.63992T>A (TTN)	XP_016860312.1:p.Val21331Asp
XM_024453094.1:c.85487T>A (TTN)	XP_024308862.1:p.Val28496Asp
XM_024453095.1:c.85484T>A (TTN)	XP_024308863.1:p.Val28495Asp
XM_024453096.1:c.84917T>A (TTN)	XP_024308864.1:p.Val28306Asp
XM_024453097.1:c.82259T>A (TTN)	XP_024308865.1:p.Val27420Asp
XM_024453098.1:c.82178T>A (TTN)	XP_024308866.1:p.Val27393Asp
XM_024453099.1:c.63941T>A (TTN)	XP_024308867.1:p.Val21314Asp
XM_024453100.1:c.53795T>A (TTN)	XP_024308868.1:p.Val17932Asp