Canonical Allele Identifier: CA349422875

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400528A>T (hg19) ; chr2:g.178535801A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535801A>T , CM000664.2:g.178535801A>T	GRCh38
NC_000002.11:g.179400528A>T , CM000664.1:g.179400528A>T	GRCh37
NC_000002.10:g.179108774A>T	NCBI36
NG_011618.3:g.300002T>A , LRG_391:g.300002T>A
NG_051363.1:g.17975A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.93110T>A (TTN)	ENSP00000343764.6:p.Val31037Asp
ENST00000342175.11:c.74195T>A (TTN)	ENSP00000340554.6:p.Val24732Asp
ENST00000359218.10:c.73994T>A (TTN)	ENSP00000352154.5:p.Val24665Asp
ENST00000342175.10:c.74195T>A (TTN)	ENSP00000340554.6:p.Val24732Asp
ENST00000342992.10:c.93110T>A (TTN)	ENSP00000343764.6:p.Val31037Asp
ENST00000359218.9:c.73994T>A (TTN)	ENSP00000352154.5:p.Val24665Asp
ENST00000460472.6:c.73619T>A (TTN)	ENSP00000434586.1:p.Val24540Asp
ENST00000589042.5:c.100814T>A (TTN) MANE Select	ENSP00000467141.1:p.Val33605Asp
ENST00000591111.5:c.95891T>A (TTN)	ENSP00000465570.1:p.Val31964Asp
ENST00000615779.4:c.95891T>A (TTN)	ENSP00000483597.1:p.Val31964Asp
NM_001256850.1:c.95891T>A (TTN)	NP_001243779.1:p.Val31964Asp
NM_001267550.2:c.100814T>A (TTN) MANE Select	NP_001254479.2:p.Val33605Asp
NM_003319.4:c.73619T>A (TTN)	NP_003310.4:p.Val24540Asp
NM_133378.4:c.93110T>A (TTN)	NP_596869.4:p.Val31037Asp
NM_133432.3:c.73994T>A (TTN)	NP_597676.3:p.Val24665Asp
NM_133437.4:c.74195T>A (TTN)	NP_597681.4:p.Val24732Asp
NR_038271.1:n.446+12165A>T (TTN-AS1)
NR_038272.1:n.289A>T (TTN-AS1)
XM_011511729.1:c.99911T>A (TTN)	XP_011510031.1:p.Val33304Asp
XM_011511730.1:c.73805T>A (TTN)	XP_011510032.1:p.Val24602Asp
XM_011511731.1:c.73664T>A (TTN)	XP_011510033.1:p.Val24555Asp
XM_017004819.1:c.99707T>A (TTN)	XP_016860308.1:p.Val33236Asp
XM_017004820.1:c.95105T>A (TTN)	XP_016860309.1:p.Val31702Asp
XM_017004821.1:c.95102T>A (TTN)	XP_016860310.1:p.Val31701Asp
XM_017004822.1:c.92144T>A (TTN)	XP_016860311.1:p.Val30715Asp
XM_017004823.1:c.73760T>A (TTN)	XP_016860312.1:p.Val24587Asp
XM_024453094.1:c.95255T>A (TTN)	XP_024308862.1:p.Val31752Asp
XM_024453095.1:c.95252T>A (TTN)	XP_024308863.1:p.Val31751Asp
XM_024453096.1:c.94685T>A (TTN)	XP_024308864.1:p.Val31562Asp
XM_024453097.1:c.92027T>A (TTN)	XP_024308865.1:p.Val30676Asp
XM_024453098.1:c.91946T>A (TTN)	XP_024308866.1:p.Val30649Asp
XM_024453099.1:c.73709T>A (TTN)	XP_024308867.1:p.Val24570Asp
XM_024453100.1:c.63563T>A (TTN)	XP_024308868.1:p.Val21188Asp