Canonical Allele Identifier: CA349647788

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438597C>A (hg19) ; chr2:g.178573870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573870C>A , CM000664.2:g.178573870C>A	GRCh38
NC_000002.11:g.179438597C>A , CM000664.1:g.179438597C>A	GRCh37
NC_000002.10:g.179146843C>A	NCBI36
NG_011618.3:g.261933G>T , LRG_391:g.261933G>T
NG_051363.1:g.56044C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64558G>T (TTN)	ENSP00000343764.6:p.Val21520Leu
ENST00000342175.11:c.45643G>T (TTN)	ENSP00000340554.6:p.Val15215Leu
ENST00000359218.10:c.45442G>T (TTN)	ENSP00000352154.5:p.Val15148Leu
ENST00000342175.10:c.45643G>T (TTN)	ENSP00000340554.6:p.Val15215Leu
ENST00000342992.10:c.64558G>T (TTN)	ENSP00000343764.6:p.Val21520Leu
ENST00000359218.9:c.45442G>T (TTN)	ENSP00000352154.5:p.Val15148Leu
ENST00000460472.6:c.45067G>T (TTN)	ENSP00000434586.1:p.Val15023Leu
ENST00000589042.5:c.72262G>T (TTN) MANE Select	ENSP00000467141.1:p.Val24088Leu
ENST00000591111.5:c.67339G>T (TTN)	ENSP00000465570.1:p.Val22447Leu
ENST00000615779.4:c.67339G>T (TTN)	ENSP00000483597.1:p.Val22447Leu
NM_001256850.1:c.67339G>T (TTN)	NP_001243779.1:p.Val22447Leu
NM_001267550.2:c.72262G>T (TTN) MANE Select	NP_001254479.2:p.Val24088Leu
NM_003319.4:c.45067G>T (TTN)	NP_003310.4:p.Val15023Leu
NM_133378.4:c.64558G>T (TTN)	NP_596869.4:p.Val21520Leu
NM_133432.3:c.45442G>T (TTN)	NP_597676.3:p.Val15148Leu
NM_133437.4:c.45643G>T (TTN)	NP_597681.4:p.Val15215Leu
NR_038271.1:n.596+2421C>A (TTN-AS1)
NR_038272.1:n.2044-8702C>A (TTN-AS1)
XM_011511729.1:c.71359G>T (TTN)	XP_011510031.1:p.Val23787Leu
XM_011511730.1:c.45253G>T (TTN)	XP_011510032.1:p.Val15085Leu
XM_011511731.1:c.45112G>T (TTN)	XP_011510033.1:p.Val15038Leu
XM_017004819.1:c.71155G>T (TTN)	XP_016860308.1:p.Val23719Leu
XM_017004820.1:c.66553G>T (TTN)	XP_016860309.1:p.Val22185Leu
XM_017004821.1:c.66550G>T (TTN)	XP_016860310.1:p.Val22184Leu
XM_017004822.1:c.63592G>T (TTN)	XP_016860311.1:p.Val21198Leu
XM_017004823.1:c.45208G>T (TTN)	XP_016860312.1:p.Val15070Leu
XM_024453094.1:c.66703G>T (TTN)	XP_024308862.1:p.Val22235Leu
XM_024453095.1:c.66700G>T (TTN)	XP_024308863.1:p.Val22234Leu
XM_024453096.1:c.66133G>T (TTN)	XP_024308864.1:p.Val22045Leu
XM_024453097.1:c.63475G>T (TTN)	XP_024308865.1:p.Val21159Leu
XM_024453098.1:c.63394G>T (TTN)	XP_024308866.1:p.Val21132Leu
XM_024453099.1:c.45157G>T (TTN)	XP_024308867.1:p.Val15053Leu
XM_024453100.1:c.35011G>T (TTN)	XP_024308868.1:p.Val11671Leu