Canonical Allele Identifier: CA349657831

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439518C>A (hg19) ; chr2:g.178574791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574791C>A , CM000664.2:g.178574791C>A	GRCh38
NC_000002.11:g.179439518C>A , CM000664.1:g.179439518C>A	GRCh37
NC_000002.10:g.179147764C>A	NCBI36
NG_011618.3:g.261012G>T , LRG_391:g.261012G>T
NG_051363.1:g.56965C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63637G>T (TTN)	ENSP00000343764.6:p.Val21213Phe
ENST00000342175.11:c.44722G>T (TTN)	ENSP00000340554.6:p.Val14908Phe
ENST00000359218.10:c.44521G>T (TTN)	ENSP00000352154.5:p.Val14841Phe
ENST00000342175.10:c.44722G>T (TTN)	ENSP00000340554.6:p.Val14908Phe
ENST00000342992.10:c.63637G>T (TTN)	ENSP00000343764.6:p.Val21213Phe
ENST00000359218.9:c.44521G>T (TTN)	ENSP00000352154.5:p.Val14841Phe
ENST00000460472.6:c.44146G>T (TTN)	ENSP00000434586.1:p.Val14716Phe
ENST00000589042.5:c.71341G>T (TTN) MANE Select	ENSP00000467141.1:p.Val23781Phe
ENST00000591111.5:c.66418G>T (TTN)	ENSP00000465570.1:p.Val22140Phe
ENST00000615779.4:c.66418G>T (TTN)	ENSP00000483597.1:p.Val22140Phe
NM_001256850.1:c.66418G>T (TTN)	NP_001243779.1:p.Val22140Phe
NM_001267550.2:c.71341G>T (TTN) MANE Select	NP_001254479.2:p.Val23781Phe
NM_003319.4:c.44146G>T (TTN)	NP_003310.4:p.Val14716Phe
NM_133378.4:c.63637G>T (TTN)	NP_596869.4:p.Val21213Phe
NM_133432.3:c.44521G>T (TTN)	NP_597676.3:p.Val14841Phe
NM_133437.4:c.44722G>T (TTN)	NP_597681.4:p.Val14908Phe
NR_038271.1:n.596+3342C>A (TTN-AS1)
NR_038272.1:n.2044-7781C>A (TTN-AS1)
XM_011511729.1:c.70438G>T (TTN)	XP_011510031.1:p.Val23480Phe
XM_011511730.1:c.44332G>T (TTN)	XP_011510032.1:p.Val14778Phe
XM_011511731.1:c.44191G>T (TTN)	XP_011510033.1:p.Val14731Phe
XM_017004819.1:c.70234G>T (TTN)	XP_016860308.1:p.Val23412Phe
XM_017004820.1:c.65632G>T (TTN)	XP_016860309.1:p.Val21878Phe
XM_017004821.1:c.65629G>T (TTN)	XP_016860310.1:p.Val21877Phe
XM_017004822.1:c.62671G>T (TTN)	XP_016860311.1:p.Val20891Phe
XM_017004823.1:c.44287G>T (TTN)	XP_016860312.1:p.Val14763Phe
XM_024453094.1:c.65782G>T (TTN)	XP_024308862.1:p.Val21928Phe
XM_024453095.1:c.65779G>T (TTN)	XP_024308863.1:p.Val21927Phe
XM_024453096.1:c.65212G>T (TTN)	XP_024308864.1:p.Val21738Phe
XM_024453097.1:c.62554G>T (TTN)	XP_024308865.1:p.Val20852Phe
XM_024453098.1:c.62473G>T (TTN)	XP_024308866.1:p.Val20825Phe
XM_024453099.1:c.44236G>T (TTN)	XP_024308867.1:p.Val14746Phe
XM_024453100.1:c.34090G>T (TTN)	XP_024308868.1:p.Val11364Phe