Canonical Allele Identifier: CA349555511

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179469744C>A (hg19) ; chr2:g.178605017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178605017C>A , CM000664.2:g.178605017C>A	GRCh38
NC_000002.11:g.179469744C>A , CM000664.1:g.179469744C>A	GRCh37
NC_000002.10:g.179177989C>A	NCBI36
NG_011618.3:g.230786G>T , LRG_391:g.230786G>T
NG_051363.1:g.87191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.46456G>T (TTN)	ENSP00000343764.6:p.Val15486Leu
ENST00000342175.11:c.27541G>T (TTN)	ENSP00000340554.6:p.Val9181Leu
ENST00000359218.10:c.27340G>T (TTN)	ENSP00000352154.5:p.Val9114Leu
ENST00000342175.10:c.27541G>T (TTN)	ENSP00000340554.6:p.Val9181Leu
ENST00000342992.10:c.46456G>T (TTN)	ENSP00000343764.6:p.Val15486Leu
ENST00000359218.9:c.27340G>T (TTN)	ENSP00000352154.5:p.Val9114Leu
ENST00000460472.6:c.26965G>T (TTN)	ENSP00000434586.1:p.Val8989Leu
ENST00000589042.5:c.54160G>T (TTN) MANE Select	ENSP00000467141.1:p.Val18054Leu
ENST00000591111.5:c.49237G>T (TTN)	ENSP00000465570.1:p.Val16413Leu
ENST00000615779.4:c.49237G>T (TTN)	ENSP00000483597.1:p.Val16413Leu
NM_001256850.1:c.49237G>T (TTN)	NP_001243779.1:p.Val16413Leu
NM_001267550.2:c.54160G>T (TTN) MANE Select	NP_001254479.2:p.Val18054Leu
NM_003319.4:c.26965G>T (TTN)	NP_003310.4:p.Val8989Leu
NM_133378.4:c.46456G>T (TTN)	NP_596869.4:p.Val15486Leu
NM_133432.3:c.27340G>T (TTN)	NP_597676.3:p.Val9114Leu
NM_133437.4:c.27541G>T (TTN)	NP_597681.4:p.Val9181Leu
NR_038271.1:n.683-3150C>A (TTN-AS1)
NR_038272.1:n.4204C>A (TTN-AS1)
XM_011511729.1:c.53257G>T (TTN)	XP_011510031.1:p.Val17753Leu
XM_011511730.1:c.27151G>T (TTN)	XP_011510032.1:p.Val9051Leu
XM_011511731.1:c.27010G>T (TTN)	XP_011510033.1:p.Val9004Leu
XM_017004819.1:c.53053G>T (TTN)	XP_016860308.1:p.Val17685Leu
XM_017004820.1:c.48451G>T (TTN)	XP_016860309.1:p.Val16151Leu
XM_017004821.1:c.48448G>T (TTN)	XP_016860310.1:p.Val16150Leu
XM_017004822.1:c.45490G>T (TTN)	XP_016860311.1:p.Val15164Leu
XM_017004823.1:c.27106G>T (TTN)	XP_016860312.1:p.Val9036Leu
XM_024453094.1:c.48601G>T (TTN)	XP_024308862.1:p.Val16201Leu
XM_024453095.1:c.48598G>T (TTN)	XP_024308863.1:p.Val16200Leu
XM_024453096.1:c.48031G>T (TTN)	XP_024308864.1:p.Val16011Leu
XM_024453097.1:c.45373G>T (TTN)	XP_024308865.1:p.Val15125Leu
XM_024453098.1:c.45292G>T (TTN)	XP_024308866.1:p.Val15098Leu
XM_024453099.1:c.27055G>T (TTN)	XP_024308867.1:p.Val9019Leu
XM_024453100.1:c.16909G>T (TTN)	XP_024308868.1:p.Val5637Leu