Canonical Allele Identifier: CA349494239

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457516A>T (hg19) ; chr2:g.178592789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592789A>T , CM000664.2:g.178592789A>T	GRCh38
NC_000002.11:g.179457516A>T , CM000664.1:g.179457516A>T	GRCh37
NC_000002.10:g.179165762A>T	NCBI36
NG_011618.3:g.243014T>A , LRG_391:g.243014T>A
NG_051363.1:g.74963A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51626T>A (TTN)	ENSP00000343764.6:p.Val17209Glu
ENST00000342175.11:c.32711T>A (TTN)	ENSP00000340554.6:p.Val10904Glu
ENST00000359218.10:c.32510T>A (TTN)	ENSP00000352154.5:p.Val10837Glu
ENST00000342175.10:c.32711T>A (TTN)	ENSP00000340554.6:p.Val10904Glu
ENST00000342992.10:c.51626T>A (TTN)	ENSP00000343764.6:p.Val17209Glu
ENST00000359218.9:c.32510T>A (TTN)	ENSP00000352154.5:p.Val10837Glu
ENST00000460472.6:c.32135T>A (TTN)	ENSP00000434586.1:p.Val10712Glu
ENST00000589042.5:c.59330T>A (TTN) MANE Select	ENSP00000467141.1:p.Val19777Glu
ENST00000591111.5:c.54407T>A (TTN)	ENSP00000465570.1:p.Val18136Glu
ENST00000615779.4:c.54407T>A (TTN)	ENSP00000483597.1:p.Val18136Glu
NM_001256850.1:c.54407T>A (TTN)	NP_001243779.1:p.Val18136Glu
NM_001267550.2:c.59330T>A (TTN) MANE Select	NP_001254479.2:p.Val19777Glu
NM_003319.4:c.32135T>A (TTN)	NP_003310.4:p.Val10712Glu
NM_133378.4:c.51626T>A (TTN)	NP_596869.4:p.Val17209Glu
NM_133432.3:c.32510T>A (TTN)	NP_597676.3:p.Val10837Glu
NM_133437.4:c.32711T>A (TTN)	NP_597681.4:p.Val10904Glu
NR_038271.1:n.597-4807A>T (TTN-AS1)
NR_038272.1:n.3364+1475A>T (TTN-AS1)
XM_011511729.1:c.58427T>A (TTN)	XP_011510031.1:p.Val19476Glu
XM_011511730.1:c.32321T>A (TTN)	XP_011510032.1:p.Val10774Glu
XM_011511731.1:c.32180T>A (TTN)	XP_011510033.1:p.Val10727Glu
XM_017004819.1:c.58223T>A (TTN)	XP_016860308.1:p.Val19408Glu
XM_017004820.1:c.53621T>A (TTN)	XP_016860309.1:p.Val17874Glu
XM_017004821.1:c.53618T>A (TTN)	XP_016860310.1:p.Val17873Glu
XM_017004822.1:c.50660T>A (TTN)	XP_016860311.1:p.Val16887Glu
XM_017004823.1:c.32276T>A (TTN)	XP_016860312.1:p.Val10759Glu
XM_024453094.1:c.53771T>A (TTN)	XP_024308862.1:p.Val17924Glu
XM_024453095.1:c.53768T>A (TTN)	XP_024308863.1:p.Val17923Glu
XM_024453096.1:c.53201T>A (TTN)	XP_024308864.1:p.Val17734Glu
XM_024453097.1:c.50543T>A (TTN)	XP_024308865.1:p.Val16848Glu
XM_024453098.1:c.50462T>A (TTN)	XP_024308866.1:p.Val16821Glu
XM_024453099.1:c.32225T>A (TTN)	XP_024308867.1:p.Val10742Glu
XM_024453100.1:c.22079T>A (TTN)	XP_024308868.1:p.Val7360Glu