Canonical Allele Identifier: CA349417062

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179398692T>A (hg19) ; chr2:g.178533965T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533965T>A , CM000664.2:g.178533965T>A	GRCh38
NC_000002.11:g.179398692T>A , CM000664.1:g.179398692T>A	GRCh37
NC_000002.10:g.179106938T>A	NCBI36
NG_011618.3:g.301838A>T , LRG_391:g.301838A>T
NG_051363.1:g.16139T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94946A>T (TTN)	ENSP00000343764.6:p.Glu31649Val
ENST00000342175.11:c.76031A>T (TTN)	ENSP00000340554.6:p.Glu25344Val
ENST00000359218.10:c.75830A>T (TTN)	ENSP00000352154.5:p.Glu25277Val
ENST00000342175.10:c.76031A>T (TTN)	ENSP00000340554.6:p.Glu25344Val
ENST00000342992.10:c.94946A>T (TTN)	ENSP00000343764.6:p.Glu31649Val
ENST00000359218.9:c.75830A>T (TTN)	ENSP00000352154.5:p.Glu25277Val
ENST00000460472.6:c.75455A>T (TTN)	ENSP00000434586.1:p.Glu25152Val
ENST00000589042.5:c.102650A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu34217Val
ENST00000591111.5:c.97727A>T (TTN)	ENSP00000465570.1:p.Glu32576Val
ENST00000615779.4:c.97727A>T (TTN)	ENSP00000483597.1:p.Glu32576Val
NM_001256850.1:c.97727A>T (TTN)	NP_001243779.1:p.Glu32576Val
NM_001267550.2:c.102650A>T (TTN) MANE Select	NP_001254479.2:p.Glu34217Val
NM_003319.4:c.75455A>T (TTN)	NP_003310.4:p.Glu25152Val
NM_133378.4:c.94946A>T (TTN)	NP_596869.4:p.Glu31649Val
NM_133432.3:c.75830A>T (TTN)	NP_597676.3:p.Glu25277Val
NM_133437.4:c.76031A>T (TTN)	NP_597681.4:p.Glu25344Val
NR_038271.1:n.446+10329T>A (TTN-AS1)
NR_038272.1:n.220-1767T>A (TTN-AS1)
XM_011511729.1:c.101747A>T (TTN)	XP_011510031.1:p.Glu33916Val
XM_011511730.1:c.75641A>T (TTN)	XP_011510032.1:p.Glu25214Val
XM_011511731.1:c.75500A>T (TTN)	XP_011510033.1:p.Glu25167Val
XM_017004819.1:c.101543A>T (TTN)	XP_016860308.1:p.Glu33848Val
XM_017004820.1:c.96941A>T (TTN)	XP_016860309.1:p.Glu32314Val
XM_017004821.1:c.96938A>T (TTN)	XP_016860310.1:p.Glu32313Val
XM_017004822.1:c.93980A>T (TTN)	XP_016860311.1:p.Glu31327Val
XM_017004823.1:c.75596A>T (TTN)	XP_016860312.1:p.Glu25199Val
XM_024453094.1:c.97091A>T (TTN)	XP_024308862.1:p.Glu32364Val
XM_024453095.1:c.97088A>T (TTN)	XP_024308863.1:p.Glu32363Val
XM_024453096.1:c.96521A>T (TTN)	XP_024308864.1:p.Glu32174Val
XM_024453097.1:c.93863A>T (TTN)	XP_024308865.1:p.Glu31288Val
XM_024453098.1:c.93782A>T (TTN)	XP_024308866.1:p.Glu31261Val
XM_024453099.1:c.75545A>T (TTN)	XP_024308867.1:p.Glu25182Val
XM_024453100.1:c.65399A>T (TTN)	XP_024308868.1:p.Glu21800Val