Canonical Allele Identifier: CA349581109

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429236T>A (hg19) ; chr2:g.178564509T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564509T>A , CM000664.2:g.178564509T>A	GRCh38
NC_000002.11:g.179429236T>A , CM000664.1:g.179429236T>A	GRCh37
NC_000002.10:g.179137482T>A	NCBI36
NG_011618.3:g.271294A>T , LRG_391:g.271294A>T
NG_051363.1:g.46683T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73919A>T (TTN)	ENSP00000343764.6:p.Glu24640Val
ENST00000342175.11:c.55004A>T (TTN)	ENSP00000340554.6:p.Glu18335Val
ENST00000359218.10:c.54803A>T (TTN)	ENSP00000352154.5:p.Glu18268Val
ENST00000342175.10:c.55004A>T (TTN)	ENSP00000340554.6:p.Glu18335Val
ENST00000342992.10:c.73919A>T (TTN)	ENSP00000343764.6:p.Glu24640Val
ENST00000359218.9:c.54803A>T (TTN)	ENSP00000352154.5:p.Glu18268Val
ENST00000460472.6:c.54428A>T (TTN)	ENSP00000434586.1:p.Glu18143Val
ENST00000589042.5:c.81623A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu27208Val
ENST00000591111.5:c.76700A>T (TTN)	ENSP00000465570.1:p.Glu25567Val
ENST00000615779.4:c.76700A>T (TTN)	ENSP00000483597.1:p.Glu25567Val
NM_001256850.1:c.76700A>T (TTN)	NP_001243779.1:p.Glu25567Val
NM_001267550.2:c.81623A>T (TTN) MANE Select	NP_001254479.2:p.Glu27208Val
NM_003319.4:c.54428A>T (TTN)	NP_003310.4:p.Glu18143Val
NM_133378.4:c.73919A>T (TTN)	NP_596869.4:p.Glu24640Val
NM_133432.3:c.54803A>T (TTN)	NP_597676.3:p.Glu18268Val
NM_133437.4:c.55004A>T (TTN)	NP_597681.4:p.Glu18335Val
NR_038271.1:n.447-6791T>A (TTN-AS1)
NR_038272.1:n.2044-18063T>A (TTN-AS1)
XM_011511729.1:c.80720A>T (TTN)	XP_011510031.1:p.Glu26907Val
XM_011511730.1:c.54614A>T (TTN)	XP_011510032.1:p.Glu18205Val
XM_011511731.1:c.54473A>T (TTN)	XP_011510033.1:p.Glu18158Val
XM_017004819.1:c.80516A>T (TTN)	XP_016860308.1:p.Glu26839Val
XM_017004820.1:c.75914A>T (TTN)	XP_016860309.1:p.Glu25305Val
XM_017004821.1:c.75911A>T (TTN)	XP_016860310.1:p.Glu25304Val
XM_017004822.1:c.72953A>T (TTN)	XP_016860311.1:p.Glu24318Val
XM_017004823.1:c.54569A>T (TTN)	XP_016860312.1:p.Glu18190Val
XM_024453094.1:c.76064A>T (TTN)	XP_024308862.1:p.Glu25355Val
XM_024453095.1:c.76061A>T (TTN)	XP_024308863.1:p.Glu25354Val
XM_024453096.1:c.75494A>T (TTN)	XP_024308864.1:p.Glu25165Val
XM_024453097.1:c.72836A>T (TTN)	XP_024308865.1:p.Glu24279Val
XM_024453098.1:c.72755A>T (TTN)	XP_024308866.1:p.Glu24252Val
XM_024453099.1:c.54518A>T (TTN)	XP_024308867.1:p.Glu18173Val
XM_024453100.1:c.44372A>T (TTN)	XP_024308868.1:p.Glu14791Val