Canonical Allele Identifier: CA1998012

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178674347T>C , CM000664.2:g.178674347T>C	GRCh38
NC_000002.11:g.179539074T>C , CM000664.1:g.179539074T>C	GRCh37
NC_000002.10:g.179247319T>C	NCBI36
NG_011618.3:g.161456A>G , LRG_391:g.161456A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.34675A>G MANE Select	NP_001254479.2:p.Ile11559Val
ENST00000589042.5:c.34675A>G MANE Select	ENSP00000467141.1:p.Ile11559Val
NM_001256850.1:c.33553A>G	NP_001243779.1:p.Ile11185Val
NM_003319.4:c.13283-32030A>G	NP_003310.4:n.13283-32030A>G
NM_133378.4:c.30772A>G	NP_596869.4:p.Ile10258Val
NM_133432.3:c.13658-32030A>G	NP_597676.3:n.13658-32030A>G
NM_133437.4:c.13859-32030A>G	NP_597681.4:n.13859-32030A>G
ENST00000342175.10:c.13859-32030A>G	ENSP00000340554.6:n.13859-32030A>G
ENST00000342175.11:c.13859-32030A>G	ENSP00000340554.6:n.13859-32030A>G
ENST00000342992.10:c.30772A>G	ENSP00000343764.6:p.Ile10258Val
ENST00000342992.11:c.30772A>G	ENSP00000343764.6:p.Ile10258Val
ENST00000359218.10:c.13658-32030A>G	ENSP00000352154.5:n.13658-32030A>G
ENST00000359218.9:c.13658-32030A>G	ENSP00000352154.5:n.13658-32030A>G
ENST00000414766.5:c.2329A>G	ENSP00000401501.1:p.Ile777Val
ENST00000460472.6:c.13283-32030A>G	ENSP00000434586.1:n.13283-32030A>G
ENST00000591111.5:c.33553A>G	ENSP00000465570.1:p.Ile11185Val
ENST00000615779.4:c.33553A>G	ENSP00000483597.1:p.Ile11185Val
XM_011511729.1:c.33772A>G	XP_011510031.1:p.Ile11258Val
XM_011511730.1:c.13469-32030A>G	XP_011510032.1:n.13469-32030A>G
XM_011511731.1:c.13328-32030A>G	XP_011510033.1:n.13328-32030A>G
XM_017004819.1:c.33727A>G	XP_016860308.1:p.Ile11243Val
XM_017004820.1:c.30775A>G	XP_016860309.1:p.Ile10259Val
XM_017004821.1:c.30772A>G	XP_016860310.1:p.Ile10258Val
XM_017004822.1:c.31747A>G	XP_016860311.1:p.Ile10583Val
XM_017004823.1:c.13424-32030A>G	XP_016860312.1:n.13424-32030A>G
XM_024453094.1:c.33109A>G	XP_024308862.1:p.Ile11037Val
XM_024453095.1:c.33184A>G	XP_024308863.1:p.Ile11062Val
XM_024453096.1:c.32539A>G	XP_024308864.1:p.Ile10847Val
XM_024453097.1:c.31579A>G	XP_024308865.1:p.Ile10527Val
XM_024453098.1:c.31498A>G	XP_024308866.1:p.Ile10500Val
XM_024453099.1:c.13424-32030A>G	XP_024308867.1:n.13424-32030A>G