Canonical Allele Identifier: CA60966163

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178649342A>C , CM000664.2:g.178649342A>C	GRCh38
NC_000002.11:g.179514069A>C , CM000664.1:g.179514069A>C	GRCh37
NC_000002.10:g.179222314A>C	NCBI36
NG_011618.3:g.186461T>G , LRG_391:g.186461T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.39974-11T>G MANE Select	NP_001254479.2:n.39974-11T>G
ENST00000589042.5:c.39974-11T>G MANE Select	ENSP00000467141.1:n.39974-11T>G
NM_001256850.1:c.35374+475T>G	NP_001243779.1:n.35374+475T>G
NM_003319.4:c.13283-7025T>G	NP_003310.4:n.13283-7025T>G
NM_133378.4:c.32593+475T>G	NP_596869.4:n.32593+475T>G
NM_133432.3:c.13658-7025T>G	NP_597676.3:n.13658-7025T>G
NM_133437.4:c.13859-7025T>G	NP_597681.4:n.13859-7025T>G
ENST00000342175.10:c.13859-7025T>G	ENSP00000340554.6:n.13859-7025T>G
ENST00000342175.11:c.13859-7025T>G	ENSP00000340554.6:n.13859-7025T>G
ENST00000342992.10:c.32593+475T>G	ENSP00000343764.6:n.32593+475T>G
ENST00000342992.11:c.32593+475T>G	ENSP00000343764.6:n.32593+475T>G
ENST00000359218.10:c.13658-7025T>G	ENSP00000352154.5:n.13658-7025T>G
ENST00000359218.9:c.13658-7025T>G	ENSP00000352154.5:n.13658-7025T>G
ENST00000414766.5:c.2441-7025T>G	ENSP00000401501.1:n.2441-7025T>G
ENST00000426232.5:c.416+475T>G
ENST00000446966.1:c.491-11T>G	ENSP00000408004.1:n.491-11T>G
ENST00000460472.6:c.13283-7025T>G	ENSP00000434586.1:n.13283-7025T>G
ENST00000591111.5:c.35374+475T>G	ENSP00000465570.1:n.35374+475T>G
ENST00000615779.4:c.35374+475T>G	ENSP00000483597.1:n.35374+475T>G
XM_011511729.1:c.39071-11T>G	XP_011510031.1:n.39071-11T>G
XM_011511730.1:c.13469-7025T>G	XP_011510032.1:n.13469-7025T>G
XM_011511731.1:c.13328-7025T>G	XP_011510033.1:n.13328-7025T>G
XM_017004819.1:c.38867-11T>G	XP_016860308.1:n.38867-11T>G
XM_017004820.1:c.34265-11T>G	XP_016860309.1:n.34265-11T>G
XM_017004821.1:c.34262-11T>G	XP_016860310.1:n.34262-11T>G
XM_017004822.1:c.31859-7025T>G	XP_016860311.1:n.31859-7025T>G
XM_017004823.1:c.13424-7025T>G	XP_016860312.1:n.13424-7025T>G
XM_024453094.1:c.34415-11T>G	XP_024308862.1:n.34415-11T>G
XM_024453095.1:c.34412-11T>G	XP_024308863.1:n.34412-11T>G
XM_024453096.1:c.33845-11T>G	XP_024308864.1:n.33845-11T>G
XM_024453097.1:c.31691-7025T>G	XP_024308865.1:n.31691-7025T>G
XM_024453098.1:c.31610-7025T>G	XP_024308866.1:n.31610-7025T>G
XM_024453099.1:c.13424-7025T>G	XP_024308867.1:n.13424-7025T>G
XM_024453100.1:c.2723-11T>G	XP_024308868.1:n.2723-11T>G