Canonical Allele Identifier: CA349662073

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178637368C>T , CM000664.2:g.178637368C>T	GRCh38
NC_000002.11:g.179502095C>T , CM000664.1:g.179502095C>T	GRCh37
NC_000002.10:g.179210340C>T	NCBI36
NG_011618.3:g.198435G>A , LRG_391:g.198435G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.40927+1G>A MANE Select	NP_001254479.2:n.40927+1G>A
ENST00000589042.5:c.40927+1G>A MANE Select	ENSP00000467141.1:n.40927+1G>A
NM_001256850.1:c.36004+1G>A	NP_001243779.1:n.36004+1G>A
NM_003319.4:c.13732+1G>A	NP_003310.4:n.13732+1G>A
NM_133378.4:c.33223+1G>A	NP_596869.4:n.33223+1G>A
NM_133432.3:c.14107+1G>A	NP_597676.3:n.14107+1G>A
NM_133437.4:c.14308+1G>A	NP_597681.4:n.14308+1G>A
ENST00000342175.10:c.14308+1G>A	ENSP00000340554.6:n.14308+1G>A
ENST00000342175.11:c.14308+1G>A	ENSP00000340554.6:n.14308+1G>A
ENST00000342992.10:c.33223+1G>A	ENSP00000343764.6:n.33223+1G>A
ENST00000342992.11:c.33223+1G>A	ENSP00000343764.6:n.33223+1G>A
ENST00000359218.10:c.14107+1G>A	ENSP00000352154.5:n.14107+1G>A
ENST00000359218.9:c.14107+1G>A	ENSP00000352154.5:n.14107+1G>A
ENST00000414766.5:c.2840-569G>A	ENSP00000401501.1:n.2840-569G>A
ENST00000460472.6:c.13732+1G>A	ENSP00000434586.1:n.13732+1G>A
ENST00000591111.5:c.36004+1G>A	ENSP00000465570.1:n.36004+1G>A
ENST00000615779.4:c.36004+1G>A	ENSP00000483597.1:n.36004+1G>A
XM_011511729.1:c.40024+1G>A	XP_011510031.1:n.40024+1G>A
XM_011511730.1:c.13918+1G>A	XP_011510032.1:n.13918+1G>A
XM_011511731.1:c.13777+1G>A	XP_011510033.1:n.13777+1G>A
XM_017004819.1:c.39820+1G>A	XP_016860308.1:n.39820+1G>A
XM_017004820.1:c.35218+1G>A	XP_016860309.1:n.35218+1G>A
XM_017004821.1:c.35215+1G>A	XP_016860310.1:n.35215+1G>A
XM_017004822.1:c.32258-569G>A	XP_016860311.1:n.32258-569G>A
XM_017004823.1:c.13873+1G>A	XP_016860312.1:n.13873+1G>A
XM_024453094.1:c.35368+1G>A	XP_024308862.1:n.35368+1G>A
XM_024453095.1:c.35365+1G>A	XP_024308863.1:n.35365+1G>A
XM_024453096.1:c.34798+1G>A	XP_024308864.1:n.34798+1G>A
XM_024453097.1:c.32140+1G>A	XP_024308865.1:n.32140+1G>A
XM_024453098.1:c.32059+1G>A	XP_024308866.1:n.32059+1G>A
XM_024453099.1:c.13823-569G>A	XP_024308867.1:n.13823-569G>A
XM_024453100.1:c.3676+1G>A	XP_024308868.1:n.3676+1G>A