Canonical Allele Identifier: CA309219

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178617872G>A , CM000664.2:g.178617872G>A	GRCh38
NC_000002.11:g.179482599G>A , CM000664.1:g.179482599G>A	GRCh37
NC_000002.10:g.179190844G>A	NCBI36
NG_011618.3:g.217931C>T , LRG_391:g.217931C>T
NG_051363.1:g.100046G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.47479C>T (TTN) MANE Select	NP_001254479.2:p.Gln15827Ter
ENST00000589042.5:c.47479C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln15827Ter
NM_001256850.1:c.42556C>T (TTN)	NP_001243779.1:p.Gln14186Ter
NM_003319.4:c.20284C>T (TTN)	NP_003310.4:p.Gln6762Ter
NM_133378.4:c.39775C>T (TTN)	NP_596869.4:p.Gln13259Ter
NM_133432.3:c.20659C>T (TTN)	NP_597676.3:p.Gln6887Ter
NM_133437.4:c.20860C>T (TTN)	NP_597681.4:p.Gln6954Ter
NR_038271.1:n.1605-1881G>A (TTN-AS1)
ENST00000342175.10:c.20860C>T (TTN)	ENSP00000340554.6:p.Gln6954Ter
ENST00000342175.11:c.20860C>T (TTN)	ENSP00000340554.6:p.Gln6954Ter
ENST00000342992.10:c.39775C>T (TTN)	ENSP00000343764.6:p.Gln13259Ter
ENST00000342992.11:c.39775C>T (TTN)	ENSP00000343764.6:p.Gln13259Ter
ENST00000359218.10:c.20659C>T (TTN)	ENSP00000352154.5:p.Gln6887Ter
ENST00000359218.9:c.20659C>T (TTN)	ENSP00000352154.5:p.Gln6887Ter
ENST00000460472.6:c.20284C>T (TTN)	ENSP00000434586.1:p.Gln6762Ter
ENST00000591111.5:c.42556C>T (TTN)	ENSP00000465570.1:p.Gln14186Ter
ENST00000615779.4:c.42556C>T (TTN)	ENSP00000483597.1:p.Gln14186Ter
XM_011511729.1:c.46576C>T (TTN)	XP_011510031.1:p.Gln15526Ter
XM_011511730.1:c.20470C>T (TTN)	XP_011510032.1:p.Gln6824Ter
XM_011511731.1:c.20329C>T (TTN)	XP_011510033.1:p.Gln6777Ter
XM_017004819.1:c.46372C>T (TTN)	XP_016860308.1:p.Gln15458Ter
XM_017004820.1:c.41770C>T (TTN)	XP_016860309.1:p.Gln13924Ter
XM_017004821.1:c.41767C>T (TTN)	XP_016860310.1:p.Gln13923Ter
XM_017004822.1:c.38809C>T (TTN)	XP_016860311.1:p.Gln12937Ter
XM_017004823.1:c.20425C>T (TTN)	XP_016860312.1:p.Gln6809Ter
XM_024453094.1:c.41920C>T (TTN)	XP_024308862.1:p.Gln13974Ter
XM_024453095.1:c.41917C>T (TTN)	XP_024308863.1:p.Gln13973Ter
XM_024453096.1:c.41350C>T (TTN)	XP_024308864.1:p.Gln13784Ter
XM_024453097.1:c.38692C>T (TTN)	XP_024308865.1:p.Gln12898Ter
XM_024453098.1:c.38611C>T (TTN)	XP_024308866.1:p.Gln12871Ter
XM_024453099.1:c.20374C>T (TTN)	XP_024308867.1:p.Gln6792Ter
XM_024453100.1:c.10228C>T (TTN)	XP_024308868.1:p.Gln3410Ter