Canonical Allele Identifier: CA349428221

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537714G>A , CM000664.2:g.178537714G>A	GRCh38
NC_000002.11:g.179402441G>A , CM000664.1:g.179402441G>A	GRCh37
NC_000002.10:g.179110687G>A	NCBI36
NG_011618.3:g.298089C>T , LRG_391:g.298089C>T
NG_051363.1:g.19888G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.99493C>T (TTN) MANE Select	NP_001254479.2:p.Gln33165Ter
ENST00000589042.5:c.99493C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln33165Ter
NM_001256850.1:c.94570C>T (TTN)	NP_001243779.1:p.Gln31524Ter
NM_003319.4:c.72298C>T (TTN)	NP_003310.4:p.Gln24100Ter
NM_133378.4:c.91789C>T (TTN)	NP_596869.4:p.Gln30597Ter
NM_133432.3:c.72673C>T (TTN)	NP_597676.3:p.Gln24225Ter
NM_133437.4:c.72874C>T (TTN)	NP_597681.4:p.Gln24292Ter
NR_038271.1:n.446+14078G>A (TTN-AS1)
NR_038272.1:n.647+23G>A (TTN-AS1)
ENST00000342175.10:c.72874C>T (TTN)	ENSP00000340554.6:p.Gln24292Ter
ENST00000342175.11:c.72874C>T (TTN)	ENSP00000340554.6:p.Gln24292Ter
ENST00000342992.10:c.91789C>T (TTN)	ENSP00000343764.6:p.Gln30597Ter
ENST00000342992.11:c.91789C>T (TTN)	ENSP00000343764.6:p.Gln30597Ter
ENST00000359218.10:c.72673C>T (TTN)	ENSP00000352154.5:p.Gln24225Ter
ENST00000359218.9:c.72673C>T (TTN)	ENSP00000352154.5:p.Gln24225Ter
ENST00000460472.6:c.72298C>T (TTN)	ENSP00000434586.1:p.Gln24100Ter
ENST00000591111.5:c.94570C>T (TTN)	ENSP00000465570.1:p.Gln31524Ter
ENST00000615779.4:c.94570C>T (TTN)	ENSP00000483597.1:p.Gln31524Ter
XM_011511729.1:c.98590C>T (TTN)	XP_011510031.1:p.Gln32864Ter
XM_011511730.1:c.72484C>T (TTN)	XP_011510032.1:p.Gln24162Ter
XM_011511731.1:c.72343C>T (TTN)	XP_011510033.1:p.Gln24115Ter
XM_017004819.1:c.98386C>T (TTN)	XP_016860308.1:p.Gln32796Ter
XM_017004820.1:c.93784C>T (TTN)	XP_016860309.1:p.Gln31262Ter
XM_017004821.1:c.93781C>T (TTN)	XP_016860310.1:p.Gln31261Ter
XM_017004822.1:c.90823C>T (TTN)	XP_016860311.1:p.Gln30275Ter
XM_017004823.1:c.72439C>T (TTN)	XP_016860312.1:p.Gln24147Ter
XM_024453094.1:c.93934C>T (TTN)	XP_024308862.1:p.Gln31312Ter
XM_024453095.1:c.93931C>T (TTN)	XP_024308863.1:p.Gln31311Ter
XM_024453096.1:c.93364C>T (TTN)	XP_024308864.1:p.Gln31122Ter
XM_024453097.1:c.90706C>T (TTN)	XP_024308865.1:p.Gln30236Ter
XM_024453098.1:c.90625C>T (TTN)	XP_024308866.1:p.Gln30209Ter
XM_024453099.1:c.72388C>T (TTN)	XP_024308867.1:p.Gln24130Ter
XM_024453100.1:c.62242C>T (TTN)	XP_024308868.1:p.Gln20748Ter