Canonical Allele Identifier: CA349547007

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602546T>A , CM000664.2:g.178602546T>A	GRCh38
NC_000002.11:g.179467273T>A , CM000664.1:g.179467273T>A	GRCh37
NC_000002.10:g.179175518T>A	NCBI36
NG_011618.3:g.233257A>T , LRG_391:g.233257A>T
NG_051363.1:g.84720T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.54856A>T (TTN) MANE Select	NP_001254479.2:p.Lys18286Ter
ENST00000589042.5:c.54856A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys18286Ter
NM_001256850.1:c.49933A>T (TTN)	NP_001243779.1:p.Lys16645Ter
NM_003319.4:c.27661A>T (TTN)	NP_003310.4:p.Lys9221Ter
NM_133378.4:c.47152A>T (TTN)	NP_596869.4:p.Lys15718Ter
NM_133432.3:c.28036A>T (TTN)	NP_597676.3:p.Lys9346Ter
NM_133437.4:c.28237A>T (TTN)	NP_597681.4:p.Lys9413Ter
NR_038271.1:n.682+4865T>A (TTN-AS1)
NR_038272.1:n.3917+1879T>A (TTN-AS1)
ENST00000342175.10:c.28237A>T (TTN)	ENSP00000340554.6:p.Lys9413Ter
ENST00000342175.11:c.28237A>T (TTN)	ENSP00000340554.6:p.Lys9413Ter
ENST00000342992.10:c.47152A>T (TTN)	ENSP00000343764.6:p.Lys15718Ter
ENST00000342992.11:c.47152A>T (TTN)	ENSP00000343764.6:p.Lys15718Ter
ENST00000359218.10:c.28036A>T (TTN)	ENSP00000352154.5:p.Lys9346Ter
ENST00000359218.9:c.28036A>T (TTN)	ENSP00000352154.5:p.Lys9346Ter
ENST00000460472.6:c.27661A>T (TTN)	ENSP00000434586.1:p.Lys9221Ter
ENST00000591111.5:c.49933A>T (TTN)	ENSP00000465570.1:p.Lys16645Ter
ENST00000615779.4:c.49933A>T (TTN)	ENSP00000483597.1:p.Lys16645Ter
XM_011511729.1:c.53953A>T (TTN)	XP_011510031.1:p.Lys17985Ter
XM_011511730.1:c.27847A>T (TTN)	XP_011510032.1:p.Lys9283Ter
XM_011511731.1:c.27706A>T (TTN)	XP_011510033.1:p.Lys9236Ter
XM_017004819.1:c.53749A>T (TTN)	XP_016860308.1:p.Lys17917Ter
XM_017004820.1:c.49147A>T (TTN)	XP_016860309.1:p.Lys16383Ter
XM_017004821.1:c.49144A>T (TTN)	XP_016860310.1:p.Lys16382Ter
XM_017004822.1:c.46186A>T (TTN)	XP_016860311.1:p.Lys15396Ter
XM_017004823.1:c.27802A>T (TTN)	XP_016860312.1:p.Lys9268Ter
XM_024453094.1:c.49297A>T (TTN)	XP_024308862.1:p.Lys16433Ter
XM_024453095.1:c.49294A>T (TTN)	XP_024308863.1:p.Lys16432Ter
XM_024453096.1:c.48727A>T (TTN)	XP_024308864.1:p.Lys16243Ter
XM_024453097.1:c.46069A>T (TTN)	XP_024308865.1:p.Lys15357Ter
XM_024453098.1:c.45988A>T (TTN)	XP_024308866.1:p.Lys15330Ter
XM_024453099.1:c.27751A>T (TTN)	XP_024308867.1:p.Lys9251Ter
XM_024453100.1:c.17605A>T (TTN)	XP_024308868.1:p.Lys5869Ter