Canonical Allele Identifier: CA349628602

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570984C>A , CM000664.2:g.178570984C>A	GRCh38
NC_000002.11:g.179435711C>A , CM000664.1:g.179435711C>A	GRCh37
NC_000002.10:g.179143957C>A	NCBI36
NG_011618.3:g.264819G>T , LRG_391:g.264819G>T
NG_051363.1:g.53158C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.75148G>T (TTN) MANE Select	NP_001254479.2:p.Glu25050Ter
ENST00000589042.5:c.75148G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25050Ter
NM_001256850.1:c.70225G>T (TTN)	NP_001243779.1:p.Glu23409Ter
NM_003319.4:c.47953G>T (TTN)	NP_003310.4:p.Glu15985Ter
NM_133378.4:c.67444G>T (TTN)	NP_596869.4:p.Glu22482Ter
NM_133432.3:c.48328G>T (TTN)	NP_597676.3:p.Glu16110Ter
NM_133437.4:c.48529G>T (TTN)	NP_597681.4:p.Glu16177Ter
NR_038271.1:n.447-316C>A (TTN-AS1)
NR_038272.1:n.2044-11588C>A (TTN-AS1)
ENST00000342175.10:c.48529G>T (TTN)	ENSP00000340554.6:p.Glu16177Ter
ENST00000342175.11:c.48529G>T (TTN)	ENSP00000340554.6:p.Glu16177Ter
ENST00000342992.10:c.67444G>T (TTN)	ENSP00000343764.6:p.Glu22482Ter
ENST00000342992.11:c.67444G>T (TTN)	ENSP00000343764.6:p.Glu22482Ter
ENST00000359218.10:c.48328G>T (TTN)	ENSP00000352154.5:p.Glu16110Ter
ENST00000359218.9:c.48328G>T (TTN)	ENSP00000352154.5:p.Glu16110Ter
ENST00000460472.6:c.47953G>T (TTN)	ENSP00000434586.1:p.Glu15985Ter
ENST00000591111.5:c.70225G>T (TTN)	ENSP00000465570.1:p.Glu23409Ter
ENST00000615779.4:c.70225G>T (TTN)	ENSP00000483597.1:p.Glu23409Ter
XM_011511729.1:c.74245G>T (TTN)	XP_011510031.1:p.Glu24749Ter
XM_011511730.1:c.48139G>T (TTN)	XP_011510032.1:p.Glu16047Ter
XM_011511731.1:c.47998G>T (TTN)	XP_011510033.1:p.Glu16000Ter
XM_017004819.1:c.74041G>T (TTN)	XP_016860308.1:p.Glu24681Ter
XM_017004820.1:c.69439G>T (TTN)	XP_016860309.1:p.Glu23147Ter
XM_017004821.1:c.69436G>T (TTN)	XP_016860310.1:p.Glu23146Ter
XM_017004822.1:c.66478G>T (TTN)	XP_016860311.1:p.Glu22160Ter
XM_017004823.1:c.48094G>T (TTN)	XP_016860312.1:p.Glu16032Ter
XM_024453094.1:c.69589G>T (TTN)	XP_024308862.1:p.Glu23197Ter
XM_024453095.1:c.69586G>T (TTN)	XP_024308863.1:p.Glu23196Ter
XM_024453096.1:c.69019G>T (TTN)	XP_024308864.1:p.Glu23007Ter
XM_024453097.1:c.66361G>T (TTN)	XP_024308865.1:p.Glu22121Ter
XM_024453098.1:c.66280G>T (TTN)	XP_024308866.1:p.Glu22094Ter
XM_024453099.1:c.48043G>T (TTN)	XP_024308867.1:p.Glu16015Ter
XM_024453100.1:c.37897G>T (TTN)	XP_024308868.1:p.Glu12633Ter