Canonical Allele Identifier: CA349628688

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570993C>A , CM000664.2:g.178570993C>A	GRCh38
NC_000002.11:g.179435720C>A , CM000664.1:g.179435720C>A	GRCh37
NC_000002.10:g.179143966C>A	NCBI36
NG_011618.3:g.264810G>T , LRG_391:g.264810G>T
NG_051363.1:g.53167C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.75139G>T (TTN) MANE Select	NP_001254479.2:p.Glu25047Ter
ENST00000589042.5:c.75139G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25047Ter
NM_001256850.1:c.70216G>T (TTN)	NP_001243779.1:p.Glu23406Ter
NM_003319.4:c.47944G>T (TTN)	NP_003310.4:p.Glu15982Ter
NM_133378.4:c.67435G>T (TTN)	NP_596869.4:p.Glu22479Ter
NM_133432.3:c.48319G>T (TTN)	NP_597676.3:p.Glu16107Ter
NM_133437.4:c.48520G>T (TTN)	NP_597681.4:p.Glu16174Ter
NR_038271.1:n.447-307C>A (TTN-AS1)
NR_038272.1:n.2044-11579C>A (TTN-AS1)
ENST00000342175.10:c.48520G>T (TTN)	ENSP00000340554.6:p.Glu16174Ter
ENST00000342175.11:c.48520G>T (TTN)	ENSP00000340554.6:p.Glu16174Ter
ENST00000342992.10:c.67435G>T (TTN)	ENSP00000343764.6:p.Glu22479Ter
ENST00000342992.11:c.67435G>T (TTN)	ENSP00000343764.6:p.Glu22479Ter
ENST00000359218.10:c.48319G>T (TTN)	ENSP00000352154.5:p.Glu16107Ter
ENST00000359218.9:c.48319G>T (TTN)	ENSP00000352154.5:p.Glu16107Ter
ENST00000460472.6:c.47944G>T (TTN)	ENSP00000434586.1:p.Glu15982Ter
ENST00000591111.5:c.70216G>T (TTN)	ENSP00000465570.1:p.Glu23406Ter
ENST00000615779.4:c.70216G>T (TTN)	ENSP00000483597.1:p.Glu23406Ter
XM_011511729.1:c.74236G>T (TTN)	XP_011510031.1:p.Glu24746Ter
XM_011511730.1:c.48130G>T (TTN)	XP_011510032.1:p.Glu16044Ter
XM_011511731.1:c.47989G>T (TTN)	XP_011510033.1:p.Glu15997Ter
XM_017004819.1:c.74032G>T (TTN)	XP_016860308.1:p.Glu24678Ter
XM_017004820.1:c.69430G>T (TTN)	XP_016860309.1:p.Glu23144Ter
XM_017004821.1:c.69427G>T (TTN)	XP_016860310.1:p.Glu23143Ter
XM_017004822.1:c.66469G>T (TTN)	XP_016860311.1:p.Glu22157Ter
XM_017004823.1:c.48085G>T (TTN)	XP_016860312.1:p.Glu16029Ter
XM_024453094.1:c.69580G>T (TTN)	XP_024308862.1:p.Glu23194Ter
XM_024453095.1:c.69577G>T (TTN)	XP_024308863.1:p.Glu23193Ter
XM_024453096.1:c.69010G>T (TTN)	XP_024308864.1:p.Glu23004Ter
XM_024453097.1:c.66352G>T (TTN)	XP_024308865.1:p.Glu22118Ter
XM_024453098.1:c.66271G>T (TTN)	XP_024308866.1:p.Glu22091Ter
XM_024453099.1:c.48034G>T (TTN)	XP_024308867.1:p.Glu16012Ter
XM_024453100.1:c.37888G>T (TTN)	XP_024308868.1:p.Glu12630Ter