Canonical Allele Identifier: CA349619377

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570267C>A , CM000664.2:g.178570267C>A	GRCh38
NC_000002.11:g.179434994C>A , CM000664.1:g.179434994C>A	GRCh37
NC_000002.10:g.179143240C>A	NCBI36
NG_011618.3:g.265536G>T , LRG_391:g.265536G>T
NG_051363.1:g.52441C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.75865G>T (TTN) MANE Select	NP_001254479.2:p.Glu25289Ter
ENST00000589042.5:c.75865G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25289Ter
NM_001256850.1:c.70942G>T (TTN)	NP_001243779.1:p.Glu23648Ter
NM_003319.4:c.48670G>T (TTN)	NP_003310.4:p.Glu16224Ter
NM_133378.4:c.68161G>T (TTN)	NP_596869.4:p.Glu22721Ter
NM_133432.3:c.49045G>T (TTN)	NP_597676.3:p.Glu16349Ter
NM_133437.4:c.49246G>T (TTN)	NP_597681.4:p.Glu16416Ter
NR_038271.1:n.447-1033C>A (TTN-AS1)
NR_038272.1:n.2044-12305C>A (TTN-AS1)
ENST00000342175.10:c.49246G>T (TTN)	ENSP00000340554.6:p.Glu16416Ter
ENST00000342175.11:c.49246G>T (TTN)	ENSP00000340554.6:p.Glu16416Ter
ENST00000342992.10:c.68161G>T (TTN)	ENSP00000343764.6:p.Glu22721Ter
ENST00000342992.11:c.68161G>T (TTN)	ENSP00000343764.6:p.Glu22721Ter
ENST00000359218.10:c.49045G>T (TTN)	ENSP00000352154.5:p.Glu16349Ter
ENST00000359218.9:c.49045G>T (TTN)	ENSP00000352154.5:p.Glu16349Ter
ENST00000460472.6:c.48670G>T (TTN)	ENSP00000434586.1:p.Glu16224Ter
ENST00000591111.5:c.70942G>T (TTN)	ENSP00000465570.1:p.Glu23648Ter
ENST00000615779.4:c.70942G>T (TTN)	ENSP00000483597.1:p.Glu23648Ter
XM_011511729.1:c.74962G>T (TTN)	XP_011510031.1:p.Glu24988Ter
XM_011511730.1:c.48856G>T (TTN)	XP_011510032.1:p.Glu16286Ter
XM_011511731.1:c.48715G>T (TTN)	XP_011510033.1:p.Glu16239Ter
XM_017004819.1:c.74758G>T (TTN)	XP_016860308.1:p.Glu24920Ter
XM_017004820.1:c.70156G>T (TTN)	XP_016860309.1:p.Glu23386Ter
XM_017004821.1:c.70153G>T (TTN)	XP_016860310.1:p.Glu23385Ter
XM_017004822.1:c.67195G>T (TTN)	XP_016860311.1:p.Glu22399Ter
XM_017004823.1:c.48811G>T (TTN)	XP_016860312.1:p.Glu16271Ter
XM_024453094.1:c.70306G>T (TTN)	XP_024308862.1:p.Glu23436Ter
XM_024453095.1:c.70303G>T (TTN)	XP_024308863.1:p.Glu23435Ter
XM_024453096.1:c.69736G>T (TTN)	XP_024308864.1:p.Glu23246Ter
XM_024453097.1:c.67078G>T (TTN)	XP_024308865.1:p.Glu22360Ter
XM_024453098.1:c.66997G>T (TTN)	XP_024308866.1:p.Glu22333Ter
XM_024453099.1:c.48760G>T (TTN)	XP_024308867.1:p.Glu16254Ter
XM_024453100.1:c.38614G>T (TTN)	XP_024308868.1:p.Glu12872Ter