Canonical Allele Identifier: CA349584334

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609849C>A , CM000664.2:g.178609849C>A	GRCh38
NC_000002.11:g.179474576C>A , CM000664.1:g.179474576C>A	GRCh37
NC_000002.10:g.179182821C>A	NCBI36
NG_011618.3:g.225954G>T , LRG_391:g.225954G>T
NG_051363.1:g.92023C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51574G>T (TTN) MANE Select	NP_001254479.2:p.Glu17192Ter
ENST00000589042.5:c.51574G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17192Ter
NM_001256850.1:c.46651G>T (TTN)	NP_001243779.1:p.Glu15551Ter
NM_003319.4:c.24379G>T (TTN)	NP_003310.4:p.Glu8127Ter
NM_133378.4:c.43870G>T (TTN)	NP_596869.4:p.Glu14624Ter
NM_133432.3:c.24754G>T (TTN)	NP_597676.3:p.Glu8252Ter
NM_133437.4:c.24955G>T (TTN)	NP_597681.4:p.Glu8319Ter
NR_038271.1:n.782+1583C>A (TTN-AS1)
ENST00000342175.10:c.24955G>T (TTN)	ENSP00000340554.6:p.Glu8319Ter
ENST00000342175.11:c.24955G>T (TTN)	ENSP00000340554.6:p.Glu8319Ter
ENST00000342992.10:c.43870G>T (TTN)	ENSP00000343764.6:p.Glu14624Ter
ENST00000342992.11:c.43870G>T (TTN)	ENSP00000343764.6:p.Glu14624Ter
ENST00000359218.10:c.24754G>T (TTN)	ENSP00000352154.5:p.Glu8252Ter
ENST00000359218.9:c.24754G>T (TTN)	ENSP00000352154.5:p.Glu8252Ter
ENST00000460472.6:c.24379G>T (TTN)	ENSP00000434586.1:p.Glu8127Ter
ENST00000591111.5:c.46651G>T (TTN)	ENSP00000465570.1:p.Glu15551Ter
ENST00000615779.4:c.46651G>T (TTN)	ENSP00000483597.1:p.Glu15551Ter
XM_011511729.1:c.50671G>T (TTN)	XP_011510031.1:p.Glu16891Ter
XM_011511730.1:c.24565G>T (TTN)	XP_011510032.1:p.Glu8189Ter
XM_011511731.1:c.24424G>T (TTN)	XP_011510033.1:p.Glu8142Ter
XM_017004819.1:c.50467G>T (TTN)	XP_016860308.1:p.Glu16823Ter
XM_017004820.1:c.45865G>T (TTN)	XP_016860309.1:p.Glu15289Ter
XM_017004821.1:c.45862G>T (TTN)	XP_016860310.1:p.Glu15288Ter
XM_017004822.1:c.42904G>T (TTN)	XP_016860311.1:p.Glu14302Ter
XM_017004823.1:c.24520G>T (TTN)	XP_016860312.1:p.Glu8174Ter
XM_024453094.1:c.46015G>T (TTN)	XP_024308862.1:p.Glu15339Ter
XM_024453095.1:c.46012G>T (TTN)	XP_024308863.1:p.Glu15338Ter
XM_024453096.1:c.45445G>T (TTN)	XP_024308864.1:p.Glu15149Ter
XM_024453097.1:c.42787G>T (TTN)	XP_024308865.1:p.Glu14263Ter
XM_024453098.1:c.42706G>T (TTN)	XP_024308866.1:p.Glu14236Ter
XM_024453099.1:c.24469G>T (TTN)	XP_024308867.1:p.Glu8157Ter
XM_024453100.1:c.14323G>T (TTN)	XP_024308868.1:p.Glu4775Ter