Canonical Allele Identifier: CA349650413

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574297C>T , CM000664.2:g.178574297C>T	GRCh38
NC_000002.11:g.179439024C>T , CM000664.1:g.179439024C>T	GRCh37
NC_000002.10:g.179147270C>T	NCBI36
NG_011618.3:g.261506G>A , LRG_391:g.261506G>A
NG_051363.1:g.56471C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.71835G>A (TTN) MANE Select	NP_001254479.2:p.Trp23945Ter
ENST00000589042.5:c.71835G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp23945Ter
NM_001256850.1:c.66912G>A (TTN)	NP_001243779.1:p.Trp22304Ter
NM_003319.4:c.44640G>A (TTN)	NP_003310.4:p.Trp14880Ter
NM_133378.4:c.64131G>A (TTN)	NP_596869.4:p.Trp21377Ter
NM_133432.3:c.45015G>A (TTN)	NP_597676.3:p.Trp15005Ter
NM_133437.4:c.45216G>A (TTN)	NP_597681.4:p.Trp15072Ter
NR_038271.1:n.596+2848C>T (TTN-AS1)
NR_038272.1:n.2044-8275C>T (TTN-AS1)
ENST00000342175.10:c.45216G>A (TTN)	ENSP00000340554.6:p.Trp15072Ter
ENST00000342175.11:c.45216G>A (TTN)	ENSP00000340554.6:p.Trp15072Ter
ENST00000342992.10:c.64131G>A (TTN)	ENSP00000343764.6:p.Trp21377Ter
ENST00000342992.11:c.64131G>A (TTN)	ENSP00000343764.6:p.Trp21377Ter
ENST00000359218.10:c.45015G>A (TTN)	ENSP00000352154.5:p.Trp15005Ter
ENST00000359218.9:c.45015G>A (TTN)	ENSP00000352154.5:p.Trp15005Ter
ENST00000460472.6:c.44640G>A (TTN)	ENSP00000434586.1:p.Trp14880Ter
ENST00000591111.5:c.66912G>A (TTN)	ENSP00000465570.1:p.Trp22304Ter
ENST00000615779.4:c.66912G>A (TTN)	ENSP00000483597.1:p.Trp22304Ter
XM_011511729.1:c.70932G>A (TTN)	XP_011510031.1:p.Trp23644Ter
XM_011511730.1:c.44826G>A (TTN)	XP_011510032.1:p.Trp14942Ter
XM_011511731.1:c.44685G>A (TTN)	XP_011510033.1:p.Trp14895Ter
XM_017004819.1:c.70728G>A (TTN)	XP_016860308.1:p.Trp23576Ter
XM_017004820.1:c.66126G>A (TTN)	XP_016860309.1:p.Trp22042Ter
XM_017004821.1:c.66123G>A (TTN)	XP_016860310.1:p.Trp22041Ter
XM_017004822.1:c.63165G>A (TTN)	XP_016860311.1:p.Trp21055Ter
XM_017004823.1:c.44781G>A (TTN)	XP_016860312.1:p.Trp14927Ter
XM_024453094.1:c.66276G>A (TTN)	XP_024308862.1:p.Trp22092Ter
XM_024453095.1:c.66273G>A (TTN)	XP_024308863.1:p.Trp22091Ter
XM_024453096.1:c.65706G>A (TTN)	XP_024308864.1:p.Trp21902Ter
XM_024453097.1:c.63048G>A (TTN)	XP_024308865.1:p.Trp21016Ter
XM_024453098.1:c.62967G>A (TTN)	XP_024308866.1:p.Trp20989Ter
XM_024453099.1:c.44730G>A (TTN)	XP_024308867.1:p.Trp14910Ter
XM_024453100.1:c.34584G>A (TTN)	XP_024308868.1:p.Trp11528Ter