Canonical Allele Identifier: CA309280

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592652C>A , CM000664.2:g.178592652C>A	GRCh38
NC_000002.11:g.179457379C>A , CM000664.1:g.179457379C>A	GRCh37
NC_000002.10:g.179165625C>A	NCBI36
NG_011618.3:g.243151G>T , LRG_391:g.243151G>T
NG_051363.1:g.74826C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.59353G>T (TTN) MANE Select	NP_001254479.2:p.Glu19785Ter
ENST00000589042.5:c.59353G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu19785Ter
NM_001256850.1:c.54430G>T (TTN)	NP_001243779.1:p.Glu18144Ter
NM_003319.4:c.32158G>T (TTN)	NP_003310.4:p.Glu10720Ter
NM_133378.4:c.51649G>T (TTN)	NP_596869.4:p.Glu17217Ter
NM_133432.3:c.32533G>T (TTN)	NP_597676.3:p.Glu10845Ter
NM_133437.4:c.32734G>T (TTN)	NP_597681.4:p.Glu10912Ter
NR_038271.1:n.597-4944C>A (TTN-AS1)
NR_038272.1:n.3364+1338C>A (TTN-AS1)
ENST00000342175.10:c.32734G>T (TTN)	ENSP00000340554.6:p.Glu10912Ter
ENST00000342175.11:c.32734G>T (TTN)	ENSP00000340554.6:p.Glu10912Ter
ENST00000342992.10:c.51649G>T (TTN)	ENSP00000343764.6:p.Glu17217Ter
ENST00000342992.11:c.51649G>T (TTN)	ENSP00000343764.6:p.Glu17217Ter
ENST00000359218.10:c.32533G>T (TTN)	ENSP00000352154.5:p.Glu10845Ter
ENST00000359218.9:c.32533G>T (TTN)	ENSP00000352154.5:p.Glu10845Ter
ENST00000460472.6:c.32158G>T (TTN)	ENSP00000434586.1:p.Glu10720Ter
ENST00000591111.5:c.54430G>T (TTN)	ENSP00000465570.1:p.Glu18144Ter
ENST00000615779.4:c.54430G>T (TTN)	ENSP00000483597.1:p.Glu18144Ter
XM_011511729.1:c.58450G>T (TTN)	XP_011510031.1:p.Glu19484Ter
XM_011511730.1:c.32344G>T (TTN)	XP_011510032.1:p.Glu10782Ter
XM_011511731.1:c.32203G>T (TTN)	XP_011510033.1:p.Glu10735Ter
XM_017004819.1:c.58246G>T (TTN)	XP_016860308.1:p.Glu19416Ter
XM_017004820.1:c.53644G>T (TTN)	XP_016860309.1:p.Glu17882Ter
XM_017004821.1:c.53641G>T (TTN)	XP_016860310.1:p.Glu17881Ter
XM_017004822.1:c.50683G>T (TTN)	XP_016860311.1:p.Glu16895Ter
XM_017004823.1:c.32299G>T (TTN)	XP_016860312.1:p.Glu10767Ter
XM_024453094.1:c.53794G>T (TTN)	XP_024308862.1:p.Glu17932Ter
XM_024453095.1:c.53791G>T (TTN)	XP_024308863.1:p.Glu17931Ter
XM_024453096.1:c.53224G>T (TTN)	XP_024308864.1:p.Glu17742Ter
XM_024453097.1:c.50566G>T (TTN)	XP_024308865.1:p.Glu16856Ter
XM_024453098.1:c.50485G>T (TTN)	XP_024308866.1:p.Glu16829Ter
XM_024453099.1:c.32248G>T (TTN)	XP_024308867.1:p.Glu10750Ter
XM_024453100.1:c.22102G>T (TTN)	XP_024308868.1:p.Glu7368Ter