Canonical Allele Identifier: CA349455229

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544237C>A , CM000664.2:g.178544237C>A	GRCh38
NC_000002.11:g.179408964C>A , CM000664.1:g.179408964C>A	GRCh37
NC_000002.10:g.179117210C>A	NCBI36
NG_011618.3:g.291566G>T , LRG_391:g.291566G>T
NG_051363.1:g.26411C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.95992G>T (TTN) MANE Select	NP_001254479.2:p.Glu31998Ter
ENST00000589042.5:c.95992G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31998Ter
NM_001256850.1:c.91069G>T (TTN)	NP_001243779.1:p.Glu30357Ter
NM_003319.4:c.68797G>T (TTN)	NP_003310.4:p.Glu22933Ter
NM_133378.4:c.88288G>T (TTN)	NP_596869.4:p.Glu29430Ter
NM_133432.3:c.69172G>T (TTN)	NP_597676.3:p.Glu23058Ter
NM_133437.4:c.69373G>T (TTN)	NP_597681.4:p.Glu23125Ter
NR_038271.1:n.446+20601C>A (TTN-AS1)
NR_038272.1:n.2043+1876C>A (TTN-AS1)
ENST00000342175.10:c.69373G>T (TTN)	ENSP00000340554.6:p.Glu23125Ter
ENST00000342175.11:c.69373G>T (TTN)	ENSP00000340554.6:p.Glu23125Ter
ENST00000342992.10:c.88288G>T (TTN)	ENSP00000343764.6:p.Glu29430Ter
ENST00000342992.11:c.88288G>T (TTN)	ENSP00000343764.6:p.Glu29430Ter
ENST00000359218.10:c.69172G>T (TTN)	ENSP00000352154.5:p.Glu23058Ter
ENST00000359218.9:c.69172G>T (TTN)	ENSP00000352154.5:p.Glu23058Ter
ENST00000460472.6:c.68797G>T (TTN)	ENSP00000434586.1:p.Glu22933Ter
ENST00000591111.5:c.91069G>T (TTN)	ENSP00000465570.1:p.Glu30357Ter
ENST00000615779.4:c.91069G>T (TTN)	ENSP00000483597.1:p.Glu30357Ter
XM_011511729.1:c.95089G>T (TTN)	XP_011510031.1:p.Glu31697Ter
XM_011511730.1:c.68983G>T (TTN)	XP_011510032.1:p.Glu22995Ter
XM_011511731.1:c.68842G>T (TTN)	XP_011510033.1:p.Glu22948Ter
XM_017004819.1:c.94885G>T (TTN)	XP_016860308.1:p.Glu31629Ter
XM_017004820.1:c.90283G>T (TTN)	XP_016860309.1:p.Glu30095Ter
XM_017004821.1:c.90280G>T (TTN)	XP_016860310.1:p.Glu30094Ter
XM_017004822.1:c.87322G>T (TTN)	XP_016860311.1:p.Glu29108Ter
XM_017004823.1:c.68938G>T (TTN)	XP_016860312.1:p.Glu22980Ter
XM_024453094.1:c.90433G>T (TTN)	XP_024308862.1:p.Glu30145Ter
XM_024453095.1:c.90430G>T (TTN)	XP_024308863.1:p.Glu30144Ter
XM_024453096.1:c.89863G>T (TTN)	XP_024308864.1:p.Glu29955Ter
XM_024453097.1:c.87205G>T (TTN)	XP_024308865.1:p.Glu29069Ter
XM_024453098.1:c.87124G>T (TTN)	XP_024308866.1:p.Glu29042Ter
XM_024453099.1:c.68887G>T (TTN)	XP_024308867.1:p.Glu22963Ter
XM_024453100.1:c.58741G>T (TTN)	XP_024308868.1:p.Glu19581Ter