Canonical Allele Identifier: CA349511214

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552512C>A , CM000664.2:g.178552512C>A	GRCh38
NC_000002.11:g.179417239C>A , CM000664.1:g.179417239C>A	GRCh37
NC_000002.10:g.179125485C>A	NCBI36
NG_011618.3:g.283291G>T , LRG_391:g.283291G>T
NG_051363.1:g.34686C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.90388G>T (TTN) MANE Select	NP_001254479.2:p.Glu30130Ter
ENST00000589042.5:c.90388G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu30130Ter
NM_001256850.1:c.85465G>T (TTN)	NP_001243779.1:p.Glu28489Ter
NM_003319.4:c.63193G>T (TTN)	NP_003310.4:p.Glu21065Ter
NM_133378.4:c.82684G>T (TTN)	NP_596869.4:p.Glu27562Ter
NM_133432.3:c.63568G>T (TTN)	NP_597676.3:p.Glu21190Ter
NM_133437.4:c.63769G>T (TTN)	NP_597681.4:p.Glu21257Ter
NR_038271.1:n.447-18788C>A (TTN-AS1)
NR_038272.1:n.2043+10151C>A (TTN-AS1)
ENST00000342175.10:c.63769G>T (TTN)	ENSP00000340554.6:p.Glu21257Ter
ENST00000342175.11:c.63769G>T (TTN)	ENSP00000340554.6:p.Glu21257Ter
ENST00000342992.10:c.82684G>T (TTN)	ENSP00000343764.6:p.Glu27562Ter
ENST00000342992.11:c.82684G>T (TTN)	ENSP00000343764.6:p.Glu27562Ter
ENST00000359218.10:c.63568G>T (TTN)	ENSP00000352154.5:p.Glu21190Ter
ENST00000359218.9:c.63568G>T (TTN)	ENSP00000352154.5:p.Glu21190Ter
ENST00000460472.6:c.63193G>T (TTN)	ENSP00000434586.1:p.Glu21065Ter
ENST00000591111.5:c.85465G>T (TTN)	ENSP00000465570.1:p.Glu28489Ter
ENST00000615779.4:c.85465G>T (TTN)	ENSP00000483597.1:p.Glu28489Ter
XM_011511729.1:c.89485G>T (TTN)	XP_011510031.1:p.Glu29829Ter
XM_011511730.1:c.63379G>T (TTN)	XP_011510032.1:p.Glu21127Ter
XM_011511731.1:c.63238G>T (TTN)	XP_011510033.1:p.Glu21080Ter
XM_017004819.1:c.89281G>T (TTN)	XP_016860308.1:p.Glu29761Ter
XM_017004820.1:c.84679G>T (TTN)	XP_016860309.1:p.Glu28227Ter
XM_017004821.1:c.84676G>T (TTN)	XP_016860310.1:p.Glu28226Ter
XM_017004822.1:c.81718G>T (TTN)	XP_016860311.1:p.Glu27240Ter
XM_017004823.1:c.63334G>T (TTN)	XP_016860312.1:p.Glu21112Ter
XM_024453094.1:c.84829G>T (TTN)	XP_024308862.1:p.Glu28277Ter
XM_024453095.1:c.84826G>T (TTN)	XP_024308863.1:p.Glu28276Ter
XM_024453096.1:c.84259G>T (TTN)	XP_024308864.1:p.Glu28087Ter
XM_024453097.1:c.81601G>T (TTN)	XP_024308865.1:p.Glu27201Ter
XM_024453098.1:c.81520G>T (TTN)	XP_024308866.1:p.Glu27174Ter
XM_024453099.1:c.63283G>T (TTN)	XP_024308867.1:p.Glu21095Ter
XM_024453100.1:c.53137G>T (TTN)	XP_024308868.1:p.Glu17713Ter