Canonical Allele Identifier: CA349514024

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552842C>A , CM000664.2:g.178552842C>A	GRCh38
NC_000002.11:g.179417569C>A , CM000664.1:g.179417569C>A	GRCh37
NC_000002.10:g.179125815C>A	NCBI36
NG_011618.3:g.282961G>T , LRG_391:g.282961G>T
NG_051363.1:g.35016C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.90058G>T (TTN) MANE Select	NP_001254479.2:p.Glu30020Ter
ENST00000589042.5:c.90058G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu30020Ter
NM_001256850.1:c.85135G>T (TTN)	NP_001243779.1:p.Glu28379Ter
NM_003319.4:c.62863G>T (TTN)	NP_003310.4:p.Glu20955Ter
NM_133378.4:c.82354G>T (TTN)	NP_596869.4:p.Glu27452Ter
NM_133432.3:c.63238G>T (TTN)	NP_597676.3:p.Glu21080Ter
NM_133437.4:c.63439G>T (TTN)	NP_597681.4:p.Glu21147Ter
NR_038271.1:n.447-18458C>A (TTN-AS1)
NR_038272.1:n.2043+10481C>A (TTN-AS1)
ENST00000342175.10:c.63439G>T (TTN)	ENSP00000340554.6:p.Glu21147Ter
ENST00000342175.11:c.63439G>T (TTN)	ENSP00000340554.6:p.Glu21147Ter
ENST00000342992.10:c.82354G>T (TTN)	ENSP00000343764.6:p.Glu27452Ter
ENST00000342992.11:c.82354G>T (TTN)	ENSP00000343764.6:p.Glu27452Ter
ENST00000359218.10:c.63238G>T (TTN)	ENSP00000352154.5:p.Glu21080Ter
ENST00000359218.9:c.63238G>T (TTN)	ENSP00000352154.5:p.Glu21080Ter
ENST00000460472.6:c.62863G>T (TTN)	ENSP00000434586.1:p.Glu20955Ter
ENST00000591111.5:c.85135G>T (TTN)	ENSP00000465570.1:p.Glu28379Ter
ENST00000615779.4:c.85135G>T (TTN)	ENSP00000483597.1:p.Glu28379Ter
XM_011511729.1:c.89155G>T (TTN)	XP_011510031.1:p.Glu29719Ter
XM_011511730.1:c.63049G>T (TTN)	XP_011510032.1:p.Glu21017Ter
XM_011511731.1:c.62908G>T (TTN)	XP_011510033.1:p.Glu20970Ter
XM_017004819.1:c.88951G>T (TTN)	XP_016860308.1:p.Glu29651Ter
XM_017004820.1:c.84349G>T (TTN)	XP_016860309.1:p.Glu28117Ter
XM_017004821.1:c.84346G>T (TTN)	XP_016860310.1:p.Glu28116Ter
XM_017004822.1:c.81388G>T (TTN)	XP_016860311.1:p.Glu27130Ter
XM_017004823.1:c.63004G>T (TTN)	XP_016860312.1:p.Glu21002Ter
XM_024453094.1:c.84499G>T (TTN)	XP_024308862.1:p.Glu28167Ter
XM_024453095.1:c.84496G>T (TTN)	XP_024308863.1:p.Glu28166Ter
XM_024453096.1:c.83929G>T (TTN)	XP_024308864.1:p.Glu27977Ter
XM_024453097.1:c.81271G>T (TTN)	XP_024308865.1:p.Glu27091Ter
XM_024453098.1:c.81190G>T (TTN)	XP_024308866.1:p.Glu27064Ter
XM_024453099.1:c.62953G>T (TTN)	XP_024308867.1:p.Glu20985Ter
XM_024453100.1:c.52807G>T (TTN)	XP_024308868.1:p.Glu17603Ter