Canonical Allele Identifier: CA349536912

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601019C>A , CM000664.2:g.178601019C>A	GRCh38
NC_000002.11:g.179465746C>A , CM000664.1:g.179465746C>A	GRCh37
NC_000002.10:g.179173991C>A	NCBI36
NG_011618.3:g.234784G>T , LRG_391:g.234784G>T
NG_051363.1:g.83193C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55885G>T (TTN) MANE Select	NP_001254479.2:p.Glu18629Ter
ENST00000589042.5:c.55885G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu18629Ter
NM_001256850.1:c.50962G>T (TTN)	NP_001243779.1:p.Glu16988Ter
NM_003319.4:c.28690G>T (TTN)	NP_003310.4:p.Glu9564Ter
NM_133378.4:c.48181G>T (TTN)	NP_596869.4:p.Glu16061Ter
NM_133432.3:c.29065G>T (TTN)	NP_597676.3:p.Glu9689Ter
NM_133437.4:c.29266G>T (TTN)	NP_597681.4:p.Glu9756Ter
NR_038271.1:n.682+3338C>A (TTN-AS1)
NR_038272.1:n.3917+352C>A (TTN-AS1)
ENST00000342175.10:c.29266G>T (TTN)	ENSP00000340554.6:p.Glu9756Ter
ENST00000342175.11:c.29266G>T (TTN)	ENSP00000340554.6:p.Glu9756Ter
ENST00000342992.10:c.48181G>T (TTN)	ENSP00000343764.6:p.Glu16061Ter
ENST00000342992.11:c.48181G>T (TTN)	ENSP00000343764.6:p.Glu16061Ter
ENST00000359218.10:c.29065G>T (TTN)	ENSP00000352154.5:p.Glu9689Ter
ENST00000359218.9:c.29065G>T (TTN)	ENSP00000352154.5:p.Glu9689Ter
ENST00000460472.6:c.28690G>T (TTN)	ENSP00000434586.1:p.Glu9564Ter
ENST00000591111.5:c.50962G>T (TTN)	ENSP00000465570.1:p.Glu16988Ter
ENST00000615779.4:c.50962G>T (TTN)	ENSP00000483597.1:p.Glu16988Ter
XM_011511729.1:c.54982G>T (TTN)	XP_011510031.1:p.Glu18328Ter
XM_011511730.1:c.28876G>T (TTN)	XP_011510032.1:p.Glu9626Ter
XM_011511731.1:c.28735G>T (TTN)	XP_011510033.1:p.Glu9579Ter
XM_017004819.1:c.54778G>T (TTN)	XP_016860308.1:p.Glu18260Ter
XM_017004820.1:c.50176G>T (TTN)	XP_016860309.1:p.Glu16726Ter
XM_017004821.1:c.50173G>T (TTN)	XP_016860310.1:p.Glu16725Ter
XM_017004822.1:c.47215G>T (TTN)	XP_016860311.1:p.Glu15739Ter
XM_017004823.1:c.28831G>T (TTN)	XP_016860312.1:p.Glu9611Ter
XM_024453094.1:c.50326G>T (TTN)	XP_024308862.1:p.Glu16776Ter
XM_024453095.1:c.50323G>T (TTN)	XP_024308863.1:p.Glu16775Ter
XM_024453096.1:c.49756G>T (TTN)	XP_024308864.1:p.Glu16586Ter
XM_024453097.1:c.47098G>T (TTN)	XP_024308865.1:p.Glu15700Ter
XM_024453098.1:c.47017G>T (TTN)	XP_024308866.1:p.Glu15673Ter
XM_024453099.1:c.28780G>T (TTN)	XP_024308867.1:p.Glu9594Ter
XM_024453100.1:c.18634G>T (TTN)	XP_024308868.1:p.Glu6212Ter