Canonical Allele Identifier: CA349544678

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602285G>A , CM000664.2:g.178602285G>A	GRCh38
NC_000002.11:g.179467012G>A , CM000664.1:g.179467012G>A	GRCh37
NC_000002.10:g.179175257G>A	NCBI36
NG_011618.3:g.233518C>T , LRG_391:g.233518C>T
NG_051363.1:g.84459G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55117C>T (TTN) MANE Select	NP_001254479.2:p.Gln18373Ter
ENST00000589042.5:c.55117C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln18373Ter
NM_001256850.1:c.50194C>T (TTN)	NP_001243779.1:p.Gln16732Ter
NM_003319.4:c.27922C>T (TTN)	NP_003310.4:p.Gln9308Ter
NM_133378.4:c.47413C>T (TTN)	NP_596869.4:p.Gln15805Ter
NM_133432.3:c.28297C>T (TTN)	NP_597676.3:p.Gln9433Ter
NM_133437.4:c.28498C>T (TTN)	NP_597681.4:p.Gln9500Ter
NR_038271.1:n.682+4604G>A (TTN-AS1)
NR_038272.1:n.3917+1618G>A (TTN-AS1)
ENST00000342175.10:c.28498C>T (TTN)	ENSP00000340554.6:p.Gln9500Ter
ENST00000342175.11:c.28498C>T (TTN)	ENSP00000340554.6:p.Gln9500Ter
ENST00000342992.10:c.47413C>T (TTN)	ENSP00000343764.6:p.Gln15805Ter
ENST00000342992.11:c.47413C>T (TTN)	ENSP00000343764.6:p.Gln15805Ter
ENST00000359218.10:c.28297C>T (TTN)	ENSP00000352154.5:p.Gln9433Ter
ENST00000359218.9:c.28297C>T (TTN)	ENSP00000352154.5:p.Gln9433Ter
ENST00000460472.6:c.27922C>T (TTN)	ENSP00000434586.1:p.Gln9308Ter
ENST00000591111.5:c.50194C>T (TTN)	ENSP00000465570.1:p.Gln16732Ter
ENST00000615779.4:c.50194C>T (TTN)	ENSP00000483597.1:p.Gln16732Ter
XM_011511729.1:c.54214C>T (TTN)	XP_011510031.1:p.Gln18072Ter
XM_011511730.1:c.28108C>T (TTN)	XP_011510032.1:p.Gln9370Ter
XM_011511731.1:c.27967C>T (TTN)	XP_011510033.1:p.Gln9323Ter
XM_017004819.1:c.54010C>T (TTN)	XP_016860308.1:p.Gln18004Ter
XM_017004820.1:c.49408C>T (TTN)	XP_016860309.1:p.Gln16470Ter
XM_017004821.1:c.49405C>T (TTN)	XP_016860310.1:p.Gln16469Ter
XM_017004822.1:c.46447C>T (TTN)	XP_016860311.1:p.Gln15483Ter
XM_017004823.1:c.28063C>T (TTN)	XP_016860312.1:p.Gln9355Ter
XM_024453094.1:c.49558C>T (TTN)	XP_024308862.1:p.Gln16520Ter
XM_024453095.1:c.49555C>T (TTN)	XP_024308863.1:p.Gln16519Ter
XM_024453096.1:c.48988C>T (TTN)	XP_024308864.1:p.Gln16330Ter
XM_024453097.1:c.46330C>T (TTN)	XP_024308865.1:p.Gln15444Ter
XM_024453098.1:c.46249C>T (TTN)	XP_024308866.1:p.Gln15417Ter
XM_024453099.1:c.28012C>T (TTN)	XP_024308867.1:p.Gln9338Ter
XM_024453100.1:c.17866C>T (TTN)	XP_024308868.1:p.Gln5956Ter