Canonical Allele Identifier: CA349445648

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543231T>A , CM000664.2:g.178543231T>A	GRCh38
NC_000002.11:g.179407958T>A , CM000664.1:g.179407958T>A	GRCh37
NC_000002.10:g.179116204T>A	NCBI36
NG_011618.3:g.292572A>T , LRG_391:g.292572A>T
NG_051363.1:g.25405T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.96742A>T (TTN) MANE Select	NP_001254479.2:p.Arg32248Ter
ENST00000589042.5:c.96742A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg32248Ter
NM_001256850.1:c.91819A>T (TTN)	NP_001243779.1:p.Arg30607Ter
NM_003319.4:c.69547A>T (TTN)	NP_003310.4:p.Arg23183Ter
NM_133378.4:c.89038A>T (TTN)	NP_596869.4:p.Arg29680Ter
NM_133432.3:c.69922A>T (TTN)	NP_597676.3:p.Arg23308Ter
NM_133437.4:c.70123A>T (TTN)	NP_597681.4:p.Arg23375Ter
NR_038271.1:n.446+19595T>A (TTN-AS1)
NR_038272.1:n.2043+870T>A (TTN-AS1)
ENST00000342175.10:c.70123A>T (TTN)	ENSP00000340554.6:p.Arg23375Ter
ENST00000342175.11:c.70123A>T (TTN)	ENSP00000340554.6:p.Arg23375Ter
ENST00000342992.10:c.89038A>T (TTN)	ENSP00000343764.6:p.Arg29680Ter
ENST00000342992.11:c.89038A>T (TTN)	ENSP00000343764.6:p.Arg29680Ter
ENST00000359218.10:c.69922A>T (TTN)	ENSP00000352154.5:p.Arg23308Ter
ENST00000359218.9:c.69922A>T (TTN)	ENSP00000352154.5:p.Arg23308Ter
ENST00000460472.6:c.69547A>T (TTN)	ENSP00000434586.1:p.Arg23183Ter
ENST00000591111.5:c.91819A>T (TTN)	ENSP00000465570.1:p.Arg30607Ter
ENST00000615779.4:c.91819A>T (TTN)	ENSP00000483597.1:p.Arg30607Ter
XM_011511729.1:c.95839A>T (TTN)	XP_011510031.1:p.Arg31947Ter
XM_011511730.1:c.69733A>T (TTN)	XP_011510032.1:p.Arg23245Ter
XM_011511731.1:c.69592A>T (TTN)	XP_011510033.1:p.Arg23198Ter
XM_017004819.1:c.95635A>T (TTN)	XP_016860308.1:p.Arg31879Ter
XM_017004820.1:c.91033A>T (TTN)	XP_016860309.1:p.Arg30345Ter
XM_017004821.1:c.91030A>T (TTN)	XP_016860310.1:p.Arg30344Ter
XM_017004822.1:c.88072A>T (TTN)	XP_016860311.1:p.Arg29358Ter
XM_017004823.1:c.69688A>T (TTN)	XP_016860312.1:p.Arg23230Ter
XM_024453094.1:c.91183A>T (TTN)	XP_024308862.1:p.Arg30395Ter
XM_024453095.1:c.91180A>T (TTN)	XP_024308863.1:p.Arg30394Ter
XM_024453096.1:c.90613A>T (TTN)	XP_024308864.1:p.Arg30205Ter
XM_024453097.1:c.87955A>T (TTN)	XP_024308865.1:p.Arg29319Ter
XM_024453098.1:c.87874A>T (TTN)	XP_024308866.1:p.Arg29292Ter
XM_024453099.1:c.69637A>T (TTN)	XP_024308867.1:p.Arg23213Ter
XM_024453100.1:c.59491A>T (TTN)	XP_024308868.1:p.Arg19831Ter