Canonical Allele Identifier: CA349523320

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598055T>A , CM000664.2:g.178598055T>A	GRCh38
NC_000002.11:g.179462782T>A , CM000664.1:g.179462782T>A	GRCh37
NC_000002.10:g.179171027T>A	NCBI36
NG_011618.3:g.237748A>T , LRG_391:g.237748A>T
NG_051363.1:g.80229T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.57115A>T (TTN) MANE Select	NP_001254479.2:p.Lys19039Ter
ENST00000589042.5:c.57115A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys19039Ter
NM_001256850.1:c.52192A>T (TTN)	NP_001243779.1:p.Lys17398Ter
NM_003319.4:c.29920A>T (TTN)	NP_003310.4:p.Lys9974Ter
NM_133378.4:c.49411A>T (TTN)	NP_596869.4:p.Lys16471Ter
NM_133432.3:c.30295A>T (TTN)	NP_597676.3:p.Lys10099Ter
NM_133437.4:c.30496A>T (TTN)	NP_597681.4:p.Lys10166Ter
NR_038271.1:n.682+374T>A (TTN-AS1)
NR_038272.1:n.3450+374T>A (TTN-AS1)
ENST00000342175.10:c.30496A>T (TTN)	ENSP00000340554.6:p.Lys10166Ter
ENST00000342175.11:c.30496A>T (TTN)	ENSP00000340554.6:p.Lys10166Ter
ENST00000342992.10:c.49411A>T (TTN)	ENSP00000343764.6:p.Lys16471Ter
ENST00000342992.11:c.49411A>T (TTN)	ENSP00000343764.6:p.Lys16471Ter
ENST00000359218.10:c.30295A>T (TTN)	ENSP00000352154.5:p.Lys10099Ter
ENST00000359218.9:c.30295A>T (TTN)	ENSP00000352154.5:p.Lys10099Ter
ENST00000460472.6:c.29920A>T (TTN)	ENSP00000434586.1:p.Lys9974Ter
ENST00000591111.5:c.52192A>T (TTN)	ENSP00000465570.1:p.Lys17398Ter
ENST00000615779.4:c.52192A>T (TTN)	ENSP00000483597.1:p.Lys17398Ter
XM_011511729.1:c.56212A>T (TTN)	XP_011510031.1:p.Lys18738Ter
XM_011511730.1:c.30106A>T (TTN)	XP_011510032.1:p.Lys10036Ter
XM_011511731.1:c.29965A>T (TTN)	XP_011510033.1:p.Lys9989Ter
XM_017004819.1:c.56008A>T (TTN)	XP_016860308.1:p.Lys18670Ter
XM_017004820.1:c.51406A>T (TTN)	XP_016860309.1:p.Lys17136Ter
XM_017004821.1:c.51403A>T (TTN)	XP_016860310.1:p.Lys17135Ter
XM_017004822.1:c.48445A>T (TTN)	XP_016860311.1:p.Lys16149Ter
XM_017004823.1:c.30061A>T (TTN)	XP_016860312.1:p.Lys10021Ter
XM_024453094.1:c.51556A>T (TTN)	XP_024308862.1:p.Lys17186Ter
XM_024453095.1:c.51553A>T (TTN)	XP_024308863.1:p.Lys17185Ter
XM_024453096.1:c.50986A>T (TTN)	XP_024308864.1:p.Lys16996Ter
XM_024453097.1:c.48328A>T (TTN)	XP_024308865.1:p.Lys16110Ter
XM_024453098.1:c.48247A>T (TTN)	XP_024308866.1:p.Lys16083Ter
XM_024453099.1:c.30010A>T (TTN)	XP_024308867.1:p.Lys10004Ter
XM_024453100.1:c.19864A>T (TTN)	XP_024308868.1:p.Lys6622Ter