Canonical Allele Identifier: CA349579119

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609379C>A , CM000664.2:g.178609379C>A	GRCh38
NC_000002.11:g.179474106C>A , CM000664.1:g.179474106C>A	GRCh37
NC_000002.10:g.179182351C>A	NCBI36
NG_011618.3:g.226424G>T , LRG_391:g.226424G>T
NG_051363.1:g.91553C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51931G>T (TTN) MANE Select	NP_001254479.2:p.Glu17311Ter
ENST00000589042.5:c.51931G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17311Ter
NM_001256850.1:c.47008G>T (TTN)	NP_001243779.1:p.Glu15670Ter
NM_003319.4:c.24736G>T (TTN)	NP_003310.4:p.Glu8246Ter
NM_133378.4:c.44227G>T (TTN)	NP_596869.4:p.Glu14743Ter
NM_133432.3:c.25111G>T (TTN)	NP_597676.3:p.Glu8371Ter
NM_133437.4:c.25312G>T (TTN)	NP_597681.4:p.Glu8438Ter
NR_038271.1:n.782+1113C>A (TTN-AS1)
ENST00000342175.10:c.25312G>T (TTN)	ENSP00000340554.6:p.Glu8438Ter
ENST00000342175.11:c.25312G>T (TTN)	ENSP00000340554.6:p.Glu8438Ter
ENST00000342992.10:c.44227G>T (TTN)	ENSP00000343764.6:p.Glu14743Ter
ENST00000342992.11:c.44227G>T (TTN)	ENSP00000343764.6:p.Glu14743Ter
ENST00000359218.10:c.25111G>T (TTN)	ENSP00000352154.5:p.Glu8371Ter
ENST00000359218.9:c.25111G>T (TTN)	ENSP00000352154.5:p.Glu8371Ter
ENST00000460472.6:c.24736G>T (TTN)	ENSP00000434586.1:p.Glu8246Ter
ENST00000591111.5:c.47008G>T (TTN)	ENSP00000465570.1:p.Glu15670Ter
ENST00000615779.4:c.47008G>T (TTN)	ENSP00000483597.1:p.Glu15670Ter
XM_011511729.1:c.51028G>T (TTN)	XP_011510031.1:p.Glu17010Ter
XM_011511730.1:c.24922G>T (TTN)	XP_011510032.1:p.Glu8308Ter
XM_011511731.1:c.24781G>T (TTN)	XP_011510033.1:p.Glu8261Ter
XM_017004819.1:c.50824G>T (TTN)	XP_016860308.1:p.Glu16942Ter
XM_017004820.1:c.46222G>T (TTN)	XP_016860309.1:p.Glu15408Ter
XM_017004821.1:c.46219G>T (TTN)	XP_016860310.1:p.Glu15407Ter
XM_017004822.1:c.43261G>T (TTN)	XP_016860311.1:p.Glu14421Ter
XM_017004823.1:c.24877G>T (TTN)	XP_016860312.1:p.Glu8293Ter
XM_024453094.1:c.46372G>T (TTN)	XP_024308862.1:p.Glu15458Ter
XM_024453095.1:c.46369G>T (TTN)	XP_024308863.1:p.Glu15457Ter
XM_024453096.1:c.45802G>T (TTN)	XP_024308864.1:p.Glu15268Ter
XM_024453097.1:c.43144G>T (TTN)	XP_024308865.1:p.Glu14382Ter
XM_024453098.1:c.43063G>T (TTN)	XP_024308866.1:p.Glu14355Ter
XM_024453099.1:c.24826G>T (TTN)	XP_024308867.1:p.Glu8276Ter
XM_024453100.1:c.14680G>T (TTN)	XP_024308868.1:p.Glu4894Ter