Canonical Allele Identifier: CA430295821

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740204T>C , CM000664.2:g.178740204T>C	GRCh38
NC_000002.11:g.179604931T>C , CM000664.1:g.179604931T>C	GRCh37
NC_000002.10:g.179313176T>C	NCBI36
NG_011618.3:g.95599A>G , LRG_391:g.95599A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.13029A>G MANE Select	NP_001254479.2:p.Glu4343=
ENST00000589042.5:c.13029A>G MANE Select	ENSP00000467141.1:p.Glu4343=
NM_001256850.1:c.12078A>G	NP_001243779.1:p.Glu4026=
NM_003319.4:c.11940A>G	NP_003310.4:p.Glu3980=
NM_133378.4:c.10361-1844A>G	NP_596869.4:n.10361-1844A>G
NM_133432.3:c.12315A>G	NP_597676.3:p.Glu4105=
NM_133437.4:c.12516A>G	NP_597681.4:p.Glu4172=
ENST00000342175.10:c.12516A>G	ENSP00000340554.6:p.Glu4172=
ENST00000342175.11:c.12516A>G	ENSP00000340554.6:p.Glu4172=
ENST00000342992.10:c.10361-1844A>G	ENSP00000343764.6:n.10361-1844A>G
ENST00000342992.11:c.10361-1844A>G	ENSP00000343764.6:n.10361-1844A>G
ENST00000359218.10:c.12315A>G	ENSP00000352154.5:p.Glu4105=
ENST00000359218.9:c.12315A>G	ENSP00000352154.5:p.Glu4105=
ENST00000460472.6:c.11940A>G	ENSP00000434586.1:p.Glu3980=
ENST00000591111.5:c.12078A>G	ENSP00000465570.1:p.Glu4026=
ENST00000615779.4:c.12078A>G	ENSP00000483597.1:p.Glu4026=
XM_011511729.1:c.12126A>G	XP_011510031.1:p.Glu4042=
XM_011511730.1:c.12126A>G	XP_011510032.1:p.Glu4042=
XM_011511731.1:c.11985A>G	XP_011510033.1:p.Glu3995=
XM_017004819.1:c.12081A>G	XP_016860308.1:p.Glu4027=
XM_017004820.1:c.10364-1844A>G	XP_016860309.1:n.10364-1844A>G
XM_017004821.1:c.10361-1844A>G	XP_016860310.1:n.10361-1844A>G
XM_017004822.1:c.12081A>G	XP_016860311.1:p.Glu4027=
XM_017004823.1:c.12081A>G	XP_016860312.1:p.Glu4027=
XM_024453094.1:c.12081A>G	XP_024308862.1:p.Glu4027=
XM_024453095.1:c.12081A>G	XP_024308863.1:p.Glu4027=
XM_024453096.1:c.12081A>G	XP_024308864.1:p.Glu4027=
XM_024453097.1:c.12081A>G	XP_024308865.1:p.Glu4027=
XM_024453098.1:c.12081A>G	XP_024308866.1:p.Glu4027=
XM_024453099.1:c.12081A>G	XP_024308867.1:p.Glu4027=