Canonical Allele Identifier: CA430277019

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632743C>T , CM000664.2:g.178632743C>T	GRCh38
NC_000002.11:g.179497470C>T , CM000664.1:g.179497470C>T	GRCh37
NC_000002.10:g.179205715C>T	NCBI36
NG_011618.3:g.203060G>A , LRG_391:g.203060G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.43263G>A MANE Select	NP_001254479.2:p.Glu14421=
ENST00000589042.5:c.43263G>A MANE Select	ENSP00000467141.1:p.Glu14421=
NM_001256850.1:c.38340G>A	NP_001243779.1:p.Glu12780=
NM_003319.4:c.16068G>A	NP_003310.4:p.Glu5356=
NM_133378.4:c.35559G>A	NP_596869.4:p.Glu11853=
NM_133432.3:c.16443G>A	NP_597676.3:p.Glu5481=
NM_133437.4:c.16644G>A	NP_597681.4:p.Glu5548=
ENST00000342175.10:c.16644G>A	ENSP00000340554.6:p.Glu5548=
ENST00000342175.11:c.16644G>A	ENSP00000340554.6:p.Glu5548=
ENST00000342992.10:c.35559G>A	ENSP00000343764.6:p.Glu11853=
ENST00000342992.11:c.35559G>A	ENSP00000343764.6:p.Glu11853=
ENST00000359218.10:c.16443G>A	ENSP00000352154.5:p.Glu5481=
ENST00000359218.9:c.16443G>A	ENSP00000352154.5:p.Glu5481=
ENST00000460472.6:c.16068G>A	ENSP00000434586.1:p.Glu5356=
ENST00000591111.5:c.38340G>A	ENSP00000465570.1:p.Glu12780=
ENST00000615779.4:c.38340G>A	ENSP00000483597.1:p.Glu12780=
XM_011511729.1:c.42360G>A	XP_011510031.1:p.Glu14120=
XM_011511730.1:c.16254G>A	XP_011510032.1:p.Glu5418=
XM_011511731.1:c.16113G>A	XP_011510033.1:p.Glu5371=
XM_017004819.1:c.42156G>A	XP_016860308.1:p.Glu14052=
XM_017004820.1:c.37554G>A	XP_016860309.1:p.Glu12518=
XM_017004821.1:c.37551G>A	XP_016860310.1:p.Glu12517=
XM_017004822.1:c.34593G>A	XP_016860311.1:p.Glu11531=
XM_017004823.1:c.16209G>A	XP_016860312.1:p.Glu5403=
XM_024453094.1:c.37704G>A	XP_024308862.1:p.Glu12568=
XM_024453095.1:c.37701G>A	XP_024308863.1:p.Glu12567=
XM_024453096.1:c.37134G>A	XP_024308864.1:p.Glu12378=
XM_024453097.1:c.34476G>A	XP_024308865.1:p.Glu11492=
XM_024453098.1:c.34395G>A	XP_024308866.1:p.Glu11465=
XM_024453099.1:c.16158G>A	XP_024308867.1:p.Glu5386=
XM_024453100.1:c.6012G>A	XP_024308868.1:p.Glu2004=