Canonical Allele Identifier: CA349628907
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620337T>A , CM000664.2:g.178620337T>A GRCh38
NC_000002.11:g.179485064T>A , CM000664.1:g.179485064T>A GRCh37
NC_000002.10:g.179193309T>A NCBI36
NG_011618.3:g.215466A>T , LRG_391:g.215466A>T
NG_051363.1:g.102511T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.38480A>T ENSP00000343764.6:p.Glu12827Val
ENST00000342175.11:c.19565A>T ENSP00000340554.6:p.Glu6522Val
ENST00000359218.10:c.19364A>T ENSP00000352154.5:p.Glu6455Val
ENST00000342175.10:c.19565A>T ENSP00000340554.6:p.Glu6522Val
ENST00000342992.10:c.38480A>T ENSP00000343764.6:p.Glu12827Val
ENST00000359218.9:c.19364A>T ENSP00000352154.5:p.Glu6455Val
ENST00000460472.6:c.18989A>T ENSP00000434586.1:p.Glu6330Val
ENST00000589042.5:c.46184A>T MANE Select ENSP00000467141.1:p.Glu15395Val
ENST00000591111.5:c.41261A>T ENSP00000465570.1:p.Glu13754Val
ENST00000615779.4:c.41261A>T ENSP00000483597.1:p.Glu13754Val
NM_001256850.1:c.41261A>T NP_001243779.1:p.Glu13754Val
NM_001267550.2:c.46184A>T MANE Select NP_001254479.2:p.Glu15395Val
NM_003319.4:c.18989A>T NP_003310.4:p.Glu6330Val
NM_133378.4:c.38480A>T NP_596869.4:p.Glu12827Val
NM_133432.3:c.19364A>T NP_597676.3:p.Glu6455Val
NM_133437.4:c.19565A>T NP_597681.4:p.Glu6522Val
XM_011511729.1:c.45281A>T XP_011510031.1:p.Glu15094Val
XM_011511730.1:c.19175A>T XP_011510032.1:p.Glu6392Val
XM_011511731.1:c.19034A>T XP_011510033.1:p.Glu6345Val
XM_017004819.1:c.45077A>T XP_016860308.1:p.Glu15026Val
XM_017004820.1:c.40475A>T XP_016860309.1:p.Glu13492Val
XM_017004821.1:c.40472A>T XP_016860310.1:p.Glu13491Val
XM_017004822.1:c.37514A>T XP_016860311.1:p.Glu12505Val
XM_017004823.1:c.19130A>T XP_016860312.1:p.Glu6377Val
XM_024453094.1:c.40625A>T XP_024308862.1:p.Glu13542Val
XM_024453095.1:c.40622A>T XP_024308863.1:p.Glu13541Val
XM_024453096.1:c.40055A>T XP_024308864.1:p.Glu13352Val
XM_024453097.1:c.37397A>T XP_024308865.1:p.Glu12466Val
XM_024453098.1:c.37316A>T XP_024308866.1:p.Glu12439Val
XM_024453099.1:c.19079A>T XP_024308867.1:p.Glu6360Val
XM_024453100.1:c.8933A>T XP_024308868.1:p.Glu2978Val