Canonical Allele Identifier: CA349627970
Community Standard Title: NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620236C>A , CM000664.2:g.178620236C>A GRCh38
NC_000002.11:g.179484963C>A , CM000664.1:g.179484963C>A GRCh37
NC_000002.10:g.179193208C>A NCBI36
NG_011618.3:g.215567G>T , LRG_391:g.215567G>T
NG_051363.1:g.102410C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46285G>T MANE Select NP_001254479.2:p.Glu15429Ter
ENST00000589042.5:c.46285G>T MANE Select ENSP00000467141.1:p.Glu15429Ter
NM_001256850.1:c.41362G>T NP_001243779.1:p.Glu13788Ter
NM_003319.4:c.19090G>T NP_003310.4:p.Glu6364Ter
NM_133378.4:c.38581G>T NP_596869.4:p.Glu12861Ter
NM_133432.3:c.19465G>T NP_597676.3:p.Glu6489Ter
NM_133437.4:c.19666G>T NP_597681.4:p.Glu6556Ter
ENST00000342175.10:c.19666G>T ENSP00000340554.6:p.Glu6556Ter
ENST00000342175.11:c.19666G>T ENSP00000340554.6:p.Glu6556Ter
ENST00000342992.10:c.38581G>T ENSP00000343764.6:p.Glu12861Ter
ENST00000342992.11:c.38581G>T ENSP00000343764.6:p.Glu12861Ter
ENST00000359218.10:c.19465G>T ENSP00000352154.5:p.Glu6489Ter
ENST00000359218.9:c.19465G>T ENSP00000352154.5:p.Glu6489Ter
ENST00000460472.6:c.19090G>T ENSP00000434586.1:p.Glu6364Ter
ENST00000591111.5:c.41362G>T ENSP00000465570.1:p.Glu13788Ter
ENST00000615779.4:c.41362G>T ENSP00000483597.1:p.Glu13788Ter
XM_011511729.1:c.45382G>T XP_011510031.1:p.Glu15128Ter
XM_011511730.1:c.19276G>T XP_011510032.1:p.Glu6426Ter
XM_011511731.1:c.19135G>T XP_011510033.1:p.Glu6379Ter
XM_017004819.1:c.45178G>T XP_016860308.1:p.Glu15060Ter
XM_017004820.1:c.40576G>T XP_016860309.1:p.Glu13526Ter
XM_017004821.1:c.40573G>T XP_016860310.1:p.Glu13525Ter
XM_017004822.1:c.37615G>T XP_016860311.1:p.Glu12539Ter
XM_017004823.1:c.19231G>T XP_016860312.1:p.Glu6411Ter
XM_024453094.1:c.40726G>T XP_024308862.1:p.Glu13576Ter
XM_024453095.1:c.40723G>T XP_024308863.1:p.Glu13575Ter
XM_024453096.1:c.40156G>T XP_024308864.1:p.Glu13386Ter
XM_024453097.1:c.37498G>T XP_024308865.1:p.Glu12500Ter
XM_024453098.1:c.37417G>T XP_024308866.1:p.Glu12473Ter
XM_024453099.1:c.19180G>T XP_024308867.1:p.Glu6394Ter
XM_024453100.1:c.9034G>T XP_024308868.1:p.Glu3012Ter