Canonical Allele Identifier: CA349660229
Community Standard Title: NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636165G>T , CM000664.2:g.178636165G>T GRCh38
NC_000002.11:g.179500892G>T , CM000664.1:g.179500892G>T GRCh37
NC_000002.10:g.179209137G>T NCBI36
NG_011618.3:g.199638C>A , LRG_391:g.199638C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41406C>A MANE Select NP_001254479.2:p.Cys13802Ter
ENST00000589042.5:c.41406C>A MANE Select ENSP00000467141.1:p.Cys13802Ter
NM_001256850.1:c.36483C>A NP_001243779.1:p.Cys12161Ter
NM_003319.4:c.14211C>A NP_003310.4:p.Cys4737Ter
NM_133378.4:c.33702C>A NP_596869.4:p.Cys11234Ter
NM_133432.3:c.14586C>A NP_597676.3:p.Cys4862Ter
NM_133437.4:c.14787C>A NP_597681.4:p.Cys4929Ter
ENST00000342175.10:c.14787C>A ENSP00000340554.6:p.Cys4929Ter
ENST00000342175.11:c.14787C>A ENSP00000340554.6:p.Cys4929Ter
ENST00000342992.10:c.33702C>A ENSP00000343764.6:p.Cys11234Ter
ENST00000342992.11:c.33702C>A ENSP00000343764.6:p.Cys11234Ter
ENST00000359218.10:c.14586C>A ENSP00000352154.5:p.Cys4862Ter
ENST00000359218.9:c.14586C>A ENSP00000352154.5:p.Cys4862Ter
ENST00000460472.6:c.14211C>A ENSP00000434586.1:p.Cys4737Ter
ENST00000591111.5:c.36483C>A ENSP00000465570.1:p.Cys12161Ter
ENST00000615779.4:c.36483C>A ENSP00000483597.1:p.Cys12161Ter
XM_011511729.1:c.40503C>A XP_011510031.1:p.Cys13501Ter
XM_011511730.1:c.14397C>A XP_011510032.1:p.Cys4799Ter
XM_011511731.1:c.14256C>A XP_011510033.1:p.Cys4752Ter
XM_017004819.1:c.40299C>A XP_016860308.1:p.Cys13433Ter
XM_017004820.1:c.35697C>A XP_016860309.1:p.Cys11899Ter
XM_017004821.1:c.35694C>A XP_016860310.1:p.Cys11898Ter
XM_017004822.1:c.32736C>A XP_016860311.1:p.Cys10912Ter
XM_017004823.1:c.14352C>A XP_016860312.1:p.Cys4784Ter
XM_024453094.1:c.35847C>A XP_024308862.1:p.Cys11949Ter
XM_024453095.1:c.35844C>A XP_024308863.1:p.Cys11948Ter
XM_024453096.1:c.35277C>A XP_024308864.1:p.Cys11759Ter
XM_024453097.1:c.32619C>A XP_024308865.1:p.Cys10873Ter
XM_024453098.1:c.32538C>A XP_024308866.1:p.Cys10846Ter
XM_024453099.1:c.14301C>A XP_024308867.1:p.Cys4767Ter
XM_024453100.1:c.4155C>A XP_024308868.1:p.Cys1385Ter