Canonical Allele Identifier: CA349634546
Community Standard Title: NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621287G>T , CM000664.2:g.178621287G>T GRCh38
NC_000002.11:g.179486014G>T , CM000664.1:g.179486014G>T GRCh37
NC_000002.10:g.179194259G>T NCBI36
NG_011618.3:g.214516C>A , LRG_391:g.214516C>A
NG_051363.1:g.103461G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45431C>A MANE Select NP_001254479.2:p.Ser15144Ter
ENST00000589042.5:c.45431C>A MANE Select ENSP00000467141.1:p.Ser15144Ter
NM_001256850.1:c.40508C>A NP_001243779.1:p.Ser13503Ter
NM_003319.4:c.18236C>A NP_003310.4:p.Ser6079Ter
NM_133378.4:c.37727C>A NP_596869.4:p.Ser12576Ter
NM_133432.3:c.18611C>A NP_597676.3:p.Ser6204Ter
NM_133437.4:c.18812C>A NP_597681.4:p.Ser6271Ter
ENST00000342175.10:c.18812C>A ENSP00000340554.6:p.Ser6271Ter
ENST00000342175.11:c.18812C>A ENSP00000340554.6:p.Ser6271Ter
ENST00000342992.10:c.37727C>A ENSP00000343764.6:p.Ser12576Ter
ENST00000342992.11:c.37727C>A ENSP00000343764.6:p.Ser12576Ter
ENST00000359218.10:c.18611C>A ENSP00000352154.5:p.Ser6204Ter
ENST00000359218.9:c.18611C>A ENSP00000352154.5:p.Ser6204Ter
ENST00000460472.6:c.18236C>A ENSP00000434586.1:p.Ser6079Ter
ENST00000591111.5:c.40508C>A ENSP00000465570.1:p.Ser13503Ter
ENST00000615779.4:c.40508C>A ENSP00000483597.1:p.Ser13503Ter
XM_011511729.1:c.44528C>A XP_011510031.1:p.Ser14843Ter
XM_011511730.1:c.18422C>A XP_011510032.1:p.Ser6141Ter
XM_011511731.1:c.18281C>A XP_011510033.1:p.Ser6094Ter
XM_017004819.1:c.44324C>A XP_016860308.1:p.Ser14775Ter
XM_017004820.1:c.39722C>A XP_016860309.1:p.Ser13241Ter
XM_017004821.1:c.39719C>A XP_016860310.1:p.Ser13240Ter
XM_017004822.1:c.36761C>A XP_016860311.1:p.Ser12254Ter
XM_017004823.1:c.18377C>A XP_016860312.1:p.Ser6126Ter
XM_024453094.1:c.39872C>A XP_024308862.1:p.Ser13291Ter
XM_024453095.1:c.39869C>A XP_024308863.1:p.Ser13290Ter
XM_024453096.1:c.39302C>A XP_024308864.1:p.Ser13101Ter
XM_024453097.1:c.36644C>A XP_024308865.1:p.Ser12215Ter
XM_024453098.1:c.36563C>A XP_024308866.1:p.Ser12188Ter
XM_024453099.1:c.18326C>A XP_024308867.1:p.Ser6109Ter
XM_024453100.1:c.8180C>A XP_024308868.1:p.Ser2727Ter