Canonical Allele Identifier: CA349641809
Community Standard Title: NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178625383G>C , CM000664.2:g.178625383G>C GRCh38
NC_000002.11:g.179490110G>C , CM000664.1:g.179490110G>C GRCh37
NC_000002.10:g.179198355G>C NCBI36
NG_011618.3:g.210420C>G , LRG_391:g.210420C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44438C>G MANE Select NP_001254479.2:p.Ser14813Ter
ENST00000589042.5:c.44438C>G MANE Select ENSP00000467141.1:p.Ser14813Ter
NM_001256850.1:c.39515C>G NP_001243779.1:p.Ser13172Ter
NM_003319.4:c.17243C>G NP_003310.4:p.Ser5748Ter
NM_133378.4:c.36734C>G NP_596869.4:p.Ser12245Ter
NM_133432.3:c.17618C>G NP_597676.3:p.Ser5873Ter
NM_133437.4:c.17819C>G NP_597681.4:p.Ser5940Ter
ENST00000342175.10:c.17819C>G ENSP00000340554.6:p.Ser5940Ter
ENST00000342175.11:c.17819C>G ENSP00000340554.6:p.Ser5940Ter
ENST00000342992.10:c.36734C>G ENSP00000343764.6:p.Ser12245Ter
ENST00000342992.11:c.36734C>G ENSP00000343764.6:p.Ser12245Ter
ENST00000359218.10:c.17618C>G ENSP00000352154.5:p.Ser5873Ter
ENST00000359218.9:c.17618C>G ENSP00000352154.5:p.Ser5873Ter
ENST00000460472.6:c.17243C>G ENSP00000434586.1:p.Ser5748Ter
ENST00000591111.5:c.39515C>G ENSP00000465570.1:p.Ser13172Ter
ENST00000615779.4:c.39515C>G ENSP00000483597.1:p.Ser13172Ter
XM_011511729.1:c.43535C>G XP_011510031.1:p.Ser14512Ter
XM_011511730.1:c.17429C>G XP_011510032.1:p.Ser5810Ter
XM_011511731.1:c.17288C>G XP_011510033.1:p.Ser5763Ter
XM_017004819.1:c.43331C>G XP_016860308.1:p.Ser14444Ter
XM_017004820.1:c.38729C>G XP_016860309.1:p.Ser12910Ter
XM_017004821.1:c.38726C>G XP_016860310.1:p.Ser12909Ter
XM_017004822.1:c.35768C>G XP_016860311.1:p.Ser11923Ter
XM_017004823.1:c.17384C>G XP_016860312.1:p.Ser5795Ter
XM_024453094.1:c.38879C>G XP_024308862.1:p.Ser12960Ter
XM_024453095.1:c.38876C>G XP_024308863.1:p.Ser12959Ter
XM_024453096.1:c.38309C>G XP_024308864.1:p.Ser12770Ter
XM_024453097.1:c.35651C>G XP_024308865.1:p.Ser11884Ter
XM_024453098.1:c.35570C>G XP_024308866.1:p.Ser11857Ter
XM_024453099.1:c.17333C>G XP_024308867.1:p.Ser5778Ter
XM_024453100.1:c.7187C>G XP_024308868.1:p.Ser2396Ter