Canonical Allele Identifier: CA349658735
Community Standard Title: NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636135C>T , CM000664.2:g.178636135C>T GRCh38
NC_000002.11:g.179500862C>T , CM000664.1:g.179500862C>T GRCh37
NC_000002.10:g.179209107C>T NCBI36
NG_011618.3:g.199668G>A , LRG_391:g.199668G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41436G>A MANE Select NP_001254479.2:p.Trp13812Ter
ENST00000589042.5:c.41436G>A MANE Select ENSP00000467141.1:p.Trp13812Ter
NM_001256850.1:c.36513G>A NP_001243779.1:p.Trp12171Ter
NM_003319.4:c.14241G>A NP_003310.4:p.Trp4747Ter
NM_133378.4:c.33732G>A NP_596869.4:p.Trp11244Ter
NM_133432.3:c.14616G>A NP_597676.3:p.Trp4872Ter
NM_133437.4:c.14817G>A NP_597681.4:p.Trp4939Ter
ENST00000342175.10:c.14817G>A ENSP00000340554.6:p.Trp4939Ter
ENST00000342175.11:c.14817G>A ENSP00000340554.6:p.Trp4939Ter
ENST00000342992.10:c.33732G>A ENSP00000343764.6:p.Trp11244Ter
ENST00000342992.11:c.33732G>A ENSP00000343764.6:p.Trp11244Ter
ENST00000359218.10:c.14616G>A ENSP00000352154.5:p.Trp4872Ter
ENST00000359218.9:c.14616G>A ENSP00000352154.5:p.Trp4872Ter
ENST00000460472.6:c.14241G>A ENSP00000434586.1:p.Trp4747Ter
ENST00000591111.5:c.36513G>A ENSP00000465570.1:p.Trp12171Ter
ENST00000615779.4:c.36513G>A ENSP00000483597.1:p.Trp12171Ter
XM_011511729.1:c.40533G>A XP_011510031.1:p.Trp13511Ter
XM_011511730.1:c.14427G>A XP_011510032.1:p.Trp4809Ter
XM_011511731.1:c.14286G>A XP_011510033.1:p.Trp4762Ter
XM_017004819.1:c.40329G>A XP_016860308.1:p.Trp13443Ter
XM_017004820.1:c.35727G>A XP_016860309.1:p.Trp11909Ter
XM_017004821.1:c.35724G>A XP_016860310.1:p.Trp11908Ter
XM_017004822.1:c.32766G>A XP_016860311.1:p.Trp10922Ter
XM_017004823.1:c.14382G>A XP_016860312.1:p.Trp4794Ter
XM_024453094.1:c.35877G>A XP_024308862.1:p.Trp11959Ter
XM_024453095.1:c.35874G>A XP_024308863.1:p.Trp11958Ter
XM_024453096.1:c.35307G>A XP_024308864.1:p.Trp11769Ter
XM_024453097.1:c.32649G>A XP_024308865.1:p.Trp10883Ter
XM_024453098.1:c.32568G>A XP_024308866.1:p.Trp10856Ter
XM_024453099.1:c.14331G>A XP_024308867.1:p.Trp4777Ter
XM_024453100.1:c.4185G>A XP_024308868.1:p.Trp1395Ter