Canonical Allele Identifier: CA349398617

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527122G>T , CM000664.2:g.178527122G>T GRCh38
NC_000002.11:g.179391849G>T , CM000664.1:g.179391849G>T GRCh37
NC_000002.10:g.179100095G>T NCBI36
NG_011618.3:g.308681C>A , LRG_391:g.308681C>A
NG_051363.1:g.9296G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100162C>A (TTN) ENSP00000343764.6:p.Leu33388Met
ENST00000342175.11:c.81247C>A (TTN) ENSP00000340554.6:p.Leu27083Met
ENST00000359218.10:c.81046C>A (TTN) ENSP00000352154.5:p.Leu27016Met
ENST00000342175.10:c.81247C>A (TTN) ENSP00000340554.6:p.Leu27083Met
ENST00000342992.10:c.100162C>A (TTN) ENSP00000343764.6:p.Leu33388Met
ENST00000359218.9:c.81046C>A (TTN) ENSP00000352154.5:p.Leu27016Met
ENST00000460472.6:c.80671C>A (TTN) ENSP00000434586.1:p.Leu26891Met
ENST00000589042.5:c.107866C>A (TTN) MANE Select ENSP00000467141.1:p.Leu35956Met
ENST00000591111.5:c.102943C>A (TTN) ENSP00000465570.1:p.Leu34315Met
ENST00000615779.4:c.102943C>A (TTN) ENSP00000483597.1:p.Leu34315Met
NM_001256850.1:c.102943C>A (TTN) NP_001243779.1:p.Leu34315Met
NM_001267550.2:c.107866C>A (TTN) MANE Select NP_001254479.2:p.Leu35956Met
NM_003319.4:c.80671C>A (TTN) NP_003310.4:p.Leu26891Met
NM_133378.4:c.100162C>A (TTN) NP_596869.4:p.Leu33388Met
NM_133432.3:c.81046C>A (TTN) NP_597676.3:p.Leu27016Met
NM_133437.4:c.81247C>A (TTN) NP_597681.4:p.Leu27083Met
NR_038271.1:n.446+3486G>T (TTN-AS1)
NR_038272.1:n.219+3486G>T (TTN-AS1)
XM_011511729.1:c.106963C>A (TTN) XP_011510031.1:p.Leu35655Met
XM_011511730.1:c.80857C>A (TTN) XP_011510032.1:p.Leu26953Met
XM_011511731.1:c.80716C>A (TTN) XP_011510033.1:p.Leu26906Met
XM_017004819.1:c.106759C>A (TTN) XP_016860308.1:p.Leu35587Met
XM_017004820.1:c.102157C>A (TTN) XP_016860309.1:p.Leu34053Met
XM_017004821.1:c.102154C>A (TTN) XP_016860310.1:p.Leu34052Met
XM_017004822.1:c.99196C>A (TTN) XP_016860311.1:p.Leu33066Met
XM_017004823.1:c.80812C>A (TTN) XP_016860312.1:p.Leu26938Met
XM_024453094.1:c.102307C>A (TTN) XP_024308862.1:p.Leu34103Met
XM_024453095.1:c.102304C>A (TTN) XP_024308863.1:p.Leu34102Met
XM_024453096.1:c.101737C>A (TTN) XP_024308864.1:p.Leu33913Met
XM_024453097.1:c.99079C>A (TTN) XP_024308865.1:p.Leu33027Met
XM_024453098.1:c.98998C>A (TTN) XP_024308866.1:p.Leu33000Met
XM_024453099.1:c.80761C>A (TTN) XP_024308867.1:p.Leu26921Met
XM_024453100.1:c.70615C>A (TTN) XP_024308868.1:p.Leu23539Met