Canonical Allele Identifier: CA349456967

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544388T>G , CM000664.2:g.178544388T>G GRCh38
NC_000002.11:g.179409115T>G , CM000664.1:g.179409115T>G GRCh37
NC_000002.10:g.179117361T>G NCBI36
NG_011618.3:g.291415A>C , LRG_391:g.291415A>C
NG_051363.1:g.26562T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88137A>C (TTN) ENSP00000343764.6:p.Glu29379Asp
ENST00000342175.11:c.69222A>C (TTN) ENSP00000340554.6:p.Glu23074Asp
ENST00000359218.10:c.69021A>C (TTN) ENSP00000352154.5:p.Glu23007Asp
ENST00000342175.10:c.69222A>C (TTN) ENSP00000340554.6:p.Glu23074Asp
ENST00000342992.10:c.88137A>C (TTN) ENSP00000343764.6:p.Glu29379Asp
ENST00000359218.9:c.69021A>C (TTN) ENSP00000352154.5:p.Glu23007Asp
ENST00000460472.6:c.68646A>C (TTN) ENSP00000434586.1:p.Glu22882Asp
ENST00000589042.5:c.95841A>C (TTN) MANE Select ENSP00000467141.1:p.Glu31947Asp
ENST00000591111.5:c.90918A>C (TTN) ENSP00000465570.1:p.Glu30306Asp
ENST00000615779.4:c.90918A>C (TTN) ENSP00000483597.1:p.Glu30306Asp
NM_001256850.1:c.90918A>C (TTN) NP_001243779.1:p.Glu30306Asp
NM_001267550.2:c.95841A>C (TTN) MANE Select NP_001254479.2:p.Glu31947Asp
NM_003319.4:c.68646A>C (TTN) NP_003310.4:p.Glu22882Asp
NM_133378.4:c.88137A>C (TTN) NP_596869.4:p.Glu29379Asp
NM_133432.3:c.69021A>C (TTN) NP_597676.3:p.Glu23007Asp
NM_133437.4:c.69222A>C (TTN) NP_597681.4:p.Glu23074Asp
NR_038271.1:n.446+20752T>G (TTN-AS1)
NR_038272.1:n.2043+2027T>G (TTN-AS1)
XM_011511729.1:c.94938A>C (TTN) XP_011510031.1:p.Glu31646Asp
XM_011511730.1:c.68832A>C (TTN) XP_011510032.1:p.Glu22944Asp
XM_011511731.1:c.68691A>C (TTN) XP_011510033.1:p.Glu22897Asp
XM_017004819.1:c.94734A>C (TTN) XP_016860308.1:p.Glu31578Asp
XM_017004820.1:c.90132A>C (TTN) XP_016860309.1:p.Glu30044Asp
XM_017004821.1:c.90129A>C (TTN) XP_016860310.1:p.Glu30043Asp
XM_017004822.1:c.87171A>C (TTN) XP_016860311.1:p.Glu29057Asp
XM_017004823.1:c.68787A>C (TTN) XP_016860312.1:p.Glu22929Asp
XM_024453094.1:c.90282A>C (TTN) XP_024308862.1:p.Glu30094Asp
XM_024453095.1:c.90279A>C (TTN) XP_024308863.1:p.Glu30093Asp
XM_024453096.1:c.89712A>C (TTN) XP_024308864.1:p.Glu29904Asp
XM_024453097.1:c.87054A>C (TTN) XP_024308865.1:p.Glu29018Asp
XM_024453098.1:c.86973A>C (TTN) XP_024308866.1:p.Glu28991Asp
XM_024453099.1:c.68736A>C (TTN) XP_024308867.1:p.Glu22912Asp
XM_024453100.1:c.58590A>C (TTN) XP_024308868.1:p.Glu19530Asp