Canonical Allele Identifier: CA349456186

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544330T>G , CM000664.2:g.178544330T>G GRCh38
NC_000002.11:g.179409057T>G , CM000664.1:g.179409057T>G GRCh37
NC_000002.10:g.179117303T>G NCBI36
NG_011618.3:g.291473A>C , LRG_391:g.291473A>C
NG_051363.1:g.26504T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88195A>C (TTN) ENSP00000343764.6:p.Asn29399His
ENST00000342175.11:c.69280A>C (TTN) ENSP00000340554.6:p.Asn23094His
ENST00000359218.10:c.69079A>C (TTN) ENSP00000352154.5:p.Asn23027His
ENST00000342175.10:c.69280A>C (TTN) ENSP00000340554.6:p.Asn23094His
ENST00000342992.10:c.88195A>C (TTN) ENSP00000343764.6:p.Asn29399His
ENST00000359218.9:c.69079A>C (TTN) ENSP00000352154.5:p.Asn23027His
ENST00000460472.6:c.68704A>C (TTN) ENSP00000434586.1:p.Asn22902His
ENST00000589042.5:c.95899A>C (TTN) MANE Select ENSP00000467141.1:p.Asn31967His
ENST00000591111.5:c.90976A>C (TTN) ENSP00000465570.1:p.Asn30326His
ENST00000615779.4:c.90976A>C (TTN) ENSP00000483597.1:p.Asn30326His
NM_001256850.1:c.90976A>C (TTN) NP_001243779.1:p.Asn30326His
NM_001267550.2:c.95899A>C (TTN) MANE Select NP_001254479.2:p.Asn31967His
NM_003319.4:c.68704A>C (TTN) NP_003310.4:p.Asn22902His
NM_133378.4:c.88195A>C (TTN) NP_596869.4:p.Asn29399His
NM_133432.3:c.69079A>C (TTN) NP_597676.3:p.Asn23027His
NM_133437.4:c.69280A>C (TTN) NP_597681.4:p.Asn23094His
NR_038271.1:n.446+20694T>G (TTN-AS1)
NR_038272.1:n.2043+1969T>G (TTN-AS1)
XM_011511729.1:c.94996A>C (TTN) XP_011510031.1:p.Asn31666His
XM_011511730.1:c.68890A>C (TTN) XP_011510032.1:p.Asn22964His
XM_011511731.1:c.68749A>C (TTN) XP_011510033.1:p.Asn22917His
XM_017004819.1:c.94792A>C (TTN) XP_016860308.1:p.Asn31598His
XM_017004820.1:c.90190A>C (TTN) XP_016860309.1:p.Asn30064His
XM_017004821.1:c.90187A>C (TTN) XP_016860310.1:p.Asn30063His
XM_017004822.1:c.87229A>C (TTN) XP_016860311.1:p.Asn29077His
XM_017004823.1:c.68845A>C (TTN) XP_016860312.1:p.Asn22949His
XM_024453094.1:c.90340A>C (TTN) XP_024308862.1:p.Asn30114His
XM_024453095.1:c.90337A>C (TTN) XP_024308863.1:p.Asn30113His
XM_024453096.1:c.89770A>C (TTN) XP_024308864.1:p.Asn29924His
XM_024453097.1:c.87112A>C (TTN) XP_024308865.1:p.Asn29038His
XM_024453098.1:c.87031A>C (TTN) XP_024308866.1:p.Asn29011His
XM_024453099.1:c.68794A>C (TTN) XP_024308867.1:p.Asn22932His
XM_024453100.1:c.58648A>C (TTN) XP_024308868.1:p.Asn19550His