Canonical Allele Identifier: CA349464886

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589314G>C , CM000664.2:g.178589314G>C GRCh38
NC_000002.11:g.179454041G>C , CM000664.1:g.179454041G>C GRCh37
NC_000002.10:g.179162287G>C NCBI36
NG_011618.3:g.246489C>G , LRG_391:g.246489C>G
NG_051363.1:g.71488G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.54707C>G (TTN) ENSP00000343764.6:p.Thr18236Ser
ENST00000342175.11:c.35792C>G (TTN) ENSP00000340554.6:p.Thr11931Ser
ENST00000359218.10:c.35591C>G (TTN) ENSP00000352154.5:p.Thr11864Ser
ENST00000342175.10:c.35792C>G (TTN) ENSP00000340554.6:p.Thr11931Ser
ENST00000342992.10:c.54707C>G (TTN) ENSP00000343764.6:p.Thr18236Ser
ENST00000359218.9:c.35591C>G (TTN) ENSP00000352154.5:p.Thr11864Ser
ENST00000460472.6:c.35216C>G (TTN) ENSP00000434586.1:p.Thr11739Ser
ENST00000589042.5:c.62411C>G (TTN) MANE Select ENSP00000467141.1:p.Thr20804Ser
ENST00000591111.5:c.57488C>G (TTN) ENSP00000465570.1:p.Thr19163Ser
ENST00000615779.4:c.57488C>G (TTN) ENSP00000483597.1:p.Thr19163Ser
NM_001256850.1:c.57488C>G (TTN) NP_001243779.1:p.Thr19163Ser
NM_001267550.2:c.62411C>G (TTN) MANE Select NP_001254479.2:p.Thr20804Ser
NM_003319.4:c.35216C>G (TTN) NP_003310.4:p.Thr11739Ser
NM_133378.4:c.54707C>G (TTN) NP_596869.4:p.Thr18236Ser
NM_133432.3:c.35591C>G (TTN) NP_597676.3:p.Thr11864Ser
NM_133437.4:c.35792C>G (TTN) NP_597681.4:p.Thr11931Ser
NR_038271.1:n.597-8282G>C (TTN-AS1)
NR_038272.1:n.3189-1825G>C (TTN-AS1)
XM_011511729.1:c.61508C>G (TTN) XP_011510031.1:p.Thr20503Ser
XM_011511730.1:c.35402C>G (TTN) XP_011510032.1:p.Thr11801Ser
XM_011511731.1:c.35261C>G (TTN) XP_011510033.1:p.Thr11754Ser
XM_017004819.1:c.61304C>G (TTN) XP_016860308.1:p.Thr20435Ser
XM_017004820.1:c.56702C>G (TTN) XP_016860309.1:p.Thr18901Ser
XM_017004821.1:c.56699C>G (TTN) XP_016860310.1:p.Thr18900Ser
XM_017004822.1:c.53741C>G (TTN) XP_016860311.1:p.Thr17914Ser
XM_017004823.1:c.35357C>G (TTN) XP_016860312.1:p.Thr11786Ser
XM_024453094.1:c.56852C>G (TTN) XP_024308862.1:p.Thr18951Ser
XM_024453095.1:c.56849C>G (TTN) XP_024308863.1:p.Thr18950Ser
XM_024453096.1:c.56282C>G (TTN) XP_024308864.1:p.Thr18761Ser
XM_024453097.1:c.53624C>G (TTN) XP_024308865.1:p.Thr17875Ser
XM_024453098.1:c.53543C>G (TTN) XP_024308866.1:p.Thr17848Ser
XM_024453099.1:c.35306C>G (TTN) XP_024308867.1:p.Thr11769Ser
XM_024453100.1:c.25160C>G (TTN) XP_024308868.1:p.Thr8387Ser