Canonical Allele Identifier: CA349502860

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551677C>T , CM000664.2:g.178551677C>T GRCh38
NC_000002.11:g.179416404C>T , CM000664.1:g.179416404C>T GRCh37
NC_000002.10:g.179124650C>T NCBI36
NG_011618.3:g.284126G>A , LRG_391:g.284126G>A
NG_051363.1:g.33851C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83519G>A (TTN) ENSP00000343764.6:p.Ser27840Asn
ENST00000342175.11:c.64604G>A (TTN) ENSP00000340554.6:p.Ser21535Asn
ENST00000359218.10:c.64403G>A (TTN) ENSP00000352154.5:p.Ser21468Asn
ENST00000342175.10:c.64604G>A (TTN) ENSP00000340554.6:p.Ser21535Asn
ENST00000342992.10:c.83519G>A (TTN) ENSP00000343764.6:p.Ser27840Asn
ENST00000359218.9:c.64403G>A (TTN) ENSP00000352154.5:p.Ser21468Asn
ENST00000460472.6:c.64028G>A (TTN) ENSP00000434586.1:p.Ser21343Asn
ENST00000589042.5:c.91223G>A (TTN) MANE Select ENSP00000467141.1:p.Ser30408Asn
ENST00000591111.5:c.86300G>A (TTN) ENSP00000465570.1:p.Ser28767Asn
ENST00000615779.4:c.86300G>A (TTN) ENSP00000483597.1:p.Ser28767Asn
NM_001256850.1:c.86300G>A (TTN) NP_001243779.1:p.Ser28767Asn
NM_001267550.2:c.91223G>A (TTN) MANE Select NP_001254479.2:p.Ser30408Asn
NM_003319.4:c.64028G>A (TTN) NP_003310.4:p.Ser21343Asn
NM_133378.4:c.83519G>A (TTN) NP_596869.4:p.Ser27840Asn
NM_133432.3:c.64403G>A (TTN) NP_597676.3:p.Ser21468Asn
NM_133437.4:c.64604G>A (TTN) NP_597681.4:p.Ser21535Asn
NR_038271.1:n.447-19623C>T (TTN-AS1)
NR_038272.1:n.2043+9316C>T (TTN-AS1)
XM_011511729.1:c.90320G>A (TTN) XP_011510031.1:p.Ser30107Asn
XM_011511730.1:c.64214G>A (TTN) XP_011510032.1:p.Ser21405Asn
XM_011511731.1:c.64073G>A (TTN) XP_011510033.1:p.Ser21358Asn
XM_017004819.1:c.90116G>A (TTN) XP_016860308.1:p.Ser30039Asn
XM_017004820.1:c.85514G>A (TTN) XP_016860309.1:p.Ser28505Asn
XM_017004821.1:c.85511G>A (TTN) XP_016860310.1:p.Ser28504Asn
XM_017004822.1:c.82553G>A (TTN) XP_016860311.1:p.Ser27518Asn
XM_017004823.1:c.64169G>A (TTN) XP_016860312.1:p.Ser21390Asn
XM_024453094.1:c.85664G>A (TTN) XP_024308862.1:p.Ser28555Asn
XM_024453095.1:c.85661G>A (TTN) XP_024308863.1:p.Ser28554Asn
XM_024453096.1:c.85094G>A (TTN) XP_024308864.1:p.Ser28365Asn
XM_024453097.1:c.82436G>A (TTN) XP_024308865.1:p.Ser27479Asn
XM_024453098.1:c.82355G>A (TTN) XP_024308866.1:p.Ser27452Asn
XM_024453099.1:c.64118G>A (TTN) XP_024308867.1:p.Ser21373Asn
XM_024453100.1:c.53972G>A (TTN) XP_024308868.1:p.Ser17991Asn