Canonical Allele Identifier: CA349672040

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577893G>A , CM000664.2:g.178577893G>A GRCh38
NC_000002.11:g.179442620G>A , CM000664.1:g.179442620G>A GRCh37
NC_000002.10:g.179150866G>A NCBI36
NG_011618.3:g.257910C>T , LRG_391:g.257910C>T
NG_051363.1:g.60067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60829C>T (TTN) ENSP00000343764.6:p.Pro20277Ser
ENST00000342175.11:c.41914C>T (TTN) ENSP00000340554.6:p.Pro13972Ser
ENST00000359218.10:c.41713C>T (TTN) ENSP00000352154.5:p.Pro13905Ser
ENST00000342175.10:c.41914C>T (TTN) ENSP00000340554.6:p.Pro13972Ser
ENST00000342992.10:c.60829C>T (TTN) ENSP00000343764.6:p.Pro20277Ser
ENST00000359218.9:c.41713C>T (TTN) ENSP00000352154.5:p.Pro13905Ser
ENST00000460472.6:c.41338C>T (TTN) ENSP00000434586.1:p.Pro13780Ser
ENST00000589042.5:c.68533C>T (TTN) MANE Select ENSP00000467141.1:p.Pro22845Ser
ENST00000591111.5:c.63610C>T (TTN) ENSP00000465570.1:p.Pro21204Ser
ENST00000615779.4:c.63610C>T (TTN) ENSP00000483597.1:p.Pro21204Ser
NM_001256850.1:c.63610C>T (TTN) NP_001243779.1:p.Pro21204Ser
NM_001267550.2:c.68533C>T (TTN) MANE Select NP_001254479.2:p.Pro22845Ser
NM_003319.4:c.41338C>T (TTN) NP_003310.4:p.Pro13780Ser
NM_133378.4:c.60829C>T (TTN) NP_596869.4:p.Pro20277Ser
NM_133432.3:c.41713C>T (TTN) NP_597676.3:p.Pro13905Ser
NM_133437.4:c.41914C>T (TTN) NP_597681.4:p.Pro13972Ser
NR_038271.1:n.596+6444G>A (TTN-AS1)
NR_038272.1:n.2044-4679G>A (TTN-AS1)
XM_011511729.1:c.67630C>T (TTN) XP_011510031.1:p.Pro22544Ser
XM_011511730.1:c.41524C>T (TTN) XP_011510032.1:p.Pro13842Ser
XM_011511731.1:c.41383C>T (TTN) XP_011510033.1:p.Pro13795Ser
XM_017004819.1:c.67426C>T (TTN) XP_016860308.1:p.Pro22476Ser
XM_017004820.1:c.62824C>T (TTN) XP_016860309.1:p.Pro20942Ser
XM_017004821.1:c.62821C>T (TTN) XP_016860310.1:p.Pro20941Ser
XM_017004822.1:c.59863C>T (TTN) XP_016860311.1:p.Pro19955Ser
XM_017004823.1:c.41479C>T (TTN) XP_016860312.1:p.Pro13827Ser
XM_024453094.1:c.62974C>T (TTN) XP_024308862.1:p.Pro20992Ser
XM_024453095.1:c.62971C>T (TTN) XP_024308863.1:p.Pro20991Ser
XM_024453096.1:c.62404C>T (TTN) XP_024308864.1:p.Pro20802Ser
XM_024453097.1:c.59746C>T (TTN) XP_024308865.1:p.Pro19916Ser
XM_024453098.1:c.59665C>T (TTN) XP_024308866.1:p.Pro19889Ser
XM_024453099.1:c.41428C>T (TTN) XP_024308867.1:p.Pro13810Ser
XM_024453100.1:c.31282C>T (TTN) XP_024308868.1:p.Pro10428Ser