Canonical Allele Identifier: CA349454491

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544110G>A , CM000664.2:g.178544110G>A GRCh38
NC_000002.11:g.179408837G>A , CM000664.1:g.179408837G>A GRCh37
NC_000002.10:g.179117083G>A NCBI36
NG_011618.3:g.291693C>T , LRG_391:g.291693C>T
NG_051363.1:g.26284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88330C>T (TTN) ENSP00000343764.6:p.Pro29444Ser
ENST00000342175.11:c.69415C>T (TTN) ENSP00000340554.6:p.Pro23139Ser
ENST00000359218.10:c.69214C>T (TTN) ENSP00000352154.5:p.Pro23072Ser
ENST00000342175.10:c.69415C>T (TTN) ENSP00000340554.6:p.Pro23139Ser
ENST00000342992.10:c.88330C>T (TTN) ENSP00000343764.6:p.Pro29444Ser
ENST00000359218.9:c.69214C>T (TTN) ENSP00000352154.5:p.Pro23072Ser
ENST00000460472.6:c.68839C>T (TTN) ENSP00000434586.1:p.Pro22947Ser
ENST00000589042.5:c.96034C>T (TTN) MANE Select ENSP00000467141.1:p.Pro32012Ser
ENST00000591111.5:c.91111C>T (TTN) ENSP00000465570.1:p.Pro30371Ser
ENST00000615779.4:c.91111C>T (TTN) ENSP00000483597.1:p.Pro30371Ser
NM_001256850.1:c.91111C>T (TTN) NP_001243779.1:p.Pro30371Ser
NM_001267550.2:c.96034C>T (TTN) MANE Select NP_001254479.2:p.Pro32012Ser
NM_003319.4:c.68839C>T (TTN) NP_003310.4:p.Pro22947Ser
NM_133378.4:c.88330C>T (TTN) NP_596869.4:p.Pro29444Ser
NM_133432.3:c.69214C>T (TTN) NP_597676.3:p.Pro23072Ser
NM_133437.4:c.69415C>T (TTN) NP_597681.4:p.Pro23139Ser
NR_038271.1:n.446+20474G>A (TTN-AS1)
NR_038272.1:n.2043+1749G>A (TTN-AS1)
XM_011511729.1:c.95131C>T (TTN) XP_011510031.1:p.Pro31711Ser
XM_011511730.1:c.69025C>T (TTN) XP_011510032.1:p.Pro23009Ser
XM_011511731.1:c.68884C>T (TTN) XP_011510033.1:p.Pro22962Ser
XM_017004819.1:c.94927C>T (TTN) XP_016860308.1:p.Pro31643Ser
XM_017004820.1:c.90325C>T (TTN) XP_016860309.1:p.Pro30109Ser
XM_017004821.1:c.90322C>T (TTN) XP_016860310.1:p.Pro30108Ser
XM_017004822.1:c.87364C>T (TTN) XP_016860311.1:p.Pro29122Ser
XM_017004823.1:c.68980C>T (TTN) XP_016860312.1:p.Pro22994Ser
XM_024453094.1:c.90475C>T (TTN) XP_024308862.1:p.Pro30159Ser
XM_024453095.1:c.90472C>T (TTN) XP_024308863.1:p.Pro30158Ser
XM_024453096.1:c.89905C>T (TTN) XP_024308864.1:p.Pro29969Ser
XM_024453097.1:c.87247C>T (TTN) XP_024308865.1:p.Pro29083Ser
XM_024453098.1:c.87166C>T (TTN) XP_024308866.1:p.Pro29056Ser
XM_024453099.1:c.68929C>T (TTN) XP_024308867.1:p.Pro22977Ser
XM_024453100.1:c.58783C>T (TTN) XP_024308868.1:p.Pro19595Ser