Canonical Allele Identifier: CA349601389

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567402T>A , CM000664.2:g.178567402T>A GRCh38
NC_000002.11:g.179432129T>A , CM000664.1:g.179432129T>A GRCh37
NC_000002.10:g.179140375T>A NCBI36
NG_011618.3:g.268401A>T , LRG_391:g.268401A>T
NG_051363.1:g.49576T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71026A>T (TTN) ENSP00000343764.6:p.Asn23676Tyr
ENST00000342175.11:c.52111A>T (TTN) ENSP00000340554.6:p.Asn17371Tyr
ENST00000359218.10:c.51910A>T (TTN) ENSP00000352154.5:p.Asn17304Tyr
ENST00000342175.10:c.52111A>T (TTN) ENSP00000340554.6:p.Asn17371Tyr
ENST00000342992.10:c.71026A>T (TTN) ENSP00000343764.6:p.Asn23676Tyr
ENST00000359218.9:c.51910A>T (TTN) ENSP00000352154.5:p.Asn17304Tyr
ENST00000460472.6:c.51535A>T (TTN) ENSP00000434586.1:p.Asn17179Tyr
ENST00000589042.5:c.78730A>T (TTN) MANE Select ENSP00000467141.1:p.Asn26244Tyr
ENST00000591111.5:c.73807A>T (TTN) ENSP00000465570.1:p.Asn24603Tyr
ENST00000615779.4:c.73807A>T (TTN) ENSP00000483597.1:p.Asn24603Tyr
NM_001256850.1:c.73807A>T (TTN) NP_001243779.1:p.Asn24603Tyr
NM_001267550.2:c.78730A>T (TTN) MANE Select NP_001254479.2:p.Asn26244Tyr
NM_003319.4:c.51535A>T (TTN) NP_003310.4:p.Asn17179Tyr
NM_133378.4:c.71026A>T (TTN) NP_596869.4:p.Asn23676Tyr
NM_133432.3:c.51910A>T (TTN) NP_597676.3:p.Asn17304Tyr
NM_133437.4:c.52111A>T (TTN) NP_597681.4:p.Asn17371Tyr
NR_038271.1:n.447-3898T>A (TTN-AS1)
NR_038272.1:n.2044-15170T>A (TTN-AS1)
XM_011511729.1:c.77827A>T (TTN) XP_011510031.1:p.Asn25943Tyr
XM_011511730.1:c.51721A>T (TTN) XP_011510032.1:p.Asn17241Tyr
XM_011511731.1:c.51580A>T (TTN) XP_011510033.1:p.Asn17194Tyr
XM_017004819.1:c.77623A>T (TTN) XP_016860308.1:p.Asn25875Tyr
XM_017004820.1:c.73021A>T (TTN) XP_016860309.1:p.Asn24341Tyr
XM_017004821.1:c.73018A>T (TTN) XP_016860310.1:p.Asn24340Tyr
XM_017004822.1:c.70060A>T (TTN) XP_016860311.1:p.Asn23354Tyr
XM_017004823.1:c.51676A>T (TTN) XP_016860312.1:p.Asn17226Tyr
XM_024453094.1:c.73171A>T (TTN) XP_024308862.1:p.Asn24391Tyr
XM_024453095.1:c.73168A>T (TTN) XP_024308863.1:p.Asn24390Tyr
XM_024453096.1:c.72601A>T (TTN) XP_024308864.1:p.Asn24201Tyr
XM_024453097.1:c.69943A>T (TTN) XP_024308865.1:p.Asn23315Tyr
XM_024453098.1:c.69862A>T (TTN) XP_024308866.1:p.Asn23288Tyr
XM_024453099.1:c.51625A>T (TTN) XP_024308867.1:p.Asn17209Tyr
XM_024453100.1:c.41479A>T (TTN) XP_024308868.1:p.Asn13827Tyr