Canonical Allele Identifier: CA349601383

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567401T>A , CM000664.2:g.178567401T>A GRCh38
NC_000002.11:g.179432128T>A , CM000664.1:g.179432128T>A GRCh37
NC_000002.10:g.179140374T>A NCBI36
NG_011618.3:g.268402A>T , LRG_391:g.268402A>T
NG_051363.1:g.49575T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71027A>T (TTN) ENSP00000343764.6:p.Asn23676Ile
ENST00000342175.11:c.52112A>T (TTN) ENSP00000340554.6:p.Asn17371Ile
ENST00000359218.10:c.51911A>T (TTN) ENSP00000352154.5:p.Asn17304Ile
ENST00000342175.10:c.52112A>T (TTN) ENSP00000340554.6:p.Asn17371Ile
ENST00000342992.10:c.71027A>T (TTN) ENSP00000343764.6:p.Asn23676Ile
ENST00000359218.9:c.51911A>T (TTN) ENSP00000352154.5:p.Asn17304Ile
ENST00000460472.6:c.51536A>T (TTN) ENSP00000434586.1:p.Asn17179Ile
ENST00000589042.5:c.78731A>T (TTN) MANE Select ENSP00000467141.1:p.Asn26244Ile
ENST00000591111.5:c.73808A>T (TTN) ENSP00000465570.1:p.Asn24603Ile
ENST00000615779.4:c.73808A>T (TTN) ENSP00000483597.1:p.Asn24603Ile
NM_001256850.1:c.73808A>T (TTN) NP_001243779.1:p.Asn24603Ile
NM_001267550.2:c.78731A>T (TTN) MANE Select NP_001254479.2:p.Asn26244Ile
NM_003319.4:c.51536A>T (TTN) NP_003310.4:p.Asn17179Ile
NM_133378.4:c.71027A>T (TTN) NP_596869.4:p.Asn23676Ile
NM_133432.3:c.51911A>T (TTN) NP_597676.3:p.Asn17304Ile
NM_133437.4:c.52112A>T (TTN) NP_597681.4:p.Asn17371Ile
NR_038271.1:n.447-3899T>A (TTN-AS1)
NR_038272.1:n.2044-15171T>A (TTN-AS1)
XM_011511729.1:c.77828A>T (TTN) XP_011510031.1:p.Asn25943Ile
XM_011511730.1:c.51722A>T (TTN) XP_011510032.1:p.Asn17241Ile
XM_011511731.1:c.51581A>T (TTN) XP_011510033.1:p.Asn17194Ile
XM_017004819.1:c.77624A>T (TTN) XP_016860308.1:p.Asn25875Ile
XM_017004820.1:c.73022A>T (TTN) XP_016860309.1:p.Asn24341Ile
XM_017004821.1:c.73019A>T (TTN) XP_016860310.1:p.Asn24340Ile
XM_017004822.1:c.70061A>T (TTN) XP_016860311.1:p.Asn23354Ile
XM_017004823.1:c.51677A>T (TTN) XP_016860312.1:p.Asn17226Ile
XM_024453094.1:c.73172A>T (TTN) XP_024308862.1:p.Asn24391Ile
XM_024453095.1:c.73169A>T (TTN) XP_024308863.1:p.Asn24390Ile
XM_024453096.1:c.72602A>T (TTN) XP_024308864.1:p.Asn24201Ile
XM_024453097.1:c.69944A>T (TTN) XP_024308865.1:p.Asn23315Ile
XM_024453098.1:c.69863A>T (TTN) XP_024308866.1:p.Asn23288Ile
XM_024453099.1:c.51626A>T (TTN) XP_024308867.1:p.Asn17209Ile
XM_024453100.1:c.41480A>T (TTN) XP_024308868.1:p.Asn13827Ile