Canonical Allele Identifier: CA349456366

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544344T>G , CM000664.2:g.178544344T>G GRCh38
NC_000002.11:g.179409071T>G , CM000664.1:g.179409071T>G GRCh37
NC_000002.10:g.179117317T>G NCBI36
NG_011618.3:g.291459A>C , LRG_391:g.291459A>C
NG_051363.1:g.26518T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88181A>C (TTN) ENSP00000343764.6:p.Asn29394Thr
ENST00000342175.11:c.69266A>C (TTN) ENSP00000340554.6:p.Asn23089Thr
ENST00000359218.10:c.69065A>C (TTN) ENSP00000352154.5:p.Asn23022Thr
ENST00000342175.10:c.69266A>C (TTN) ENSP00000340554.6:p.Asn23089Thr
ENST00000342992.10:c.88181A>C (TTN) ENSP00000343764.6:p.Asn29394Thr
ENST00000359218.9:c.69065A>C (TTN) ENSP00000352154.5:p.Asn23022Thr
ENST00000460472.6:c.68690A>C (TTN) ENSP00000434586.1:p.Asn22897Thr
ENST00000589042.5:c.95885A>C (TTN) MANE Select ENSP00000467141.1:p.Asn31962Thr
ENST00000591111.5:c.90962A>C (TTN) ENSP00000465570.1:p.Asn30321Thr
ENST00000615779.4:c.90962A>C (TTN) ENSP00000483597.1:p.Asn30321Thr
NM_001256850.1:c.90962A>C (TTN) NP_001243779.1:p.Asn30321Thr
NM_001267550.2:c.95885A>C (TTN) MANE Select NP_001254479.2:p.Asn31962Thr
NM_003319.4:c.68690A>C (TTN) NP_003310.4:p.Asn22897Thr
NM_133378.4:c.88181A>C (TTN) NP_596869.4:p.Asn29394Thr
NM_133432.3:c.69065A>C (TTN) NP_597676.3:p.Asn23022Thr
NM_133437.4:c.69266A>C (TTN) NP_597681.4:p.Asn23089Thr
NR_038271.1:n.446+20708T>G (TTN-AS1)
NR_038272.1:n.2043+1983T>G (TTN-AS1)
XM_011511729.1:c.94982A>C (TTN) XP_011510031.1:p.Asn31661Thr
XM_011511730.1:c.68876A>C (TTN) XP_011510032.1:p.Asn22959Thr
XM_011511731.1:c.68735A>C (TTN) XP_011510033.1:p.Asn22912Thr
XM_017004819.1:c.94778A>C (TTN) XP_016860308.1:p.Asn31593Thr
XM_017004820.1:c.90176A>C (TTN) XP_016860309.1:p.Asn30059Thr
XM_017004821.1:c.90173A>C (TTN) XP_016860310.1:p.Asn30058Thr
XM_017004822.1:c.87215A>C (TTN) XP_016860311.1:p.Asn29072Thr
XM_017004823.1:c.68831A>C (TTN) XP_016860312.1:p.Asn22944Thr
XM_024453094.1:c.90326A>C (TTN) XP_024308862.1:p.Asn30109Thr
XM_024453095.1:c.90323A>C (TTN) XP_024308863.1:p.Asn30108Thr
XM_024453096.1:c.89756A>C (TTN) XP_024308864.1:p.Asn29919Thr
XM_024453097.1:c.87098A>C (TTN) XP_024308865.1:p.Asn29033Thr
XM_024453098.1:c.87017A>C (TTN) XP_024308866.1:p.Asn29006Thr
XM_024453099.1:c.68780A>C (TTN) XP_024308867.1:p.Asn22927Thr
XM_024453100.1:c.58634A>C (TTN) XP_024308868.1:p.Asn19545Thr