Canonical Allele Identifier: CA349427834

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537592T>A , CM000664.2:g.178537592T>A GRCh38
NC_000002.11:g.179402319T>A , CM000664.1:g.179402319T>A GRCh37
NC_000002.10:g.179110565T>A NCBI36
NG_011618.3:g.298211A>T , LRG_391:g.298211A>T
NG_051363.1:g.19766T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91911A>T (TTN) ENSP00000343764.6:p.Lys30637Asn
ENST00000342175.11:c.72996A>T (TTN) ENSP00000340554.6:p.Lys24332Asn
ENST00000359218.10:c.72795A>T (TTN) ENSP00000352154.5:p.Lys24265Asn
ENST00000342175.10:c.72996A>T (TTN) ENSP00000340554.6:p.Lys24332Asn
ENST00000342992.10:c.91911A>T (TTN) ENSP00000343764.6:p.Lys30637Asn
ENST00000359218.9:c.72795A>T (TTN) ENSP00000352154.5:p.Lys24265Asn
ENST00000460472.6:c.72420A>T (TTN) ENSP00000434586.1:p.Lys24140Asn
ENST00000589042.5:c.99615A>T (TTN) MANE Select ENSP00000467141.1:p.Lys33205Asn
ENST00000591111.5:c.94692A>T (TTN) ENSP00000465570.1:p.Lys31564Asn
ENST00000615779.4:c.94692A>T (TTN) ENSP00000483597.1:p.Lys31564Asn
NM_001256850.1:c.94692A>T (TTN) NP_001243779.1:p.Lys31564Asn
NM_001267550.2:c.99615A>T (TTN) MANE Select NP_001254479.2:p.Lys33205Asn
NM_003319.4:c.72420A>T (TTN) NP_003310.4:p.Lys24140Asn
NM_133378.4:c.91911A>T (TTN) NP_596869.4:p.Lys30637Asn
NM_133432.3:c.72795A>T (TTN) NP_597676.3:p.Lys24265Asn
NM_133437.4:c.72996A>T (TTN) NP_597681.4:p.Lys24332Asn
NR_038271.1:n.446+13956T>A (TTN-AS1)
NR_038272.1:n.548T>A (TTN-AS1)
XM_011511729.1:c.98712A>T (TTN) XP_011510031.1:p.Lys32904Asn
XM_011511730.1:c.72606A>T (TTN) XP_011510032.1:p.Lys24202Asn
XM_011511731.1:c.72465A>T (TTN) XP_011510033.1:p.Lys24155Asn
XM_017004819.1:c.98508A>T (TTN) XP_016860308.1:p.Lys32836Asn
XM_017004820.1:c.93906A>T (TTN) XP_016860309.1:p.Lys31302Asn
XM_017004821.1:c.93903A>T (TTN) XP_016860310.1:p.Lys31301Asn
XM_017004822.1:c.90945A>T (TTN) XP_016860311.1:p.Lys30315Asn
XM_017004823.1:c.72561A>T (TTN) XP_016860312.1:p.Lys24187Asn
XM_024453094.1:c.94056A>T (TTN) XP_024308862.1:p.Lys31352Asn
XM_024453095.1:c.94053A>T (TTN) XP_024308863.1:p.Lys31351Asn
XM_024453096.1:c.93486A>T (TTN) XP_024308864.1:p.Lys31162Asn
XM_024453097.1:c.90828A>T (TTN) XP_024308865.1:p.Lys30276Asn
XM_024453098.1:c.90747A>T (TTN) XP_024308866.1:p.Lys30249Asn
XM_024453099.1:c.72510A>T (TTN) XP_024308867.1:p.Lys24170Asn
XM_024453100.1:c.62364A>T (TTN) XP_024308868.1:p.Lys20788Asn