Canonical Allele Identifier: CA349612830

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569096T>G , CM000664.2:g.178569096T>G GRCh38
NC_000002.11:g.179433823T>G , CM000664.1:g.179433823T>G GRCh37
NC_000002.10:g.179142069T>G NCBI36
NG_011618.3:g.266707A>C , LRG_391:g.266707A>C
NG_051363.1:g.51270T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69332A>C (TTN) ENSP00000343764.6:p.Asn23111Thr
ENST00000342175.11:c.50417A>C (TTN) ENSP00000340554.6:p.Asn16806Thr
ENST00000359218.10:c.50216A>C (TTN) ENSP00000352154.5:p.Asn16739Thr
ENST00000342175.10:c.50417A>C (TTN) ENSP00000340554.6:p.Asn16806Thr
ENST00000342992.10:c.69332A>C (TTN) ENSP00000343764.6:p.Asn23111Thr
ENST00000359218.9:c.50216A>C (TTN) ENSP00000352154.5:p.Asn16739Thr
ENST00000460472.6:c.49841A>C (TTN) ENSP00000434586.1:p.Asn16614Thr
ENST00000589042.5:c.77036A>C (TTN) MANE Select ENSP00000467141.1:p.Asn25679Thr
ENST00000591111.5:c.72113A>C (TTN) ENSP00000465570.1:p.Asn24038Thr
ENST00000615779.4:c.72113A>C (TTN) ENSP00000483597.1:p.Asn24038Thr
NM_001256850.1:c.72113A>C (TTN) NP_001243779.1:p.Asn24038Thr
NM_001267550.2:c.77036A>C (TTN) MANE Select NP_001254479.2:p.Asn25679Thr
NM_003319.4:c.49841A>C (TTN) NP_003310.4:p.Asn16614Thr
NM_133378.4:c.69332A>C (TTN) NP_596869.4:p.Asn23111Thr
NM_133432.3:c.50216A>C (TTN) NP_597676.3:p.Asn16739Thr
NM_133437.4:c.50417A>C (TTN) NP_597681.4:p.Asn16806Thr
NR_038271.1:n.447-2204T>G (TTN-AS1)
NR_038272.1:n.2044-13476T>G (TTN-AS1)
XM_011511729.1:c.76133A>C (TTN) XP_011510031.1:p.Asn25378Thr
XM_011511730.1:c.50027A>C (TTN) XP_011510032.1:p.Asn16676Thr
XM_011511731.1:c.49886A>C (TTN) XP_011510033.1:p.Asn16629Thr
XM_017004819.1:c.75929A>C (TTN) XP_016860308.1:p.Asn25310Thr
XM_017004820.1:c.71327A>C (TTN) XP_016860309.1:p.Asn23776Thr
XM_017004821.1:c.71324A>C (TTN) XP_016860310.1:p.Asn23775Thr
XM_017004822.1:c.68366A>C (TTN) XP_016860311.1:p.Asn22789Thr
XM_017004823.1:c.49982A>C (TTN) XP_016860312.1:p.Asn16661Thr
XM_024453094.1:c.71477A>C (TTN) XP_024308862.1:p.Asn23826Thr
XM_024453095.1:c.71474A>C (TTN) XP_024308863.1:p.Asn23825Thr
XM_024453096.1:c.70907A>C (TTN) XP_024308864.1:p.Asn23636Thr
XM_024453097.1:c.68249A>C (TTN) XP_024308865.1:p.Asn22750Thr
XM_024453098.1:c.68168A>C (TTN) XP_024308866.1:p.Asn22723Thr
XM_024453099.1:c.49931A>C (TTN) XP_024308867.1:p.Asn16644Thr
XM_024453100.1:c.39785A>C (TTN) XP_024308868.1:p.Asn13262Thr