Canonical Allele Identifier: CA349471273

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546743G>A , CM000664.2:g.178546743G>A GRCh38
NC_000002.11:g.179411470G>A , CM000664.1:g.179411470G>A GRCh37
NC_000002.10:g.179119716G>A NCBI36
NG_011618.3:g.289060C>T , LRG_391:g.289060C>T
NG_051363.1:g.28917G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86981C>T (TTN) ENSP00000343764.6:p.Thr28994Ile
ENST00000342175.11:c.68066C>T (TTN) ENSP00000340554.6:p.Thr22689Ile
ENST00000359218.10:c.67865C>T (TTN) ENSP00000352154.5:p.Thr22622Ile
ENST00000342175.10:c.68066C>T (TTN) ENSP00000340554.6:p.Thr22689Ile
ENST00000342992.10:c.86981C>T (TTN) ENSP00000343764.6:p.Thr28994Ile
ENST00000359218.9:c.67865C>T (TTN) ENSP00000352154.5:p.Thr22622Ile
ENST00000460472.6:c.67490C>T (TTN) ENSP00000434586.1:p.Thr22497Ile
ENST00000589042.5:c.94685C>T (TTN) MANE Select ENSP00000467141.1:p.Thr31562Ile
ENST00000591111.5:c.89762C>T (TTN) ENSP00000465570.1:p.Thr29921Ile
ENST00000615779.4:c.89762C>T (TTN) ENSP00000483597.1:p.Thr29921Ile
NM_001256850.1:c.89762C>T (TTN) NP_001243779.1:p.Thr29921Ile
NM_001267550.2:c.94685C>T (TTN) MANE Select NP_001254479.2:p.Thr31562Ile
NM_003319.4:c.67490C>T (TTN) NP_003310.4:p.Thr22497Ile
NM_133378.4:c.86981C>T (TTN) NP_596869.4:p.Thr28994Ile
NM_133432.3:c.67865C>T (TTN) NP_597676.3:p.Thr22622Ile
NM_133437.4:c.68066C>T (TTN) NP_597681.4:p.Thr22689Ile
NR_038271.1:n.446+23107G>A (TTN-AS1)
NR_038272.1:n.2043+4382G>A (TTN-AS1)
XM_011511729.1:c.93782C>T (TTN) XP_011510031.1:p.Thr31261Ile
XM_011511730.1:c.67676C>T (TTN) XP_011510032.1:p.Thr22559Ile
XM_011511731.1:c.67535C>T (TTN) XP_011510033.1:p.Thr22512Ile
XM_017004819.1:c.93578C>T (TTN) XP_016860308.1:p.Thr31193Ile
XM_017004820.1:c.88976C>T (TTN) XP_016860309.1:p.Thr29659Ile
XM_017004821.1:c.88973C>T (TTN) XP_016860310.1:p.Thr29658Ile
XM_017004822.1:c.86015C>T (TTN) XP_016860311.1:p.Thr28672Ile
XM_017004823.1:c.67631C>T (TTN) XP_016860312.1:p.Thr22544Ile
XM_024453094.1:c.89126C>T (TTN) XP_024308862.1:p.Thr29709Ile
XM_024453095.1:c.89123C>T (TTN) XP_024308863.1:p.Thr29708Ile
XM_024453096.1:c.88556C>T (TTN) XP_024308864.1:p.Thr29519Ile
XM_024453097.1:c.85898C>T (TTN) XP_024308865.1:p.Thr28633Ile
XM_024453098.1:c.85817C>T (TTN) XP_024308866.1:p.Thr28606Ile
XM_024453099.1:c.67580C>T (TTN) XP_024308867.1:p.Thr22527Ile
XM_024453100.1:c.57434C>T (TTN) XP_024308868.1:p.Thr19145Ile