Canonical Allele Identifier: CA349618097

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618046C>T , CM000664.2:g.178618046C>T GRCh38
NC_000002.11:g.179482773C>T , CM000664.1:g.179482773C>T GRCh37
NC_000002.10:g.179191018C>T NCBI36
NG_011618.3:g.217757G>A , LRG_391:g.217757G>A
NG_051363.1:g.100220C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39601G>A (TTN) ENSP00000343764.6:p.Asp13201Asn
ENST00000342175.11:c.20686G>A (TTN) ENSP00000340554.6:p.Asp6896Asn
ENST00000359218.10:c.20485G>A (TTN) ENSP00000352154.5:p.Asp6829Asn
ENST00000342175.10:c.20686G>A (TTN) ENSP00000340554.6:p.Asp6896Asn
ENST00000342992.10:c.39601G>A (TTN) ENSP00000343764.6:p.Asp13201Asn
ENST00000359218.9:c.20485G>A (TTN) ENSP00000352154.5:p.Asp6829Asn
ENST00000460472.6:c.20110G>A (TTN) ENSP00000434586.1:p.Asp6704Asn
ENST00000589042.5:c.47305G>A (TTN) MANE Select ENSP00000467141.1:p.Asp15769Asn
ENST00000591111.5:c.42382G>A (TTN) ENSP00000465570.1:p.Asp14128Asn
ENST00000615779.4:c.42382G>A (TTN) ENSP00000483597.1:p.Asp14128Asn
NM_001256850.1:c.42382G>A (TTN) NP_001243779.1:p.Asp14128Asn
NM_001267550.2:c.47305G>A (TTN) MANE Select NP_001254479.2:p.Asp15769Asn
NM_003319.4:c.20110G>A (TTN) NP_003310.4:p.Asp6704Asn
NM_133378.4:c.39601G>A (TTN) NP_596869.4:p.Asp13201Asn
NM_133432.3:c.20485G>A (TTN) NP_597676.3:p.Asp6829Asn
NM_133437.4:c.20686G>A (TTN) NP_597681.4:p.Asp6896Asn
NR_038271.1:n.1605-1707C>T (TTN-AS1)
XM_011511729.1:c.46402G>A (TTN) XP_011510031.1:p.Asp15468Asn
XM_011511730.1:c.20296G>A (TTN) XP_011510032.1:p.Asp6766Asn
XM_011511731.1:c.20155G>A (TTN) XP_011510033.1:p.Asp6719Asn
XM_017004819.1:c.46198G>A (TTN) XP_016860308.1:p.Asp15400Asn
XM_017004820.1:c.41596G>A (TTN) XP_016860309.1:p.Asp13866Asn
XM_017004821.1:c.41593G>A (TTN) XP_016860310.1:p.Asp13865Asn
XM_017004822.1:c.38635G>A (TTN) XP_016860311.1:p.Asp12879Asn
XM_017004823.1:c.20251G>A (TTN) XP_016860312.1:p.Asp6751Asn
XM_024453094.1:c.41746G>A (TTN) XP_024308862.1:p.Asp13916Asn
XM_024453095.1:c.41743G>A (TTN) XP_024308863.1:p.Asp13915Asn
XM_024453096.1:c.41176G>A (TTN) XP_024308864.1:p.Asp13726Asn
XM_024453097.1:c.38518G>A (TTN) XP_024308865.1:p.Asp12840Asn
XM_024453098.1:c.38437G>A (TTN) XP_024308866.1:p.Asp12813Asn
XM_024453099.1:c.20200G>A (TTN) XP_024308867.1:p.Asp6734Asn
XM_024453100.1:c.10054G>A (TTN) XP_024308868.1:p.Asp3352Asn