Canonical Allele Identifier: CA349585545

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565253G>T , CM000664.2:g.178565253G>T GRCh38
NC_000002.11:g.179429980G>T , CM000664.1:g.179429980G>T GRCh37
NC_000002.10:g.179138226G>T NCBI36
NG_011618.3:g.270550C>A , LRG_391:g.270550C>A
NG_051363.1:g.47427G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73175C>A (TTN) ENSP00000343764.6:p.Thr24392Lys
ENST00000342175.11:c.54260C>A (TTN) ENSP00000340554.6:p.Thr18087Lys
ENST00000359218.10:c.54059C>A (TTN) ENSP00000352154.5:p.Thr18020Lys
ENST00000342175.10:c.54260C>A (TTN) ENSP00000340554.6:p.Thr18087Lys
ENST00000342992.10:c.73175C>A (TTN) ENSP00000343764.6:p.Thr24392Lys
ENST00000359218.9:c.54059C>A (TTN) ENSP00000352154.5:p.Thr18020Lys
ENST00000460472.6:c.53684C>A (TTN) ENSP00000434586.1:p.Thr17895Lys
ENST00000589042.5:c.80879C>A (TTN) MANE Select ENSP00000467141.1:p.Thr26960Lys
ENST00000591111.5:c.75956C>A (TTN) ENSP00000465570.1:p.Thr25319Lys
ENST00000615779.4:c.75956C>A (TTN) ENSP00000483597.1:p.Thr25319Lys
NM_001256850.1:c.75956C>A (TTN) NP_001243779.1:p.Thr25319Lys
NM_001267550.2:c.80879C>A (TTN) MANE Select NP_001254479.2:p.Thr26960Lys
NM_003319.4:c.53684C>A (TTN) NP_003310.4:p.Thr17895Lys
NM_133378.4:c.73175C>A (TTN) NP_596869.4:p.Thr24392Lys
NM_133432.3:c.54059C>A (TTN) NP_597676.3:p.Thr18020Lys
NM_133437.4:c.54260C>A (TTN) NP_597681.4:p.Thr18087Lys
NR_038271.1:n.447-6047G>T (TTN-AS1)
NR_038272.1:n.2044-17319G>T (TTN-AS1)
XM_011511729.1:c.79976C>A (TTN) XP_011510031.1:p.Thr26659Lys
XM_011511730.1:c.53870C>A (TTN) XP_011510032.1:p.Thr17957Lys
XM_011511731.1:c.53729C>A (TTN) XP_011510033.1:p.Thr17910Lys
XM_017004819.1:c.79772C>A (TTN) XP_016860308.1:p.Thr26591Lys
XM_017004820.1:c.75170C>A (TTN) XP_016860309.1:p.Thr25057Lys
XM_017004821.1:c.75167C>A (TTN) XP_016860310.1:p.Thr25056Lys
XM_017004822.1:c.72209C>A (TTN) XP_016860311.1:p.Thr24070Lys
XM_017004823.1:c.53825C>A (TTN) XP_016860312.1:p.Thr17942Lys
XM_024453094.1:c.75320C>A (TTN) XP_024308862.1:p.Thr25107Lys
XM_024453095.1:c.75317C>A (TTN) XP_024308863.1:p.Thr25106Lys
XM_024453096.1:c.74750C>A (TTN) XP_024308864.1:p.Thr24917Lys
XM_024453097.1:c.72092C>A (TTN) XP_024308865.1:p.Thr24031Lys
XM_024453098.1:c.72011C>A (TTN) XP_024308866.1:p.Thr24004Lys
XM_024453099.1:c.53774C>A (TTN) XP_024308867.1:p.Thr17925Lys
XM_024453100.1:c.43628C>A (TTN) XP_024308868.1:p.Thr14543Lys