Canonical Allele Identifier: CA349427102

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537165G>C , CM000664.2:g.178537165G>C GRCh38
NC_000002.11:g.179401892G>C , CM000664.1:g.179401892G>C GRCh37
NC_000002.10:g.179110138G>C NCBI36
NG_011618.3:g.298638C>G , LRG_391:g.298638C>G
NG_051363.1:g.19339G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92240C>G (TTN) ENSP00000343764.6:p.Pro30747Arg
ENST00000342175.11:c.73325C>G (TTN) ENSP00000340554.6:p.Pro24442Arg
ENST00000359218.10:c.73124C>G (TTN) ENSP00000352154.5:p.Pro24375Arg
ENST00000342175.10:c.73325C>G (TTN) ENSP00000340554.6:p.Pro24442Arg
ENST00000342992.10:c.92240C>G (TTN) ENSP00000343764.6:p.Pro30747Arg
ENST00000359218.9:c.73124C>G (TTN) ENSP00000352154.5:p.Pro24375Arg
ENST00000460472.6:c.72749C>G (TTN) ENSP00000434586.1:p.Pro24250Arg
ENST00000589042.5:c.99944C>G (TTN) MANE Select ENSP00000467141.1:p.Pro33315Arg
ENST00000591111.5:c.95021C>G (TTN) ENSP00000465570.1:p.Pro31674Arg
ENST00000615779.4:c.95021C>G (TTN) ENSP00000483597.1:p.Pro31674Arg
NM_001256850.1:c.95021C>G (TTN) NP_001243779.1:p.Pro31674Arg
NM_001267550.2:c.99944C>G (TTN) MANE Select NP_001254479.2:p.Pro33315Arg
NM_003319.4:c.72749C>G (TTN) NP_003310.4:p.Pro24250Arg
NM_133378.4:c.92240C>G (TTN) NP_596869.4:p.Pro30747Arg
NM_133432.3:c.73124C>G (TTN) NP_597676.3:p.Pro24375Arg
NM_133437.4:c.73325C>G (TTN) NP_597681.4:p.Pro24442Arg
NR_038271.1:n.446+13529G>C (TTN-AS1)
NR_038272.1:n.317-196G>C (TTN-AS1)
XM_011511729.1:c.99041C>G (TTN) XP_011510031.1:p.Pro33014Arg
XM_011511730.1:c.72935C>G (TTN) XP_011510032.1:p.Pro24312Arg
XM_011511731.1:c.72794C>G (TTN) XP_011510033.1:p.Pro24265Arg
XM_017004819.1:c.98837C>G (TTN) XP_016860308.1:p.Pro32946Arg
XM_017004820.1:c.94235C>G (TTN) XP_016860309.1:p.Pro31412Arg
XM_017004821.1:c.94232C>G (TTN) XP_016860310.1:p.Pro31411Arg
XM_017004822.1:c.91274C>G (TTN) XP_016860311.1:p.Pro30425Arg
XM_017004823.1:c.72890C>G (TTN) XP_016860312.1:p.Pro24297Arg
XM_024453094.1:c.94385C>G (TTN) XP_024308862.1:p.Pro31462Arg
XM_024453095.1:c.94382C>G (TTN) XP_024308863.1:p.Pro31461Arg
XM_024453096.1:c.93815C>G (TTN) XP_024308864.1:p.Pro31272Arg
XM_024453097.1:c.91157C>G (TTN) XP_024308865.1:p.Pro30386Arg
XM_024453098.1:c.91076C>G (TTN) XP_024308866.1:p.Pro30359Arg
XM_024453099.1:c.72839C>G (TTN) XP_024308867.1:p.Pro24280Arg
XM_024453100.1:c.62693C>G (TTN) XP_024308868.1:p.Pro20898Arg