Canonical Allele Identifier: CA349608968

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615361C>G , CM000664.2:g.178615361C>G GRCh38
NC_000002.11:g.179480088C>G , CM000664.1:g.179480088C>G GRCh37
NC_000002.10:g.179188333C>G NCBI36
NG_011618.3:g.220442G>C , LRG_391:g.220442G>C
NG_051363.1:g.97535C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40880G>C (TTN) ENSP00000343764.6:p.Cys13627Ser
ENST00000342175.11:c.21965G>C (TTN) ENSP00000340554.6:p.Cys7322Ser
ENST00000359218.10:c.21764G>C (TTN) ENSP00000352154.5:p.Cys7255Ser
ENST00000342175.10:c.21965G>C (TTN) ENSP00000340554.6:p.Cys7322Ser
ENST00000342992.10:c.40880G>C (TTN) ENSP00000343764.6:p.Cys13627Ser
ENST00000359218.9:c.21764G>C (TTN) ENSP00000352154.5:p.Cys7255Ser
ENST00000460472.6:c.21389G>C (TTN) ENSP00000434586.1:p.Cys7130Ser
ENST00000589042.5:c.48584G>C (TTN) MANE Select ENSP00000467141.1:p.Cys16195Ser
ENST00000591111.5:c.43661G>C (TTN) ENSP00000465570.1:p.Cys14554Ser
ENST00000615779.4:c.43661G>C (TTN) ENSP00000483597.1:p.Cys14554Ser
NM_001256850.1:c.43661G>C (TTN) NP_001243779.1:p.Cys14554Ser
NM_001267550.2:c.48584G>C (TTN) MANE Select NP_001254479.2:p.Cys16195Ser
NM_003319.4:c.21389G>C (TTN) NP_003310.4:p.Cys7130Ser
NM_133378.4:c.40880G>C (TTN) NP_596869.4:p.Cys13627Ser
NM_133432.3:c.21764G>C (TTN) NP_597676.3:p.Cys7255Ser
NM_133437.4:c.21965G>C (TTN) NP_597681.4:p.Cys7322Ser
NR_038271.1:n.1591C>G (TTN-AS1)
XM_011511729.1:c.47681G>C (TTN) XP_011510031.1:p.Cys15894Ser
XM_011511730.1:c.21575G>C (TTN) XP_011510032.1:p.Cys7192Ser
XM_011511731.1:c.21434G>C (TTN) XP_011510033.1:p.Cys7145Ser
XM_017004819.1:c.47477G>C (TTN) XP_016860308.1:p.Cys15826Ser
XM_017004820.1:c.42875G>C (TTN) XP_016860309.1:p.Cys14292Ser
XM_017004821.1:c.42872G>C (TTN) XP_016860310.1:p.Cys14291Ser
XM_017004822.1:c.39914G>C (TTN) XP_016860311.1:p.Cys13305Ser
XM_017004823.1:c.21530G>C (TTN) XP_016860312.1:p.Cys7177Ser
XM_024453094.1:c.43025G>C (TTN) XP_024308862.1:p.Cys14342Ser
XM_024453095.1:c.43022G>C (TTN) XP_024308863.1:p.Cys14341Ser
XM_024453096.1:c.42455G>C (TTN) XP_024308864.1:p.Cys14152Ser
XM_024453097.1:c.39797G>C (TTN) XP_024308865.1:p.Cys13266Ser
XM_024453098.1:c.39716G>C (TTN) XP_024308866.1:p.Cys13239Ser
XM_024453099.1:c.21479G>C (TTN) XP_024308867.1:p.Cys7160Ser
XM_024453100.1:c.11333G>C (TTN) XP_024308868.1:p.Cys3778Ser