Canonical Allele Identifier: CA349398265

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527060T>G , CM000664.2:g.178527060T>G GRCh38
NC_000002.11:g.179391787T>G , CM000664.1:g.179391787T>G GRCh37
NC_000002.10:g.179100033T>G NCBI36
NG_011618.3:g.308743A>C , LRG_391:g.308743A>C
NG_051363.1:g.9234T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100224A>C (TTN) ENSP00000343764.6:p.Glu33408Asp
ENST00000342175.11:c.81309A>C (TTN) ENSP00000340554.6:p.Glu27103Asp
ENST00000359218.10:c.81108A>C (TTN) ENSP00000352154.5:p.Glu27036Asp
ENST00000342175.10:c.81309A>C (TTN) ENSP00000340554.6:p.Glu27103Asp
ENST00000342992.10:c.100224A>C (TTN) ENSP00000343764.6:p.Glu33408Asp
ENST00000359218.9:c.81108A>C (TTN) ENSP00000352154.5:p.Glu27036Asp
ENST00000460472.6:c.80733A>C (TTN) ENSP00000434586.1:p.Glu26911Asp
ENST00000589042.5:c.107928A>C (TTN) MANE Select ENSP00000467141.1:p.Glu35976Asp
ENST00000591111.5:c.103005A>C (TTN) ENSP00000465570.1:p.Glu34335Asp
ENST00000615779.4:c.103005A>C (TTN) ENSP00000483597.1:p.Glu34335Asp
NM_001256850.1:c.103005A>C (TTN) NP_001243779.1:p.Glu34335Asp
NM_001267550.2:c.107928A>C (TTN) MANE Select NP_001254479.2:p.Glu35976Asp
NM_003319.4:c.80733A>C (TTN) NP_003310.4:p.Glu26911Asp
NM_133378.4:c.100224A>C (TTN) NP_596869.4:p.Glu33408Asp
NM_133432.3:c.81108A>C (TTN) NP_597676.3:p.Glu27036Asp
NM_133437.4:c.81309A>C (TTN) NP_597681.4:p.Glu27103Asp
NR_038271.1:n.446+3424T>G (TTN-AS1)
NR_038272.1:n.219+3424T>G (TTN-AS1)
XM_011511729.1:c.107025A>C (TTN) XP_011510031.1:p.Glu35675Asp
XM_011511730.1:c.80919A>C (TTN) XP_011510032.1:p.Glu26973Asp
XM_011511731.1:c.80778A>C (TTN) XP_011510033.1:p.Glu26926Asp
XM_017004819.1:c.106821A>C (TTN) XP_016860308.1:p.Glu35607Asp
XM_017004820.1:c.102219A>C (TTN) XP_016860309.1:p.Glu34073Asp
XM_017004821.1:c.102216A>C (TTN) XP_016860310.1:p.Glu34072Asp
XM_017004822.1:c.99258A>C (TTN) XP_016860311.1:p.Glu33086Asp
XM_017004823.1:c.80874A>C (TTN) XP_016860312.1:p.Glu26958Asp
XM_024453094.1:c.102369A>C (TTN) XP_024308862.1:p.Glu34123Asp
XM_024453095.1:c.102366A>C (TTN) XP_024308863.1:p.Glu34122Asp
XM_024453096.1:c.101799A>C (TTN) XP_024308864.1:p.Glu33933Asp
XM_024453097.1:c.99141A>C (TTN) XP_024308865.1:p.Glu33047Asp
XM_024453098.1:c.99060A>C (TTN) XP_024308866.1:p.Glu33020Asp
XM_024453099.1:c.80823A>C (TTN) XP_024308867.1:p.Glu26941Asp
XM_024453100.1:c.70677A>C (TTN) XP_024308868.1:p.Glu23559Asp