Canonical Allele Identifier: CA1988657

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560798C>T , CM000664.2:g.178560798C>T GRCh38
NC_000002.11:g.179425525C>T , CM000664.1:g.179425525C>T GRCh37
NC_000002.10:g.179133771C>T NCBI36
NG_011618.3:g.275005G>A , LRG_391:g.275005G>A
NG_051363.1:g.42972C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85334G>A (TTN) MANE Select NP_001254479.2:p.Cys28445Tyr
ENST00000589042.5:c.85334G>A (TTN) MANE Select ENSP00000467141.1:p.Cys28445Tyr
NM_001256850.1:c.80411G>A (TTN) NP_001243779.1:p.Cys26804Tyr
NM_003319.4:c.58139G>A (TTN) NP_003310.4:p.Cys19380Tyr
NM_133378.4:c.77630G>A (TTN) NP_596869.4:p.Cys25877Tyr
NM_133432.3:c.58514G>A (TTN) NP_597676.3:p.Cys19505Tyr
NM_133437.4:c.58715G>A (TTN) NP_597681.4:p.Cys19572Tyr
NR_038271.1:n.447-10502C>T (TTN-AS1)
NR_038272.1:n.2043+18437C>T (TTN-AS1)
ENST00000342175.10:c.58715G>A (TTN) ENSP00000340554.6:p.Cys19572Tyr
ENST00000342175.11:c.58715G>A (TTN) ENSP00000340554.6:p.Cys19572Tyr
ENST00000342992.10:c.77630G>A (TTN) ENSP00000343764.6:p.Cys25877Tyr
ENST00000342992.11:c.77630G>A (TTN) ENSP00000343764.6:p.Cys25877Tyr
ENST00000359218.10:c.58514G>A (TTN) ENSP00000352154.5:p.Cys19505Tyr
ENST00000359218.9:c.58514G>A (TTN) ENSP00000352154.5:p.Cys19505Tyr
ENST00000460472.6:c.58139G>A (TTN) ENSP00000434586.1:p.Cys19380Tyr
ENST00000591111.5:c.80411G>A (TTN) ENSP00000465570.1:p.Cys26804Tyr
ENST00000615779.4:c.80411G>A (TTN) ENSP00000483597.1:p.Cys26804Tyr
XM_011511729.1:c.84431G>A (TTN) XP_011510031.1:p.Cys28144Tyr
XM_011511730.1:c.58325G>A (TTN) XP_011510032.1:p.Cys19442Tyr
XM_011511731.1:c.58184G>A (TTN) XP_011510033.1:p.Cys19395Tyr
XM_017004819.1:c.84227G>A (TTN) XP_016860308.1:p.Cys28076Tyr
XM_017004820.1:c.79625G>A (TTN) XP_016860309.1:p.Cys26542Tyr
XM_017004821.1:c.79622G>A (TTN) XP_016860310.1:p.Cys26541Tyr
XM_017004822.1:c.76664G>A (TTN) XP_016860311.1:p.Cys25555Tyr
XM_017004823.1:c.58280G>A (TTN) XP_016860312.1:p.Cys19427Tyr
XM_024453094.1:c.79775G>A (TTN) XP_024308862.1:p.Cys26592Tyr
XM_024453095.1:c.79772G>A (TTN) XP_024308863.1:p.Cys26591Tyr
XM_024453096.1:c.79205G>A (TTN) XP_024308864.1:p.Cys26402Tyr
XM_024453097.1:c.76547G>A (TTN) XP_024308865.1:p.Cys25516Tyr
XM_024453098.1:c.76466G>A (TTN) XP_024308866.1:p.Cys25489Tyr
XM_024453099.1:c.58229G>A (TTN) XP_024308867.1:p.Cys19410Tyr
XM_024453100.1:c.48083G>A (TTN) XP_024308868.1:p.Cys16028Tyr