Canonical Allele Identifier: CA236089

Linked Data

ClinVar Variation Id: 191135
dbSNP Id: rs786205540

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579663C>A , CM000664.2:g.178579663C>A GRCh38
NC_000002.11:g.179444390C>A , CM000664.1:g.179444390C>A GRCh37
NC_000002.10:g.179152636C>A NCBI36
NG_011618.3:g.256140G>T , LRG_391:g.256140G>T
NG_051363.1:g.61837C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59830G>T (TTN) ENSP00000343764.6:p.Asp19944Tyr
ENST00000342175.11:c.40915G>T (TTN) ENSP00000340554.6:p.Asp13639Tyr
ENST00000359218.10:c.40714G>T (TTN) ENSP00000352154.5:p.Asp13572Tyr
ENST00000342175.10:c.40915G>T (TTN) ENSP00000340554.6:p.Asp13639Tyr
ENST00000342992.10:c.59830G>T (TTN) ENSP00000343764.6:p.Asp19944Tyr
ENST00000359218.9:c.40714G>T (TTN) ENSP00000352154.5:p.Asp13572Tyr
ENST00000460472.6:c.40339G>T (TTN) ENSP00000434586.1:p.Asp13447Tyr
ENST00000589042.5:c.67534G>T (TTN) MANE Select ENSP00000467141.1:p.Asp22512Tyr
ENST00000591111.5:c.62611G>T (TTN) ENSP00000465570.1:p.Asp20871Tyr
ENST00000615779.4:c.62611G>T (TTN) ENSP00000483597.1:p.Asp20871Tyr
NM_001256850.1:c.62611G>T (TTN) NP_001243779.1:p.Asp20871Tyr
NM_001267550.2:c.67534G>T (TTN) MANE Select NP_001254479.2:p.Asp22512Tyr
NM_003319.4:c.40339G>T (TTN) NP_003310.4:p.Asp13447Tyr
NM_133378.4:c.59830G>T (TTN) NP_596869.4:p.Asp19944Tyr
NM_133432.3:c.40714G>T (TTN) NP_597676.3:p.Asp13572Tyr
NM_133437.4:c.40915G>T (TTN) NP_597681.4:p.Asp13639Tyr
NR_038271.1:n.596+8214C>A (TTN-AS1)
NR_038272.1:n.2044-2909C>A (TTN-AS1)
XM_011511729.1:c.66631G>T (TTN) XP_011510031.1:p.Asp22211Tyr
XM_011511730.1:c.40525G>T (TTN) XP_011510032.1:p.Asp13509Tyr
XM_011511731.1:c.40384G>T (TTN) XP_011510033.1:p.Asp13462Tyr
XM_017004819.1:c.66427G>T (TTN) XP_016860308.1:p.Asp22143Tyr
XM_017004820.1:c.61825G>T (TTN) XP_016860309.1:p.Asp20609Tyr
XM_017004821.1:c.61822G>T (TTN) XP_016860310.1:p.Asp20608Tyr
XM_017004822.1:c.58864G>T (TTN) XP_016860311.1:p.Asp19622Tyr
XM_017004823.1:c.40480G>T (TTN) XP_016860312.1:p.Asp13494Tyr
XM_024453094.1:c.61975G>T (TTN) XP_024308862.1:p.Asp20659Tyr
XM_024453095.1:c.61972G>T (TTN) XP_024308863.1:p.Asp20658Tyr
XM_024453096.1:c.61405G>T (TTN) XP_024308864.1:p.Asp20469Tyr
XM_024453097.1:c.58747G>T (TTN) XP_024308865.1:p.Asp19583Tyr
XM_024453098.1:c.58666G>T (TTN) XP_024308866.1:p.Asp19556Tyr
XM_024453099.1:c.40429G>T (TTN) XP_024308867.1:p.Asp13477Tyr
XM_024453100.1:c.30283G>T (TTN) XP_024308868.1:p.Asp10095Tyr