Canonical Allele Identifier: CA349535032

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557707T>A , CM000664.2:g.178557707T>A GRCh38
NC_000002.11:g.179422434T>A , CM000664.1:g.179422434T>A GRCh37
NC_000002.10:g.179130680T>A NCBI36
NG_011618.3:g.278096A>T , LRG_391:g.278096A>T
NG_051363.1:g.39881T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79943A>T (TTN) ENSP00000343764.6:p.Asn26648Ile
ENST00000342175.11:c.61028A>T (TTN) ENSP00000340554.6:p.Asn20343Ile
ENST00000359218.10:c.60827A>T (TTN) ENSP00000352154.5:p.Asn20276Ile
ENST00000342175.10:c.61028A>T (TTN) ENSP00000340554.6:p.Asn20343Ile
ENST00000342992.10:c.79943A>T (TTN) ENSP00000343764.6:p.Asn26648Ile
ENST00000359218.9:c.60827A>T (TTN) ENSP00000352154.5:p.Asn20276Ile
ENST00000460472.6:c.60452A>T (TTN) ENSP00000434586.1:p.Asn20151Ile
ENST00000589042.5:c.87647A>T (TTN) MANE Select ENSP00000467141.1:p.Asn29216Ile
ENST00000591111.5:c.82724A>T (TTN) ENSP00000465570.1:p.Asn27575Ile
ENST00000615779.4:c.82724A>T (TTN) ENSP00000483597.1:p.Asn27575Ile
NM_001256850.1:c.82724A>T (TTN) NP_001243779.1:p.Asn27575Ile
NM_001267550.2:c.87647A>T (TTN) MANE Select NP_001254479.2:p.Asn29216Ile
NM_003319.4:c.60452A>T (TTN) NP_003310.4:p.Asn20151Ile
NM_133378.4:c.79943A>T (TTN) NP_596869.4:p.Asn26648Ile
NM_133432.3:c.60827A>T (TTN) NP_597676.3:p.Asn20276Ile
NM_133437.4:c.61028A>T (TTN) NP_597681.4:p.Asn20343Ile
NR_038271.1:n.447-13593T>A (TTN-AS1)
NR_038272.1:n.2043+15346T>A (TTN-AS1)
XM_011511729.1:c.86744A>T (TTN) XP_011510031.1:p.Asn28915Ile
XM_011511730.1:c.60638A>T (TTN) XP_011510032.1:p.Asn20213Ile
XM_011511731.1:c.60497A>T (TTN) XP_011510033.1:p.Asn20166Ile
XM_017004819.1:c.86540A>T (TTN) XP_016860308.1:p.Asn28847Ile
XM_017004820.1:c.81938A>T (TTN) XP_016860309.1:p.Asn27313Ile
XM_017004821.1:c.81935A>T (TTN) XP_016860310.1:p.Asn27312Ile
XM_017004822.1:c.78977A>T (TTN) XP_016860311.1:p.Asn26326Ile
XM_017004823.1:c.60593A>T (TTN) XP_016860312.1:p.Asn20198Ile
XM_024453094.1:c.82088A>T (TTN) XP_024308862.1:p.Asn27363Ile
XM_024453095.1:c.82085A>T (TTN) XP_024308863.1:p.Asn27362Ile
XM_024453096.1:c.81518A>T (TTN) XP_024308864.1:p.Asn27173Ile
XM_024453097.1:c.78860A>T (TTN) XP_024308865.1:p.Asn26287Ile
XM_024453098.1:c.78779A>T (TTN) XP_024308866.1:p.Asn26260Ile
XM_024453099.1:c.60542A>T (TTN) XP_024308867.1:p.Asn20181Ile
XM_024453100.1:c.50396A>T (TTN) XP_024308868.1:p.Asn16799Ile