Canonical Allele Identifier: CA349535033

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79943A>G (TTN) ENSP00000343764.6:p.Asn26648Ser
ENST00000342175.11:c.61028A>G (TTN) ENSP00000340554.6:p.Asn20343Ser
ENST00000359218.10:c.60827A>G (TTN) ENSP00000352154.5:p.Asn20276Ser
ENST00000342175.10:c.61028A>G (TTN) ENSP00000340554.6:p.Asn20343Ser
ENST00000342992.10:c.79943A>G (TTN) ENSP00000343764.6:p.Asn26648Ser
ENST00000359218.9:c.60827A>G (TTN) ENSP00000352154.5:p.Asn20276Ser
ENST00000460472.6:c.60452A>G (TTN) ENSP00000434586.1:p.Asn20151Ser
ENST00000589042.5:c.87647A>G (TTN) MANE Select ENSP00000467141.1:p.Asn29216Ser
ENST00000591111.5:c.82724A>G (TTN) ENSP00000465570.1:p.Asn27575Ser
ENST00000615779.4:c.82724A>G (TTN) ENSP00000483597.1:p.Asn27575Ser
NM_001256850.1:c.82724A>G (TTN) NP_001243779.1:p.Asn27575Ser
NM_001267550.2:c.87647A>G (TTN) MANE Select NP_001254479.2:p.Asn29216Ser
NM_003319.4:c.60452A>G (TTN) NP_003310.4:p.Asn20151Ser
NM_133378.4:c.79943A>G (TTN) NP_596869.4:p.Asn26648Ser
NM_133432.3:c.60827A>G (TTN) NP_597676.3:p.Asn20276Ser
NM_133437.4:c.61028A>G (TTN) NP_597681.4:p.Asn20343Ser
NR_038271.1:n.447-13593T>C (TTN-AS1)
NR_038272.1:n.2043+15346T>C (TTN-AS1)
XM_011511729.1:c.86744A>G (TTN) XP_011510031.1:p.Asn28915Ser
XM_011511730.1:c.60638A>G (TTN) XP_011510032.1:p.Asn20213Ser
XM_011511731.1:c.60497A>G (TTN) XP_011510033.1:p.Asn20166Ser
XM_017004819.1:c.86540A>G (TTN) XP_016860308.1:p.Asn28847Ser
XM_017004820.1:c.81938A>G (TTN) XP_016860309.1:p.Asn27313Ser
XM_017004821.1:c.81935A>G (TTN) XP_016860310.1:p.Asn27312Ser
XM_017004822.1:c.78977A>G (TTN) XP_016860311.1:p.Asn26326Ser
XM_017004823.1:c.60593A>G (TTN) XP_016860312.1:p.Asn20198Ser
XM_024453094.1:c.82088A>G (TTN) XP_024308862.1:p.Asn27363Ser
XM_024453095.1:c.82085A>G (TTN) XP_024308863.1:p.Asn27362Ser
XM_024453096.1:c.81518A>G (TTN) XP_024308864.1:p.Asn27173Ser
XM_024453097.1:c.78860A>G (TTN) XP_024308865.1:p.Asn26287Ser
XM_024453098.1:c.78779A>G (TTN) XP_024308866.1:p.Asn26260Ser
XM_024453099.1:c.60542A>G (TTN) XP_024308867.1:p.Asn20181Ser
XM_024453100.1:c.50396A>G (TTN) XP_024308868.1:p.Asn16799Ser