Canonical Allele Identifier: CA349535029

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557706G>T , CM000664.2:g.178557706G>T GRCh38
NC_000002.11:g.179422433G>T , CM000664.1:g.179422433G>T GRCh37
NC_000002.10:g.179130679G>T NCBI36
NG_011618.3:g.278097C>A , LRG_391:g.278097C>A
NG_051363.1:g.39880G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79944C>A (TTN) ENSP00000343764.6:p.Asn26648Lys
ENST00000342175.11:c.61029C>A (TTN) ENSP00000340554.6:p.Asn20343Lys
ENST00000359218.10:c.60828C>A (TTN) ENSP00000352154.5:p.Asn20276Lys
ENST00000342175.10:c.61029C>A (TTN) ENSP00000340554.6:p.Asn20343Lys
ENST00000342992.10:c.79944C>A (TTN) ENSP00000343764.6:p.Asn26648Lys
ENST00000359218.9:c.60828C>A (TTN) ENSP00000352154.5:p.Asn20276Lys
ENST00000460472.6:c.60453C>A (TTN) ENSP00000434586.1:p.Asn20151Lys
ENST00000589042.5:c.87648C>A (TTN) MANE Select ENSP00000467141.1:p.Asn29216Lys
ENST00000591111.5:c.82725C>A (TTN) ENSP00000465570.1:p.Asn27575Lys
ENST00000615779.4:c.82725C>A (TTN) ENSP00000483597.1:p.Asn27575Lys
NM_001256850.1:c.82725C>A (TTN) NP_001243779.1:p.Asn27575Lys
NM_001267550.2:c.87648C>A (TTN) MANE Select NP_001254479.2:p.Asn29216Lys
NM_003319.4:c.60453C>A (TTN) NP_003310.4:p.Asn20151Lys
NM_133378.4:c.79944C>A (TTN) NP_596869.4:p.Asn26648Lys
NM_133432.3:c.60828C>A (TTN) NP_597676.3:p.Asn20276Lys
NM_133437.4:c.61029C>A (TTN) NP_597681.4:p.Asn20343Lys
NR_038271.1:n.447-13594G>T (TTN-AS1)
NR_038272.1:n.2043+15345G>T (TTN-AS1)
XM_011511729.1:c.86745C>A (TTN) XP_011510031.1:p.Asn28915Lys
XM_011511730.1:c.60639C>A (TTN) XP_011510032.1:p.Asn20213Lys
XM_011511731.1:c.60498C>A (TTN) XP_011510033.1:p.Asn20166Lys
XM_017004819.1:c.86541C>A (TTN) XP_016860308.1:p.Asn28847Lys
XM_017004820.1:c.81939C>A (TTN) XP_016860309.1:p.Asn27313Lys
XM_017004821.1:c.81936C>A (TTN) XP_016860310.1:p.Asn27312Lys
XM_017004822.1:c.78978C>A (TTN) XP_016860311.1:p.Asn26326Lys
XM_017004823.1:c.60594C>A (TTN) XP_016860312.1:p.Asn20198Lys
XM_024453094.1:c.82089C>A (TTN) XP_024308862.1:p.Asn27363Lys
XM_024453095.1:c.82086C>A (TTN) XP_024308863.1:p.Asn27362Lys
XM_024453096.1:c.81519C>A (TTN) XP_024308864.1:p.Asn27173Lys
XM_024453097.1:c.78861C>A (TTN) XP_024308865.1:p.Asn26287Lys
XM_024453098.1:c.78780C>A (TTN) XP_024308866.1:p.Asn26260Lys
XM_024453099.1:c.60543C>A (TTN) XP_024308867.1:p.Asn20181Lys
XM_024453100.1:c.50397C>A (TTN) XP_024308868.1:p.Asn16799Lys