Canonical Allele Identifier: CA349417285

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534065C>G , CM000664.2:g.178534065C>G GRCh38
NC_000002.11:g.179398792C>G , CM000664.1:g.179398792C>G GRCh37
NC_000002.10:g.179107038C>G NCBI36
NG_011618.3:g.301738G>C , LRG_391:g.301738G>C
NG_051363.1:g.16239C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94846G>C (TTN) ENSP00000343764.6:p.Glu31616Gln
ENST00000342175.11:c.75931G>C (TTN) ENSP00000340554.6:p.Glu25311Gln
ENST00000359218.10:c.75730G>C (TTN) ENSP00000352154.5:p.Glu25244Gln
ENST00000342175.10:c.75931G>C (TTN) ENSP00000340554.6:p.Glu25311Gln
ENST00000342992.10:c.94846G>C (TTN) ENSP00000343764.6:p.Glu31616Gln
ENST00000359218.9:c.75730G>C (TTN) ENSP00000352154.5:p.Glu25244Gln
ENST00000460472.6:c.75355G>C (TTN) ENSP00000434586.1:p.Glu25119Gln
ENST00000589042.5:c.102550G>C (TTN) MANE Select ENSP00000467141.1:p.Glu34184Gln
ENST00000591111.5:c.97627G>C (TTN) ENSP00000465570.1:p.Glu32543Gln
ENST00000615779.4:c.97627G>C (TTN) ENSP00000483597.1:p.Glu32543Gln
NM_001256850.1:c.97627G>C (TTN) NP_001243779.1:p.Glu32543Gln
NM_001267550.2:c.102550G>C (TTN) MANE Select NP_001254479.2:p.Glu34184Gln
NM_003319.4:c.75355G>C (TTN) NP_003310.4:p.Glu25119Gln
NM_133378.4:c.94846G>C (TTN) NP_596869.4:p.Glu31616Gln
NM_133432.3:c.75730G>C (TTN) NP_597676.3:p.Glu25244Gln
NM_133437.4:c.75931G>C (TTN) NP_597681.4:p.Glu25311Gln
NR_038271.1:n.446+10429C>G (TTN-AS1)
NR_038272.1:n.220-1667C>G (TTN-AS1)
XM_011511729.1:c.101647G>C (TTN) XP_011510031.1:p.Glu33883Gln
XM_011511730.1:c.75541G>C (TTN) XP_011510032.1:p.Glu25181Gln
XM_011511731.1:c.75400G>C (TTN) XP_011510033.1:p.Glu25134Gln
XM_017004819.1:c.101443G>C (TTN) XP_016860308.1:p.Glu33815Gln
XM_017004820.1:c.96841G>C (TTN) XP_016860309.1:p.Glu32281Gln
XM_017004821.1:c.96838G>C (TTN) XP_016860310.1:p.Glu32280Gln
XM_017004822.1:c.93880G>C (TTN) XP_016860311.1:p.Glu31294Gln
XM_017004823.1:c.75496G>C (TTN) XP_016860312.1:p.Glu25166Gln
XM_024453094.1:c.96991G>C (TTN) XP_024308862.1:p.Glu32331Gln
XM_024453095.1:c.96988G>C (TTN) XP_024308863.1:p.Glu32330Gln
XM_024453096.1:c.96421G>C (TTN) XP_024308864.1:p.Glu32141Gln
XM_024453097.1:c.93763G>C (TTN) XP_024308865.1:p.Glu31255Gln
XM_024453098.1:c.93682G>C (TTN) XP_024308866.1:p.Glu31228Gln
XM_024453099.1:c.75445G>C (TTN) XP_024308867.1:p.Glu25149Gln
XM_024453100.1:c.65299G>C (TTN) XP_024308868.1:p.Glu21767Gln