Canonical Allele Identifier: CA349407277

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530626C>T , CM000664.2:g.178530626C>T GRCh38
NC_000002.11:g.179395353C>T , CM000664.1:g.179395353C>T GRCh37
NC_000002.10:g.179103599C>T NCBI36
NG_011618.3:g.305177G>A , LRG_391:g.305177G>A
NG_051363.1:g.12800C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98285G>A (TTN) ENSP00000343764.6:p.Gly32762Glu
ENST00000342175.11:c.79370G>A (TTN) ENSP00000340554.6:p.Gly26457Glu
ENST00000359218.10:c.79169G>A (TTN) ENSP00000352154.5:p.Gly26390Glu
ENST00000342175.10:c.79370G>A (TTN) ENSP00000340554.6:p.Gly26457Glu
ENST00000342992.10:c.98285G>A (TTN) ENSP00000343764.6:p.Gly32762Glu
ENST00000359218.9:c.79169G>A (TTN) ENSP00000352154.5:p.Gly26390Glu
ENST00000460472.6:c.78794G>A (TTN) ENSP00000434586.1:p.Gly26265Glu
ENST00000589042.5:c.105989G>A (TTN) MANE Select ENSP00000467141.1:p.Gly35330Glu
ENST00000591111.5:c.101066G>A (TTN) ENSP00000465570.1:p.Gly33689Glu
ENST00000615779.4:c.101066G>A (TTN) ENSP00000483597.1:p.Gly33689Glu
NM_001256850.1:c.101066G>A (TTN) NP_001243779.1:p.Gly33689Glu
NM_001267550.2:c.105989G>A (TTN) MANE Select NP_001254479.2:p.Gly35330Glu
NM_003319.4:c.78794G>A (TTN) NP_003310.4:p.Gly26265Glu
NM_133378.4:c.98285G>A (TTN) NP_596869.4:p.Gly32762Glu
NM_133432.3:c.79169G>A (TTN) NP_597676.3:p.Gly26390Glu
NM_133437.4:c.79370G>A (TTN) NP_597681.4:p.Gly26457Glu
NR_038271.1:n.446+6990C>T (TTN-AS1)
NR_038272.1:n.220-5106C>T (TTN-AS1)
XM_011511729.1:c.105086G>A (TTN) XP_011510031.1:p.Gly35029Glu
XM_011511730.1:c.78980G>A (TTN) XP_011510032.1:p.Gly26327Glu
XM_011511731.1:c.78839G>A (TTN) XP_011510033.1:p.Gly26280Glu
XM_017004819.1:c.104882G>A (TTN) XP_016860308.1:p.Gly34961Glu
XM_017004820.1:c.100280G>A (TTN) XP_016860309.1:p.Gly33427Glu
XM_017004821.1:c.100277G>A (TTN) XP_016860310.1:p.Gly33426Glu
XM_017004822.1:c.97319G>A (TTN) XP_016860311.1:p.Gly32440Glu
XM_017004823.1:c.78935G>A (TTN) XP_016860312.1:p.Gly26312Glu
XM_024453094.1:c.100430G>A (TTN) XP_024308862.1:p.Gly33477Glu
XM_024453095.1:c.100427G>A (TTN) XP_024308863.1:p.Gly33476Glu
XM_024453096.1:c.99860G>A (TTN) XP_024308864.1:p.Gly33287Glu
XM_024453097.1:c.97202G>A (TTN) XP_024308865.1:p.Gly32401Glu
XM_024453098.1:c.97121G>A (TTN) XP_024308866.1:p.Gly32374Glu
XM_024453099.1:c.78884G>A (TTN) XP_024308867.1:p.Gly26295Glu
XM_024453100.1:c.68738G>A (TTN) XP_024308868.1:p.Gly22913Glu