Canonical Allele Identifier: CA1310540042

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592772C= , CM000664.2:g.178592772C= GRCh38
NC_000002.11:g.179457499C= , CM000664.1:g.179457499C= GRCh37
NC_000002.10:g.179165745C= NCBI36
NG_011618.3:g.243031G= , LRG_391:g.243031G=
NG_051363.1:g.74946C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51640+3G= (TTN) ENSP00000343764.6:n.51640+3G=
ENST00000342175.11:c.32725+3G= (TTN) ENSP00000340554.6:n.32725+3G=
ENST00000359218.10:c.32524+3G= (TTN) ENSP00000352154.5:n.32524+3G=
ENST00000342175.10:c.32725+3G= (TTN) ENSP00000340554.6:n.32725+3G=
ENST00000342992.10:c.51640+3G= (TTN) ENSP00000343764.6:n.51640+3G=
ENST00000359218.9:c.32524+3G= (TTN) ENSP00000352154.5:n.32524+3G=
ENST00000460472.6:c.32149+3G= (TTN) ENSP00000434586.1:n.32149+3G=
ENST00000589042.5:c.59344+3G= (TTN) MANE Select ENSP00000467141.1:n.59344+3G=
ENST00000591111.5:c.54421+3G= (TTN) ENSP00000465570.1:n.54421+3G=
ENST00000615779.4:c.54421+3G= (TTN) ENSP00000483597.1:n.54421+3G=
NM_001256850.1:c.54421+3G= (TTN) NP_001243779.1:n.54421+3G=
NM_001267550.2:c.59344+3G= (TTN) MANE Select NP_001254479.2:n.59344+3G=
NM_003319.4:c.32149+3G= (TTN) NP_003310.4:n.32149+3G=
NM_133378.4:c.51640+3G= (TTN) NP_596869.4:n.51640+3G=
NM_133432.3:c.32524+3G= (TTN) NP_597676.3:n.32524+3G=
NM_133437.4:c.32725+3G= (TTN) NP_597681.4:n.32725+3G=
NR_038271.1:n.597-4824C= (TTN-AS1)
NR_038272.1:n.3364+1458C= (TTN-AS1)
XM_011511729.1:c.58441+3G= (TTN) XP_011510031.1:n.58441+3G=
XM_011511730.1:c.32335+3G= (TTN) XP_011510032.1:n.32335+3G=
XM_011511731.1:c.32194+3G= (TTN) XP_011510033.1:n.32194+3G=
XM_017004819.1:c.58237+3G= (TTN) XP_016860308.1:n.58237+3G=
XM_017004820.1:c.53635+3G= (TTN) XP_016860309.1:n.53635+3G=
XM_017004821.1:c.53632+3G= (TTN) XP_016860310.1:n.53632+3G=
XM_017004822.1:c.50674+3G= (TTN) XP_016860311.1:n.50674+3G=
XM_017004823.1:c.32290+3G= (TTN) XP_016860312.1:n.32290+3G=
XM_024453094.1:c.53785+3G= (TTN) XP_024308862.1:n.53785+3G=
XM_024453095.1:c.53782+3G= (TTN) XP_024308863.1:n.53782+3G=
XM_024453096.1:c.53215+3G= (TTN) XP_024308864.1:n.53215+3G=
XM_024453097.1:c.50557+3G= (TTN) XP_024308865.1:n.50557+3G=
XM_024453098.1:c.50476+3G= (TTN) XP_024308866.1:n.50476+3G=
XM_024453099.1:c.32239+3G= (TTN) XP_024308867.1:n.32239+3G=
XM_024453100.1:c.22093+3G= (TTN) XP_024308868.1:n.22093+3G=