Canonical Allele Identifier: CA1310537123

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584680T= , CM000664.2:g.178584680T= GRCh38
NC_000002.11:g.179449407T= , CM000664.1:g.179449407T= GRCh37
NC_000002.10:g.179157653T= NCBI36
NG_011618.3:g.251123A= , LRG_391:g.251123A=
NG_051363.1:g.66854T=

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57257A= (TTN) ENSP00000343764.6:p.Gln19086=
ENST00000342175.11:c.38342A= (TTN) ENSP00000340554.6:p.Gln12781=
ENST00000359218.10:c.38141A= (TTN) ENSP00000352154.5:p.Gln12714=
ENST00000342175.10:c.38342A= (TTN) ENSP00000340554.6:p.Gln12781=
ENST00000342992.10:c.57257A= (TTN) ENSP00000343764.6:p.Gln19086=
ENST00000359218.9:c.38141A= (TTN) ENSP00000352154.5:p.Gln12714=
ENST00000460472.6:c.37766A= (TTN) ENSP00000434586.1:p.Gln12589=
ENST00000589042.5:c.64961A= (TTN) MANE Select ENSP00000467141.1:p.Gln21654=
ENST00000591111.5:c.60038A= (TTN) ENSP00000465570.1:p.Gln20013=
ENST00000615779.4:c.60038A= (TTN) ENSP00000483597.1:p.Gln20013=
NM_001256850.1:c.60038A= (TTN) NP_001243779.1:p.Gln20013=
NM_001267550.2:c.64961A= (TTN) MANE Select NP_001254479.2:p.Gln21654=
NM_003319.4:c.37766A= (TTN) NP_003310.4:p.Gln12589=
NM_133378.4:c.57257A= (TTN) NP_596869.4:p.Gln19086=
NM_133432.3:c.38141A= (TTN) NP_597676.3:p.Gln12714=
NM_133437.4:c.38342A= (TTN) NP_597681.4:p.Gln12781=
NR_038271.1:n.597-12916T= (TTN-AS1)
NR_038272.1:n.2875T= (TTN-AS1)
XM_011511729.1:c.64058A= (TTN) XP_011510031.1:p.Gln21353=
XM_011511730.1:c.37952A= (TTN) XP_011510032.1:p.Gln12651=
XM_011511731.1:c.37811A= (TTN) XP_011510033.1:p.Gln12604=
XM_017004819.1:c.63854A= (TTN) XP_016860308.1:p.Gln21285=
XM_017004820.1:c.59252A= (TTN) XP_016860309.1:p.Gln19751=
XM_017004821.1:c.59249A= (TTN) XP_016860310.1:p.Gln19750=
XM_017004822.1:c.56291A= (TTN) XP_016860311.1:p.Gln18764=
XM_017004823.1:c.37907A= (TTN) XP_016860312.1:p.Gln12636=
XM_024453094.1:c.59402A= (TTN) XP_024308862.1:p.Gln19801=
XM_024453095.1:c.59399A= (TTN) XP_024308863.1:p.Gln19800=
XM_024453096.1:c.58832A= (TTN) XP_024308864.1:p.Gln19611=
XM_024453097.1:c.56174A= (TTN) XP_024308865.1:p.Gln18725=
XM_024453098.1:c.56093A= (TTN) XP_024308866.1:p.Gln18698=
XM_024453099.1:c.37856A= (TTN) XP_024308867.1:p.Gln12619=
XM_024453100.1:c.27710A= (TTN) XP_024308868.1:p.Gln9237=