Canonical Allele Identifier: CA349616283

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569877T>C , CM000664.2:g.178569877T>C GRCh38
NC_000002.11:g.179434604T>C , CM000664.1:g.179434604T>C GRCh37
NC_000002.10:g.179142850T>C NCBI36
NG_011618.3:g.265926A>G , LRG_391:g.265926A>G
NG_051363.1:g.52051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68551A>G (TTN) ENSP00000343764.6:p.Arg22851Gly
ENST00000342175.11:c.49636A>G (TTN) ENSP00000340554.6:p.Arg16546Gly
ENST00000359218.10:c.49435A>G (TTN) ENSP00000352154.5:p.Arg16479Gly
ENST00000342175.10:c.49636A>G (TTN) ENSP00000340554.6:p.Arg16546Gly
ENST00000342992.10:c.68551A>G (TTN) ENSP00000343764.6:p.Arg22851Gly
ENST00000359218.9:c.49435A>G (TTN) ENSP00000352154.5:p.Arg16479Gly
ENST00000460472.6:c.49060A>G (TTN) ENSP00000434586.1:p.Arg16354Gly
ENST00000589042.5:c.76255A>G (TTN) MANE Select ENSP00000467141.1:p.Arg25419Gly
ENST00000591111.5:c.71332A>G (TTN) ENSP00000465570.1:p.Arg23778Gly
ENST00000615779.4:c.71332A>G (TTN) ENSP00000483597.1:p.Arg23778Gly
NM_001256850.1:c.71332A>G (TTN) NP_001243779.1:p.Arg23778Gly
NM_001267550.2:c.76255A>G (TTN) MANE Select NP_001254479.2:p.Arg25419Gly
NM_003319.4:c.49060A>G (TTN) NP_003310.4:p.Arg16354Gly
NM_133378.4:c.68551A>G (TTN) NP_596869.4:p.Arg22851Gly
NM_133432.3:c.49435A>G (TTN) NP_597676.3:p.Arg16479Gly
NM_133437.4:c.49636A>G (TTN) NP_597681.4:p.Arg16546Gly
NR_038271.1:n.447-1423T>C (TTN-AS1)
NR_038272.1:n.2044-12695T>C (TTN-AS1)
XM_011511729.1:c.75352A>G (TTN) XP_011510031.1:p.Arg25118Gly
XM_011511730.1:c.49246A>G (TTN) XP_011510032.1:p.Arg16416Gly
XM_011511731.1:c.49105A>G (TTN) XP_011510033.1:p.Arg16369Gly
XM_017004819.1:c.75148A>G (TTN) XP_016860308.1:p.Arg25050Gly
XM_017004820.1:c.70546A>G (TTN) XP_016860309.1:p.Arg23516Gly
XM_017004821.1:c.70543A>G (TTN) XP_016860310.1:p.Arg23515Gly
XM_017004822.1:c.67585A>G (TTN) XP_016860311.1:p.Arg22529Gly
XM_017004823.1:c.49201A>G (TTN) XP_016860312.1:p.Arg16401Gly
XM_024453094.1:c.70696A>G (TTN) XP_024308862.1:p.Arg23566Gly
XM_024453095.1:c.70693A>G (TTN) XP_024308863.1:p.Arg23565Gly
XM_024453096.1:c.70126A>G (TTN) XP_024308864.1:p.Arg23376Gly
XM_024453097.1:c.67468A>G (TTN) XP_024308865.1:p.Arg22490Gly
XM_024453098.1:c.67387A>G (TTN) XP_024308866.1:p.Arg22463Gly
XM_024453099.1:c.49150A>G (TTN) XP_024308867.1:p.Arg16384Gly
XM_024453100.1:c.39004A>G (TTN) XP_024308868.1:p.Arg13002Gly