Canonical Allele Identifier: CA349621860

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618683T>A , CM000664.2:g.178618683T>A GRCh38
NC_000002.11:g.179483410T>A , CM000664.1:g.179483410T>A GRCh37
NC_000002.10:g.179191655T>A NCBI36
NG_011618.3:g.217120A>T , LRG_391:g.217120A>T
NG_051363.1:g.100857T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39163A>T (TTN) ENSP00000343764.6:p.Arg13055Ter
ENST00000342175.11:c.20248A>T (TTN) ENSP00000340554.6:p.Arg6750Ter
ENST00000359218.10:c.20047A>T (TTN) ENSP00000352154.5:p.Arg6683Ter
ENST00000342175.10:c.20248A>T (TTN) ENSP00000340554.6:p.Arg6750Ter
ENST00000342992.10:c.39163A>T (TTN) ENSP00000343764.6:p.Arg13055Ter
ENST00000359218.9:c.20047A>T (TTN) ENSP00000352154.5:p.Arg6683Ter
ENST00000460472.6:c.19672A>T (TTN) ENSP00000434586.1:p.Arg6558Ter
ENST00000589042.5:c.46867A>T (TTN) MANE Select ENSP00000467141.1:p.Arg15623Ter
ENST00000591111.5:c.41944A>T (TTN) ENSP00000465570.1:p.Arg13982Ter
ENST00000615779.4:c.41944A>T (TTN) ENSP00000483597.1:p.Arg13982Ter
NM_001256850.1:c.41944A>T (TTN) NP_001243779.1:p.Arg13982Ter
NM_001267550.2:c.46867A>T (TTN) MANE Select NP_001254479.2:p.Arg15623Ter
NM_003319.4:c.19672A>T (TTN) NP_003310.4:p.Arg6558Ter
NM_133378.4:c.39163A>T (TTN) NP_596869.4:p.Arg13055Ter
NM_133432.3:c.20047A>T (TTN) NP_597676.3:p.Arg6683Ter
NM_133437.4:c.20248A>T (TTN) NP_597681.4:p.Arg6750Ter
NR_038271.1:n.1605-1070T>A (TTN-AS1)
XM_011511729.1:c.45964A>T (TTN) XP_011510031.1:p.Arg15322Ter
XM_011511730.1:c.19858A>T (TTN) XP_011510032.1:p.Arg6620Ter
XM_011511731.1:c.19717A>T (TTN) XP_011510033.1:p.Arg6573Ter
XM_017004819.1:c.45760A>T (TTN) XP_016860308.1:p.Arg15254Ter
XM_017004820.1:c.41158A>T (TTN) XP_016860309.1:p.Arg13720Ter
XM_017004821.1:c.41155A>T (TTN) XP_016860310.1:p.Arg13719Ter
XM_017004822.1:c.38197A>T (TTN) XP_016860311.1:p.Arg12733Ter
XM_017004823.1:c.19813A>T (TTN) XP_016860312.1:p.Arg6605Ter
XM_024453094.1:c.41308A>T (TTN) XP_024308862.1:p.Arg13770Ter
XM_024453095.1:c.41305A>T (TTN) XP_024308863.1:p.Arg13769Ter
XM_024453096.1:c.40738A>T (TTN) XP_024308864.1:p.Arg13580Ter
XM_024453097.1:c.38080A>T (TTN) XP_024308865.1:p.Arg12694Ter
XM_024453098.1:c.37999A>T (TTN) XP_024308866.1:p.Arg12667Ter
XM_024453099.1:c.19762A>T (TTN) XP_024308867.1:p.Arg6588Ter
XM_024453100.1:c.9616A>T (TTN) XP_024308868.1:p.Arg3206Ter