Canonical Allele Identifier: CA349411629

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532141G>A , CM000664.2:g.178532141G>A GRCh38
NC_000002.11:g.179396868G>A , CM000664.1:g.179396868G>A GRCh37
NC_000002.10:g.179105114G>A NCBI36
NG_011618.3:g.303662C>T , LRG_391:g.303662C>T
NG_051363.1:g.14315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96770C>T (TTN) ENSP00000343764.6:p.Ala32257Val
ENST00000342175.11:c.77855C>T (TTN) ENSP00000340554.6:p.Ala25952Val
ENST00000359218.10:c.77654C>T (TTN) ENSP00000352154.5:p.Ala25885Val
ENST00000342175.10:c.77855C>T (TTN) ENSP00000340554.6:p.Ala25952Val
ENST00000342992.10:c.96770C>T (TTN) ENSP00000343764.6:p.Ala32257Val
ENST00000359218.9:c.77654C>T (TTN) ENSP00000352154.5:p.Ala25885Val
ENST00000460472.6:c.77279C>T (TTN) ENSP00000434586.1:p.Ala25760Val
ENST00000589042.5:c.104474C>T (TTN) MANE Select ENSP00000467141.1:p.Ala34825Val
ENST00000591111.5:c.99551C>T (TTN) ENSP00000465570.1:p.Ala33184Val
ENST00000615779.4:c.99551C>T (TTN) ENSP00000483597.1:p.Ala33184Val
NM_001256850.1:c.99551C>T (TTN) NP_001243779.1:p.Ala33184Val
NM_001267550.2:c.104474C>T (TTN) MANE Select NP_001254479.2:p.Ala34825Val
NM_003319.4:c.77279C>T (TTN) NP_003310.4:p.Ala25760Val
NM_133378.4:c.96770C>T (TTN) NP_596869.4:p.Ala32257Val
NM_133432.3:c.77654C>T (TTN) NP_597676.3:p.Ala25885Val
NM_133437.4:c.77855C>T (TTN) NP_597681.4:p.Ala25952Val
NR_038271.1:n.446+8505G>A (TTN-AS1)
NR_038272.1:n.220-3591G>A (TTN-AS1)
XM_011511729.1:c.103571C>T (TTN) XP_011510031.1:p.Ala34524Val
XM_011511730.1:c.77465C>T (TTN) XP_011510032.1:p.Ala25822Val
XM_011511731.1:c.77324C>T (TTN) XP_011510033.1:p.Ala25775Val
XM_017004819.1:c.103367C>T (TTN) XP_016860308.1:p.Ala34456Val
XM_017004820.1:c.98765C>T (TTN) XP_016860309.1:p.Ala32922Val
XM_017004821.1:c.98762C>T (TTN) XP_016860310.1:p.Ala32921Val
XM_017004822.1:c.95804C>T (TTN) XP_016860311.1:p.Ala31935Val
XM_017004823.1:c.77420C>T (TTN) XP_016860312.1:p.Ala25807Val
XM_024453094.1:c.98915C>T (TTN) XP_024308862.1:p.Ala32972Val
XM_024453095.1:c.98912C>T (TTN) XP_024308863.1:p.Ala32971Val
XM_024453096.1:c.98345C>T (TTN) XP_024308864.1:p.Ala32782Val
XM_024453097.1:c.95687C>T (TTN) XP_024308865.1:p.Ala31896Val
XM_024453098.1:c.95606C>T (TTN) XP_024308866.1:p.Ala31869Val
XM_024453099.1:c.77369C>T (TTN) XP_024308867.1:p.Ala25790Val
XM_024453100.1:c.67223C>T (TTN) XP_024308868.1:p.Ala22408Val