Canonical Allele Identifier: CA349411460

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532082G>A , CM000664.2:g.178532082G>A GRCh38
NC_000002.11:g.179396809G>A , CM000664.1:g.179396809G>A GRCh37
NC_000002.10:g.179105055G>A NCBI36
NG_011618.3:g.303721C>T , LRG_391:g.303721C>T
NG_051363.1:g.14256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96829C>T (TTN) ENSP00000343764.6:p.Pro32277Ser
ENST00000342175.11:c.77914C>T (TTN) ENSP00000340554.6:p.Pro25972Ser
ENST00000359218.10:c.77713C>T (TTN) ENSP00000352154.5:p.Pro25905Ser
ENST00000342175.10:c.77914C>T (TTN) ENSP00000340554.6:p.Pro25972Ser
ENST00000342992.10:c.96829C>T (TTN) ENSP00000343764.6:p.Pro32277Ser
ENST00000359218.9:c.77713C>T (TTN) ENSP00000352154.5:p.Pro25905Ser
ENST00000460472.6:c.77338C>T (TTN) ENSP00000434586.1:p.Pro25780Ser
ENST00000589042.5:c.104533C>T (TTN) MANE Select ENSP00000467141.1:p.Pro34845Ser
ENST00000591111.5:c.99610C>T (TTN) ENSP00000465570.1:p.Pro33204Ser
ENST00000615779.4:c.99610C>T (TTN) ENSP00000483597.1:p.Pro33204Ser
NM_001256850.1:c.99610C>T (TTN) NP_001243779.1:p.Pro33204Ser
NM_001267550.2:c.104533C>T (TTN) MANE Select NP_001254479.2:p.Pro34845Ser
NM_003319.4:c.77338C>T (TTN) NP_003310.4:p.Pro25780Ser
NM_133378.4:c.96829C>T (TTN) NP_596869.4:p.Pro32277Ser
NM_133432.3:c.77713C>T (TTN) NP_597676.3:p.Pro25905Ser
NM_133437.4:c.77914C>T (TTN) NP_597681.4:p.Pro25972Ser
NR_038271.1:n.446+8446G>A (TTN-AS1)
NR_038272.1:n.220-3650G>A (TTN-AS1)
XM_011511729.1:c.103630C>T (TTN) XP_011510031.1:p.Pro34544Ser
XM_011511730.1:c.77524C>T (TTN) XP_011510032.1:p.Pro25842Ser
XM_011511731.1:c.77383C>T (TTN) XP_011510033.1:p.Pro25795Ser
XM_017004819.1:c.103426C>T (TTN) XP_016860308.1:p.Pro34476Ser
XM_017004820.1:c.98824C>T (TTN) XP_016860309.1:p.Pro32942Ser
XM_017004821.1:c.98821C>T (TTN) XP_016860310.1:p.Pro32941Ser
XM_017004822.1:c.95863C>T (TTN) XP_016860311.1:p.Pro31955Ser
XM_017004823.1:c.77479C>T (TTN) XP_016860312.1:p.Pro25827Ser
XM_024453094.1:c.98974C>T (TTN) XP_024308862.1:p.Pro32992Ser
XM_024453095.1:c.98971C>T (TTN) XP_024308863.1:p.Pro32991Ser
XM_024453096.1:c.98404C>T (TTN) XP_024308864.1:p.Pro32802Ser
XM_024453097.1:c.95746C>T (TTN) XP_024308865.1:p.Pro31916Ser
XM_024453098.1:c.95665C>T (TTN) XP_024308866.1:p.Pro31889Ser
XM_024453099.1:c.77428C>T (TTN) XP_024308867.1:p.Pro25810Ser
XM_024453100.1:c.67282C>T (TTN) XP_024308868.1:p.Pro22428Ser