Canonical Allele Identifier: CA232521

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178528894G>A , CM000664.2:g.178528894G>A GRCh38
NC_000002.11:g.179393621G>A , CM000664.1:g.179393621G>A GRCh37
NC_000002.10:g.179101867G>A NCBI36
NG_011618.3:g.306909C>T , LRG_391:g.306909C>T
NG_051363.1:g.11068G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99153C>T (TTN) ENSP00000343764.6:p.Asn33051=
ENST00000342175.11:c.80238C>T (TTN) ENSP00000340554.6:p.Asn26746=
ENST00000359218.10:c.80037C>T (TTN) ENSP00000352154.5:p.Asn26679=
ENST00000342175.10:c.80238C>T (TTN) ENSP00000340554.6:p.Asn26746=
ENST00000342992.10:c.99153C>T (TTN) ENSP00000343764.6:p.Asn33051=
ENST00000359218.9:c.80037C>T (TTN) ENSP00000352154.5:p.Asn26679=
ENST00000460472.6:c.79662C>T (TTN) ENSP00000434586.1:p.Asn26554=
ENST00000589042.5:c.106857C>T (TTN) MANE Select ENSP00000467141.1:p.Asn35619=
ENST00000591111.5:c.101934C>T (TTN) ENSP00000465570.1:p.Asn33978=
ENST00000615779.4:c.101934C>T (TTN) ENSP00000483597.1:p.Asn33978=
NM_001256850.1:c.101934C>T (TTN) NP_001243779.1:p.Asn33978=
NM_001267550.2:c.106857C>T (TTN) MANE Select NP_001254479.2:p.Asn35619=
NM_003319.4:c.79662C>T (TTN) NP_003310.4:p.Asn26554=
NM_133378.4:c.99153C>T (TTN) NP_596869.4:p.Asn33051=
NM_133432.3:c.80037C>T (TTN) NP_597676.3:p.Asn26679=
NM_133437.4:c.80238C>T (TTN) NP_597681.4:p.Asn26746=
NR_038271.1:n.446+5258G>A (TTN-AS1)
NR_038272.1:n.219+5258G>A (TTN-AS1)
XM_011511729.1:c.105954C>T (TTN) XP_011510031.1:p.Asn35318=
XM_011511730.1:c.79848C>T (TTN) XP_011510032.1:p.Asn26616=
XM_011511731.1:c.79707C>T (TTN) XP_011510033.1:p.Asn26569=
XM_017004819.1:c.105750C>T (TTN) XP_016860308.1:p.Asn35250=
XM_017004820.1:c.101148C>T (TTN) XP_016860309.1:p.Asn33716=
XM_017004821.1:c.101145C>T (TTN) XP_016860310.1:p.Asn33715=
XM_017004822.1:c.98187C>T (TTN) XP_016860311.1:p.Asn32729=
XM_017004823.1:c.79803C>T (TTN) XP_016860312.1:p.Asn26601=
XM_024453094.1:c.101298C>T (TTN) XP_024308862.1:p.Asn33766=
XM_024453095.1:c.101295C>T (TTN) XP_024308863.1:p.Asn33765=
XM_024453096.1:c.100728C>T (TTN) XP_024308864.1:p.Asn33576=
XM_024453097.1:c.98070C>T (TTN) XP_024308865.1:p.Asn32690=
XM_024453098.1:c.97989C>T (TTN) XP_024308866.1:p.Asn32663=
XM_024453099.1:c.79752C>T (TTN) XP_024308867.1:p.Asn26584=
XM_024453100.1:c.69606C>T (TTN) XP_024308868.1:p.Asn23202=