Canonical Allele Identifier: CA1310537122

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584676G= , CM000664.2:g.178584676G= GRCh38
NC_000002.11:g.179449403G= , CM000664.1:g.179449403G= GRCh37
NC_000002.10:g.179157649G= NCBI36
NG_011618.3:g.251127C= , LRG_391:g.251127C=
NG_051363.1:g.66850G=

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57261C= (TTN) ENSP00000343764.6:p.Phe19087=
ENST00000342175.11:c.38346C= (TTN) ENSP00000340554.6:p.Phe12782=
ENST00000359218.10:c.38145C= (TTN) ENSP00000352154.5:p.Phe12715=
ENST00000342175.10:c.38346C= (TTN) ENSP00000340554.6:p.Phe12782=
ENST00000342992.10:c.57261C= (TTN) ENSP00000343764.6:p.Phe19087=
ENST00000359218.9:c.38145C= (TTN) ENSP00000352154.5:p.Phe12715=
ENST00000460472.6:c.37770C= (TTN) ENSP00000434586.1:p.Phe12590=
ENST00000589042.5:c.64965C= (TTN) MANE Select ENSP00000467141.1:p.Phe21655=
ENST00000591111.5:c.60042C= (TTN) ENSP00000465570.1:p.Phe20014=
ENST00000615779.4:c.60042C= (TTN) ENSP00000483597.1:p.Phe20014=
NM_001256850.1:c.60042C= (TTN) NP_001243779.1:p.Phe20014=
NM_001267550.2:c.64965C= (TTN) MANE Select NP_001254479.2:p.Phe21655=
NM_003319.4:c.37770C= (TTN) NP_003310.4:p.Phe12590=
NM_133378.4:c.57261C= (TTN) NP_596869.4:p.Phe19087=
NM_133432.3:c.38145C= (TTN) NP_597676.3:p.Phe12715=
NM_133437.4:c.38346C= (TTN) NP_597681.4:p.Phe12782=
NR_038271.1:n.597-12920G= (TTN-AS1)
NR_038272.1:n.2871G= (TTN-AS1)
XM_011511729.1:c.64062C= (TTN) XP_011510031.1:p.Phe21354=
XM_011511730.1:c.37956C= (TTN) XP_011510032.1:p.Phe12652=
XM_011511731.1:c.37815C= (TTN) XP_011510033.1:p.Phe12605=
XM_017004819.1:c.63858C= (TTN) XP_016860308.1:p.Phe21286=
XM_017004820.1:c.59256C= (TTN) XP_016860309.1:p.Phe19752=
XM_017004821.1:c.59253C= (TTN) XP_016860310.1:p.Phe19751=
XM_017004822.1:c.56295C= (TTN) XP_016860311.1:p.Phe18765=
XM_017004823.1:c.37911C= (TTN) XP_016860312.1:p.Phe12637=
XM_024453094.1:c.59406C= (TTN) XP_024308862.1:p.Phe19802=
XM_024453095.1:c.59403C= (TTN) XP_024308863.1:p.Phe19801=
XM_024453096.1:c.58836C= (TTN) XP_024308864.1:p.Phe19612=
XM_024453097.1:c.56178C= (TTN) XP_024308865.1:p.Phe18726=
XM_024453098.1:c.56097C= (TTN) XP_024308866.1:p.Phe18699=
XM_024453099.1:c.37860C= (TTN) XP_024308867.1:p.Phe12620=
XM_024453100.1:c.27714C= (TTN) XP_024308868.1:p.Phe9238=