Canonical Allele Identifier: CA1310547547
Community Standard Title: NM_001267550.2(TTN):c.51482C= (p.Ala17161=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609941G= , CM000664.2:g.178609941G= GRCh38
NC_000002.11:g.179474668G= , CM000664.1:g.179474668G= GRCh37
NC_000002.10:g.179182913G= NCBI36
NG_011618.3:g.225862C= , LRG_391:g.225862C=
NG_051363.1:g.92115G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51482C= (TTN) MANE Select NP_001254479.2:p.Ala17161=
ENST00000589042.5:c.51482C= (TTN) MANE Select ENSP00000467141.1:p.Ala17161=
NM_001256850.1:c.46559C= (TTN) NP_001243779.1:p.Ala15520=
NM_003319.4:c.24287C= (TTN) NP_003310.4:p.Ala8096=
NM_133378.4:c.43778C= (TTN) NP_596869.4:p.Ala14593=
NM_133432.3:c.24662C= (TTN) NP_597676.3:p.Ala8221=
NM_133437.4:c.24863C= (TTN) NP_597681.4:p.Ala8288=
NR_038271.1:n.782+1675G= (TTN-AS1)
ENST00000342175.10:c.24863C= (TTN) ENSP00000340554.6:p.Ala8288=
ENST00000342175.11:c.24863C= (TTN) ENSP00000340554.6:p.Ala8288=
ENST00000342992.10:c.43778C= (TTN) ENSP00000343764.6:p.Ala14593=
ENST00000342992.11:c.43778C= (TTN) ENSP00000343764.6:p.Ala14593=
ENST00000359218.10:c.24662C= (TTN) ENSP00000352154.5:p.Ala8221=
ENST00000359218.9:c.24662C= (TTN) ENSP00000352154.5:p.Ala8221=
ENST00000460472.6:c.24287C= (TTN) ENSP00000434586.1:p.Ala8096=
ENST00000591111.5:c.46559C= (TTN) ENSP00000465570.1:p.Ala15520=
ENST00000615779.4:c.46559C= (TTN) ENSP00000483597.1:p.Ala15520=
XM_011511729.1:c.50579C= (TTN) XP_011510031.1:p.Ala16860=
XM_011511730.1:c.24473C= (TTN) XP_011510032.1:p.Ala8158=
XM_011511731.1:c.24332C= (TTN) XP_011510033.1:p.Ala8111=
XM_017004819.1:c.50375C= (TTN) XP_016860308.1:p.Ala16792=
XM_017004820.1:c.45773C= (TTN) XP_016860309.1:p.Ala15258=
XM_017004821.1:c.45770C= (TTN) XP_016860310.1:p.Ala15257=
XM_017004822.1:c.42812C= (TTN) XP_016860311.1:p.Ala14271=
XM_017004823.1:c.24428C= (TTN) XP_016860312.1:p.Ala8143=
XM_024453094.1:c.45923C= (TTN) XP_024308862.1:p.Ala15308=
XM_024453095.1:c.45920C= (TTN) XP_024308863.1:p.Ala15307=
XM_024453096.1:c.45353C= (TTN) XP_024308864.1:p.Ala15118=
XM_024453097.1:c.42695C= (TTN) XP_024308865.1:p.Ala14232=
XM_024453098.1:c.42614C= (TTN) XP_024308866.1:p.Ala14205=
XM_024453099.1:c.24377C= (TTN) XP_024308867.1:p.Ala8126=
XM_024453100.1:c.14231C= (TTN) XP_024308868.1:p.Ala4744=