Canonical Allele Identifier: CA430092428
Community Standard Title: NM_001267550.2(TTN):c.107410T>C (p.Leu35804=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527716A>G , CM000664.2:g.178527716A>G GRCh38
NC_000002.11:g.179392443A>G , CM000664.1:g.179392443A>G GRCh37
NC_000002.10:g.179100689A>G NCBI36
NG_011618.3:g.308087T>C , LRG_391:g.308087T>C
NG_051363.1:g.9890A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107410T>C (TTN) MANE Select NP_001254479.2:p.Leu35804=
ENST00000589042.5:c.107410T>C (TTN) MANE Select ENSP00000467141.1:p.Leu35804=
NM_001256850.1:c.102487T>C (TTN) NP_001243779.1:p.Leu34163=
NM_003319.4:c.80215T>C (TTN) NP_003310.4:p.Leu26739=
NM_133378.4:c.99706T>C (TTN) NP_596869.4:p.Leu33236=
NM_133432.3:c.80590T>C (TTN) NP_597676.3:p.Leu26864=
NM_133437.4:c.80791T>C (TTN) NP_597681.4:p.Leu26931=
NR_038271.1:n.446+4080A>G (TTN-AS1)
NR_038272.1:n.219+4080A>G (TTN-AS1)
ENST00000342175.10:c.80791T>C (TTN) ENSP00000340554.6:p.Leu26931=
ENST00000342175.11:c.80791T>C (TTN) ENSP00000340554.6:p.Leu26931=
ENST00000342992.10:c.99706T>C (TTN) ENSP00000343764.6:p.Leu33236=
ENST00000342992.11:c.99706T>C (TTN) ENSP00000343764.6:p.Leu33236=
ENST00000359218.10:c.80590T>C (TTN) ENSP00000352154.5:p.Leu26864=
ENST00000359218.9:c.80590T>C (TTN) ENSP00000352154.5:p.Leu26864=
ENST00000460472.6:c.80215T>C (TTN) ENSP00000434586.1:p.Leu26739=
ENST00000591111.5:c.102487T>C (TTN) ENSP00000465570.1:p.Leu34163=
ENST00000615779.4:c.102487T>C (TTN) ENSP00000483597.1:p.Leu34163=
XM_011511729.1:c.106507T>C (TTN) XP_011510031.1:p.Leu35503=
XM_011511730.1:c.80401T>C (TTN) XP_011510032.1:p.Leu26801=
XM_011511731.1:c.80260T>C (TTN) XP_011510033.1:p.Leu26754=
XM_017004819.1:c.106303T>C (TTN) XP_016860308.1:p.Leu35435=
XM_017004820.1:c.101701T>C (TTN) XP_016860309.1:p.Leu33901=
XM_017004821.1:c.101698T>C (TTN) XP_016860310.1:p.Leu33900=
XM_017004822.1:c.98740T>C (TTN) XP_016860311.1:p.Leu32914=
XM_017004823.1:c.80356T>C (TTN) XP_016860312.1:p.Leu26786=
XM_024453094.1:c.101851T>C (TTN) XP_024308862.1:p.Leu33951=
XM_024453095.1:c.101848T>C (TTN) XP_024308863.1:p.Leu33950=
XM_024453096.1:c.101281T>C (TTN) XP_024308864.1:p.Leu33761=
XM_024453097.1:c.98623T>C (TTN) XP_024308865.1:p.Leu32875=
XM_024453098.1:c.98542T>C (TTN) XP_024308866.1:p.Leu32848=
XM_024453099.1:c.80305T>C (TTN) XP_024308867.1:p.Leu26769=
XM_024453100.1:c.70159T>C (TTN) XP_024308868.1:p.Leu23387=