Canonical Allele Identifier: CA1987275
Community Standard Title: NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548023G>A , CM000664.2:g.178548023G>A GRCh38
NC_000002.11:g.179412750G>A , CM000664.1:g.179412750G>A GRCh37
NC_000002.10:g.179120996G>A NCBI36
NG_011618.3:g.287780C>T , LRG_391:g.287780C>T
NG_051363.1:g.30197G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93603C>T (TTN) MANE Select NP_001254479.2:p.Phe31201=
ENST00000589042.5:c.93603C>T (TTN) MANE Select ENSP00000467141.1:p.Phe31201=
NM_001256850.1:c.88680C>T (TTN) NP_001243779.1:p.Phe29560=
NM_003319.4:c.66408C>T (TTN) NP_003310.4:p.Phe22136=
NM_133378.4:c.85899C>T (TTN) NP_596869.4:p.Phe28633=
NM_133432.3:c.66783C>T (TTN) NP_597676.3:p.Phe22261=
NM_133437.4:c.66984C>T (TTN) NP_597681.4:p.Phe22328=
NR_038271.1:n.447-23277G>A (TTN-AS1)
NR_038272.1:n.2043+5662G>A (TTN-AS1)
ENST00000342175.10:c.66984C>T (TTN) ENSP00000340554.6:p.Phe22328=
ENST00000342175.11:c.66984C>T (TTN) ENSP00000340554.6:p.Phe22328=
ENST00000342992.10:c.85899C>T (TTN) ENSP00000343764.6:p.Phe28633=
ENST00000342992.11:c.85899C>T (TTN) ENSP00000343764.6:p.Phe28633=
ENST00000359218.10:c.66783C>T (TTN) ENSP00000352154.5:p.Phe22261=
ENST00000359218.9:c.66783C>T (TTN) ENSP00000352154.5:p.Phe22261=
ENST00000460472.6:c.66408C>T (TTN) ENSP00000434586.1:p.Phe22136=
ENST00000591111.5:c.88680C>T (TTN) ENSP00000465570.1:p.Phe29560=
ENST00000615779.4:c.88680C>T (TTN) ENSP00000483597.1:p.Phe29560=
XM_011511729.1:c.92700C>T (TTN) XP_011510031.1:p.Phe30900=
XM_011511730.1:c.66594C>T (TTN) XP_011510032.1:p.Phe22198=
XM_011511731.1:c.66453C>T (TTN) XP_011510033.1:p.Phe22151=
XM_017004819.1:c.92496C>T (TTN) XP_016860308.1:p.Phe30832=
XM_017004820.1:c.87894C>T (TTN) XP_016860309.1:p.Phe29298=
XM_017004821.1:c.87891C>T (TTN) XP_016860310.1:p.Phe29297=
XM_017004822.1:c.84933C>T (TTN) XP_016860311.1:p.Phe28311=
XM_017004823.1:c.66549C>T (TTN) XP_016860312.1:p.Phe22183=
XM_024453094.1:c.88044C>T (TTN) XP_024308862.1:p.Phe29348=
XM_024453095.1:c.88041C>T (TTN) XP_024308863.1:p.Phe29347=
XM_024453096.1:c.87474C>T (TTN) XP_024308864.1:p.Phe29158=
XM_024453097.1:c.84816C>T (TTN) XP_024308865.1:p.Phe28272=
XM_024453098.1:c.84735C>T (TTN) XP_024308866.1:p.Phe28245=
XM_024453099.1:c.66498C>T (TTN) XP_024308867.1:p.Phe22166=
XM_024453100.1:c.56352C>T (TTN) XP_024308868.1:p.Phe18784=