Canonical Allele Identifier: CA430103799
Community Standard Title: NM_001267550.2(TTN):c.91416C>T (p.Asn30472=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551115G>A , CM000664.2:g.178551115G>A GRCh38
NC_000002.11:g.179415842G>A , CM000664.1:g.179415842G>A GRCh37
NC_000002.10:g.179124088G>A NCBI36
NG_011618.3:g.284688C>T , LRG_391:g.284688C>T
NG_051363.1:g.33289G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.91416C>T (TTN) MANE Select NP_001254479.2:p.Asn30472=
ENST00000589042.5:c.91416C>T (TTN) MANE Select ENSP00000467141.1:p.Asn30472=
NM_001256850.1:c.86493C>T (TTN) NP_001243779.1:p.Asn28831=
NM_003319.4:c.64221C>T (TTN) NP_003310.4:p.Asn21407=
NM_133378.4:c.83712C>T (TTN) NP_596869.4:p.Asn27904=
NM_133432.3:c.64596C>T (TTN) NP_597676.3:p.Asn21532=
NM_133437.4:c.64797C>T (TTN) NP_597681.4:p.Asn21599=
NR_038271.1:n.447-20185G>A (TTN-AS1)
NR_038272.1:n.2043+8754G>A (TTN-AS1)
ENST00000342175.10:c.64797C>T (TTN) ENSP00000340554.6:p.Asn21599=
ENST00000342175.11:c.64797C>T (TTN) ENSP00000340554.6:p.Asn21599=
ENST00000342992.10:c.83712C>T (TTN) ENSP00000343764.6:p.Asn27904=
ENST00000342992.11:c.83712C>T (TTN) ENSP00000343764.6:p.Asn27904=
ENST00000359218.10:c.64596C>T (TTN) ENSP00000352154.5:p.Asn21532=
ENST00000359218.9:c.64596C>T (TTN) ENSP00000352154.5:p.Asn21532=
ENST00000460472.6:c.64221C>T (TTN) ENSP00000434586.1:p.Asn21407=
ENST00000591111.5:c.86493C>T (TTN) ENSP00000465570.1:p.Asn28831=
ENST00000615779.4:c.86493C>T (TTN) ENSP00000483597.1:p.Asn28831=
XM_011511729.1:c.90513C>T (TTN) XP_011510031.1:p.Asn30171=
XM_011511730.1:c.64407C>T (TTN) XP_011510032.1:p.Asn21469=
XM_011511731.1:c.64266C>T (TTN) XP_011510033.1:p.Asn21422=
XM_017004819.1:c.90309C>T (TTN) XP_016860308.1:p.Asn30103=
XM_017004820.1:c.85707C>T (TTN) XP_016860309.1:p.Asn28569=
XM_017004821.1:c.85704C>T (TTN) XP_016860310.1:p.Asn28568=
XM_017004822.1:c.82746C>T (TTN) XP_016860311.1:p.Asn27582=
XM_017004823.1:c.64362C>T (TTN) XP_016860312.1:p.Asn21454=
XM_024453094.1:c.85857C>T (TTN) XP_024308862.1:p.Asn28619=
XM_024453095.1:c.85854C>T (TTN) XP_024308863.1:p.Asn28618=
XM_024453096.1:c.85287C>T (TTN) XP_024308864.1:p.Asn28429=
XM_024453097.1:c.82629C>T (TTN) XP_024308865.1:p.Asn27543=
XM_024453098.1:c.82548C>T (TTN) XP_024308866.1:p.Asn27516=
XM_024453099.1:c.64311C>T (TTN) XP_024308867.1:p.Asn21437=
XM_024453100.1:c.54165C>T (TTN) XP_024308868.1:p.Asn18055=