Canonical Allele Identifier: CA60972507
Community Standard Title: NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546655G>A , CM000664.2:g.178546655G>A GRCh38
NC_000002.11:g.179411382G>A , CM000664.1:g.179411382G>A GRCh37
NC_000002.10:g.179119628G>A NCBI36
NG_011618.3:g.289148C>T , LRG_391:g.289148C>T
NG_051363.1:g.28829G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94773C>T (TTN) MANE Select NP_001254479.2:p.Gly31591=
ENST00000589042.5:c.94773C>T (TTN) MANE Select ENSP00000467141.1:p.Gly31591=
NM_001256850.1:c.89850C>T (TTN) NP_001243779.1:p.Gly29950=
NM_003319.4:c.67578C>T (TTN) NP_003310.4:p.Gly22526=
NM_133378.4:c.87069C>T (TTN) NP_596869.4:p.Gly29023=
NM_133432.3:c.67953C>T (TTN) NP_597676.3:p.Gly22651=
NM_133437.4:c.68154C>T (TTN) NP_597681.4:p.Gly22718=
NR_038271.1:n.446+23019G>A (TTN-AS1)
NR_038272.1:n.2043+4294G>A (TTN-AS1)
ENST00000342175.10:c.68154C>T (TTN) ENSP00000340554.6:p.Gly22718=
ENST00000342175.11:c.68154C>T (TTN) ENSP00000340554.6:p.Gly22718=
ENST00000342992.10:c.87069C>T (TTN) ENSP00000343764.6:p.Gly29023=
ENST00000342992.11:c.87069C>T (TTN) ENSP00000343764.6:p.Gly29023=
ENST00000359218.10:c.67953C>T (TTN) ENSP00000352154.5:p.Gly22651=
ENST00000359218.9:c.67953C>T (TTN) ENSP00000352154.5:p.Gly22651=
ENST00000460472.6:c.67578C>T (TTN) ENSP00000434586.1:p.Gly22526=
ENST00000591111.5:c.89850C>T (TTN) ENSP00000465570.1:p.Gly29950=
ENST00000615779.4:c.89850C>T (TTN) ENSP00000483597.1:p.Gly29950=
XM_011511729.1:c.93870C>T (TTN) XP_011510031.1:p.Gly31290=
XM_011511730.1:c.67764C>T (TTN) XP_011510032.1:p.Gly22588=
XM_011511731.1:c.67623C>T (TTN) XP_011510033.1:p.Gly22541=
XM_017004819.1:c.93666C>T (TTN) XP_016860308.1:p.Gly31222=
XM_017004820.1:c.89064C>T (TTN) XP_016860309.1:p.Gly29688=
XM_017004821.1:c.89061C>T (TTN) XP_016860310.1:p.Gly29687=
XM_017004822.1:c.86103C>T (TTN) XP_016860311.1:p.Gly28701=
XM_017004823.1:c.67719C>T (TTN) XP_016860312.1:p.Gly22573=
XM_024453094.1:c.89214C>T (TTN) XP_024308862.1:p.Gly29738=
XM_024453095.1:c.89211C>T (TTN) XP_024308863.1:p.Gly29737=
XM_024453096.1:c.88644C>T (TTN) XP_024308864.1:p.Gly29548=
XM_024453097.1:c.85986C>T (TTN) XP_024308865.1:p.Gly28662=
XM_024453098.1:c.85905C>T (TTN) XP_024308866.1:p.Gly28635=
XM_024453099.1:c.67668C>T (TTN) XP_024308867.1:p.Gly22556=
XM_024453100.1:c.57522C>T (TTN) XP_024308868.1:p.Gly19174=