Canonical Allele Identifier: CA1988553
Community Standard Title: NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560012C>T , CM000664.2:g.178560012C>T GRCh38
NC_000002.11:g.179424739C>T , CM000664.1:g.179424739C>T GRCh37
NC_000002.10:g.179132985C>T NCBI36
NG_011618.3:g.275791G>A , LRG_391:g.275791G>A
NG_051363.1:g.42186C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86120G>A (TTN) MANE Select NP_001254479.2:p.Gly28707Glu
ENST00000589042.5:c.86120G>A (TTN) MANE Select ENSP00000467141.1:p.Gly28707Glu
NM_001256850.1:c.81197G>A (TTN) NP_001243779.1:p.Gly27066Glu
NM_003319.4:c.58925G>A (TTN) NP_003310.4:p.Gly19642Glu
NM_133378.4:c.78416G>A (TTN) NP_596869.4:p.Gly26139Glu
NM_133432.3:c.59300G>A (TTN) NP_597676.3:p.Gly19767Glu
NM_133437.4:c.59501G>A (TTN) NP_597681.4:p.Gly19834Glu
NR_038271.1:n.447-11288C>T (TTN-AS1)
NR_038272.1:n.2043+17651C>T (TTN-AS1)
ENST00000342175.10:c.59501G>A (TTN) ENSP00000340554.6:p.Gly19834Glu
ENST00000342175.11:c.59501G>A (TTN) ENSP00000340554.6:p.Gly19834Glu
ENST00000342992.10:c.78416G>A (TTN) ENSP00000343764.6:p.Gly26139Glu
ENST00000342992.11:c.78416G>A (TTN) ENSP00000343764.6:p.Gly26139Glu
ENST00000359218.10:c.59300G>A (TTN) ENSP00000352154.5:p.Gly19767Glu
ENST00000359218.9:c.59300G>A (TTN) ENSP00000352154.5:p.Gly19767Glu
ENST00000460472.6:c.58925G>A (TTN) ENSP00000434586.1:p.Gly19642Glu
ENST00000591111.5:c.81197G>A (TTN) ENSP00000465570.1:p.Gly27066Glu
ENST00000615779.4:c.81197G>A (TTN) ENSP00000483597.1:p.Gly27066Glu
XM_011511729.1:c.85217G>A (TTN) XP_011510031.1:p.Gly28406Glu
XM_011511730.1:c.59111G>A (TTN) XP_011510032.1:p.Gly19704Glu
XM_011511731.1:c.58970G>A (TTN) XP_011510033.1:p.Gly19657Glu
XM_017004819.1:c.85013G>A (TTN) XP_016860308.1:p.Gly28338Glu
XM_017004820.1:c.80411G>A (TTN) XP_016860309.1:p.Gly26804Glu
XM_017004821.1:c.80408G>A (TTN) XP_016860310.1:p.Gly26803Glu
XM_017004822.1:c.77450G>A (TTN) XP_016860311.1:p.Gly25817Glu
XM_017004823.1:c.59066G>A (TTN) XP_016860312.1:p.Gly19689Glu
XM_024453094.1:c.80561G>A (TTN) XP_024308862.1:p.Gly26854Glu
XM_024453095.1:c.80558G>A (TTN) XP_024308863.1:p.Gly26853Glu
XM_024453096.1:c.79991G>A (TTN) XP_024308864.1:p.Gly26664Glu
XM_024453097.1:c.77333G>A (TTN) XP_024308865.1:p.Gly25778Glu
XM_024453098.1:c.77252G>A (TTN) XP_024308866.1:p.Gly25751Glu
XM_024453099.1:c.59015G>A (TTN) XP_024308867.1:p.Gly19672Glu
XM_024453100.1:c.48869G>A (TTN) XP_024308868.1:p.Gly16290Glu