Canonical Allele Identifier: CA349606714
Community Standard Title: NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178739504C>A , CM000664.2:g.178739504C>A GRCh38
NC_000002.11:g.179604231C>A , CM000664.1:g.179604231C>A GRCh37
NC_000002.10:g.179312476C>A NCBI36
NG_011618.3:g.96299G>T , LRG_391:g.96299G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.13729G>T MANE Select NP_001254479.2:p.Glu4577Ter
ENST00000589042.5:c.13729G>T MANE Select ENSP00000467141.1:p.Glu4577Ter
NM_001256850.1:c.12778G>T NP_001243779.1:p.Glu4260Ter
NM_003319.4:c.12640G>T NP_003310.4:p.Glu4214Ter
NM_133378.4:c.10361-1144G>T NP_596869.4:n.10361-1144G>T
NM_133432.3:c.13015G>T NP_597676.3:p.Glu4339Ter
NM_133437.4:c.13216G>T NP_597681.4:p.Glu4406Ter
ENST00000342175.10:c.13216G>T ENSP00000340554.6:p.Glu4406Ter
ENST00000342175.11:c.13216G>T ENSP00000340554.6:p.Glu4406Ter
ENST00000342992.10:c.10361-1144G>T ENSP00000343764.6:n.10361-1144G>T
ENST00000342992.11:c.10361-1144G>T ENSP00000343764.6:n.10361-1144G>T
ENST00000359218.10:c.13015G>T ENSP00000352154.5:p.Glu4339Ter
ENST00000359218.9:c.13015G>T ENSP00000352154.5:p.Glu4339Ter
ENST00000460472.6:c.12640G>T ENSP00000434586.1:p.Glu4214Ter
ENST00000591111.5:c.12778G>T ENSP00000465570.1:p.Glu4260Ter
ENST00000615779.4:c.12778G>T ENSP00000483597.1:p.Glu4260Ter
XM_011511729.1:c.12826G>T XP_011510031.1:p.Glu4276Ter
XM_011511730.1:c.12826G>T XP_011510032.1:p.Glu4276Ter
XM_011511731.1:c.12685G>T XP_011510033.1:p.Glu4229Ter
XM_017004819.1:c.12781G>T XP_016860308.1:p.Glu4261Ter
XM_017004820.1:c.10364-1144G>T XP_016860309.1:n.10364-1144G>T
XM_017004821.1:c.10361-1144G>T XP_016860310.1:n.10361-1144G>T
XM_017004822.1:c.12781G>T XP_016860311.1:p.Glu4261Ter
XM_017004823.1:c.12781G>T XP_016860312.1:p.Glu4261Ter
XM_024453094.1:c.12781G>T XP_024308862.1:p.Glu4261Ter
XM_024453095.1:c.12781G>T XP_024308863.1:p.Glu4261Ter
XM_024453096.1:c.12781G>T XP_024308864.1:p.Glu4261Ter
XM_024453097.1:c.12781G>T XP_024308865.1:p.Glu4261Ter
XM_024453098.1:c.12781G>T XP_024308866.1:p.Glu4261Ter
XM_024453099.1:c.12781G>T XP_024308867.1:p.Glu4261Ter