Canonical Allele Identifier: CA349646444
Community Standard Title: NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631034C>T , CM000664.2:g.178631034C>T GRCh38
NC_000002.11:g.179495761C>T , CM000664.1:g.179495761C>T GRCh37
NC_000002.10:g.179204006C>T NCBI36
NG_011618.3:g.204769G>A , LRG_391:g.204769G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44014G>A MANE Select NP_001254479.2:p.Asp14672Asn
ENST00000589042.5:c.44014G>A MANE Select ENSP00000467141.1:p.Asp14672Asn
NM_001256850.1:c.39091G>A NP_001243779.1:p.Asp13031Asn
NM_003319.4:c.16819G>A NP_003310.4:p.Asp5607Asn
NM_133378.4:c.36310G>A NP_596869.4:p.Asp12104Asn
NM_133432.3:c.17194G>A NP_597676.3:p.Asp5732Asn
NM_133437.4:c.17395G>A NP_597681.4:p.Asp5799Asn
ENST00000342175.10:c.17395G>A ENSP00000340554.6:p.Asp5799Asn
ENST00000342175.11:c.17395G>A ENSP00000340554.6:p.Asp5799Asn
ENST00000342992.10:c.36310G>A ENSP00000343764.6:p.Asp12104Asn
ENST00000342992.11:c.36310G>A ENSP00000343764.6:p.Asp12104Asn
ENST00000359218.10:c.17194G>A ENSP00000352154.5:p.Asp5732Asn
ENST00000359218.9:c.17194G>A ENSP00000352154.5:p.Asp5732Asn
ENST00000460472.6:c.16819G>A ENSP00000434586.1:p.Asp5607Asn
ENST00000591111.5:c.39091G>A ENSP00000465570.1:p.Asp13031Asn
ENST00000615779.4:c.39091G>A ENSP00000483597.1:p.Asp13031Asn
XM_011511729.1:c.43111G>A XP_011510031.1:p.Asp14371Asn
XM_011511730.1:c.17005G>A XP_011510032.1:p.Asp5669Asn
XM_011511731.1:c.16864G>A XP_011510033.1:p.Asp5622Asn
XM_017004819.1:c.42907G>A XP_016860308.1:p.Asp14303Asn
XM_017004820.1:c.38305G>A XP_016860309.1:p.Asp12769Asn
XM_017004821.1:c.38302G>A XP_016860310.1:p.Asp12768Asn
XM_017004822.1:c.35344G>A XP_016860311.1:p.Asp11782Asn
XM_017004823.1:c.16960G>A XP_016860312.1:p.Asp5654Asn
XM_024453094.1:c.38455G>A XP_024308862.1:p.Asp12819Asn
XM_024453095.1:c.38452G>A XP_024308863.1:p.Asp12818Asn
XM_024453096.1:c.37885G>A XP_024308864.1:p.Asp12629Asn
XM_024453097.1:c.35227G>A XP_024308865.1:p.Asp11743Asn
XM_024453098.1:c.35146G>A XP_024308866.1:p.Asp11716Asn
XM_024453099.1:c.16909G>A XP_024308867.1:p.Asp5637Asn
XM_024453100.1:c.6763G>A XP_024308868.1:p.Asp2255Asn