Canonical Allele Identifier: CA349615928
Community Standard Title: NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740982A>C , CM000664.2:g.178740982A>C GRCh38
NC_000002.11:g.179605709A>C , CM000664.1:g.179605709A>C GRCh37
NC_000002.10:g.179313954A>C NCBI36
NG_011618.3:g.94821T>G , LRG_391:g.94821T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.12251T>G MANE Select NP_001254479.2:p.Leu4084Ter
ENST00000589042.5:c.12251T>G MANE Select ENSP00000467141.1:p.Leu4084Ter
NM_001256850.1:c.11300T>G NP_001243779.1:p.Leu3767Ter
NM_003319.4:c.11162T>G NP_003310.4:p.Leu3721Ter
NM_133378.4:c.10361-2622T>G NP_596869.4:n.10361-2622T>G
NM_133432.3:c.11537T>G NP_597676.3:p.Leu3846Ter
NM_133437.4:c.11738T>G NP_597681.4:p.Leu3913Ter
ENST00000342175.10:c.11738T>G ENSP00000340554.6:p.Leu3913Ter
ENST00000342175.11:c.11738T>G ENSP00000340554.6:p.Leu3913Ter
ENST00000342992.10:c.10361-2622T>G ENSP00000343764.6:n.10361-2622T>G
ENST00000342992.11:c.10361-2622T>G ENSP00000343764.6:n.10361-2622T>G
ENST00000359218.10:c.11537T>G ENSP00000352154.5:p.Leu3846Ter
ENST00000359218.9:c.11537T>G ENSP00000352154.5:p.Leu3846Ter
ENST00000460472.6:c.11162T>G ENSP00000434586.1:p.Leu3721Ter
ENST00000591111.5:c.11300T>G ENSP00000465570.1:p.Leu3767Ter
ENST00000615779.4:c.11300T>G ENSP00000483597.1:p.Leu3767Ter
XM_011511729.1:c.11348T>G XP_011510031.1:p.Leu3783Ter
XM_011511730.1:c.11348T>G XP_011510032.1:p.Leu3783Ter
XM_011511731.1:c.11207T>G XP_011510033.1:p.Leu3736Ter
XM_017004819.1:c.11303T>G XP_016860308.1:p.Leu3768Ter
XM_017004820.1:c.10364-2622T>G XP_016860309.1:n.10364-2622T>G
XM_017004821.1:c.10361-2622T>G XP_016860310.1:n.10361-2622T>G
XM_017004822.1:c.11303T>G XP_016860311.1:p.Leu3768Ter
XM_017004823.1:c.11303T>G XP_016860312.1:p.Leu3768Ter
XM_024453094.1:c.11303T>G XP_024308862.1:p.Leu3768Ter
XM_024453095.1:c.11303T>G XP_024308863.1:p.Leu3768Ter
XM_024453096.1:c.11303T>G XP_024308864.1:p.Leu3768Ter
XM_024453097.1:c.11303T>G XP_024308865.1:p.Leu3768Ter
XM_024453098.1:c.11303T>G XP_024308866.1:p.Leu3768Ter
XM_024453099.1:c.11303T>G XP_024308867.1:p.Leu3768Ter