Canonical Allele Identifier: CA349632734
Community Standard Title: NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620943G>A , CM000664.2:g.178620943G>A GRCh38
NC_000002.11:g.179485670G>A , CM000664.1:g.179485670G>A GRCh37
NC_000002.10:g.179193915G>A NCBI36
NG_011618.3:g.214860C>T , LRG_391:g.214860C>T
NG_051363.1:g.103117G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45667C>T MANE Select NP_001254479.2:p.Gln15223Ter
ENST00000589042.5:c.45667C>T MANE Select ENSP00000467141.1:p.Gln15223Ter
NM_001256850.1:c.40744C>T NP_001243779.1:p.Gln13582Ter
NM_003319.4:c.18472C>T NP_003310.4:p.Gln6158Ter
NM_133378.4:c.37963C>T NP_596869.4:p.Gln12655Ter
NM_133432.3:c.18847C>T NP_597676.3:p.Gln6283Ter
NM_133437.4:c.19048C>T NP_597681.4:p.Gln6350Ter
ENST00000342175.10:c.19048C>T ENSP00000340554.6:p.Gln6350Ter
ENST00000342175.11:c.19048C>T ENSP00000340554.6:p.Gln6350Ter
ENST00000342992.10:c.37963C>T ENSP00000343764.6:p.Gln12655Ter
ENST00000342992.11:c.37963C>T ENSP00000343764.6:p.Gln12655Ter
ENST00000359218.10:c.18847C>T ENSP00000352154.5:p.Gln6283Ter
ENST00000359218.9:c.18847C>T ENSP00000352154.5:p.Gln6283Ter
ENST00000460472.6:c.18472C>T ENSP00000434586.1:p.Gln6158Ter
ENST00000591111.5:c.40744C>T ENSP00000465570.1:p.Gln13582Ter
ENST00000615779.4:c.40744C>T ENSP00000483597.1:p.Gln13582Ter
XM_011511729.1:c.44764C>T XP_011510031.1:p.Gln14922Ter
XM_011511730.1:c.18658C>T XP_011510032.1:p.Gln6220Ter
XM_011511731.1:c.18517C>T XP_011510033.1:p.Gln6173Ter
XM_017004819.1:c.44560C>T XP_016860308.1:p.Gln14854Ter
XM_017004820.1:c.39958C>T XP_016860309.1:p.Gln13320Ter
XM_017004821.1:c.39955C>T XP_016860310.1:p.Gln13319Ter
XM_017004822.1:c.36997C>T XP_016860311.1:p.Gln12333Ter
XM_017004823.1:c.18613C>T XP_016860312.1:p.Gln6205Ter
XM_024453094.1:c.40108C>T XP_024308862.1:p.Gln13370Ter
XM_024453095.1:c.40105C>T XP_024308863.1:p.Gln13369Ter
XM_024453096.1:c.39538C>T XP_024308864.1:p.Gln13180Ter
XM_024453097.1:c.36880C>T XP_024308865.1:p.Gln12294Ter
XM_024453098.1:c.36799C>T XP_024308866.1:p.Gln12267Ter
XM_024453099.1:c.18562C>T XP_024308867.1:p.Gln6188Ter
XM_024453100.1:c.8416C>T XP_024308868.1:p.Gln2806Ter