Canonical Allele Identifier: CA1994975
Community Standard Title: NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617229G>A , CM000664.2:g.178617229G>A GRCh38
NC_000002.11:g.179481956G>A , CM000664.1:g.179481956G>A GRCh37
NC_000002.10:g.179190201G>A NCBI36
NG_011618.3:g.218574C>T , LRG_391:g.218574C>T
NG_051363.1:g.99403G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47766C>T (TTN) MANE Select NP_001254479.2:p.Thr15922=
ENST00000589042.5:c.47766C>T (TTN) MANE Select ENSP00000467141.1:p.Thr15922=
NM_001256850.1:c.42843C>T (TTN) NP_001243779.1:p.Thr14281=
NM_003319.4:c.20571C>T (TTN) NP_003310.4:p.Thr6857=
NM_133378.4:c.40062C>T (TTN) NP_596869.4:p.Thr13354=
NM_133432.3:c.20946C>T (TTN) NP_597676.3:p.Thr6982=
NM_133437.4:c.21147C>T (TTN) NP_597681.4:p.Thr7049=
NR_038271.1:n.1604+1855G>A (TTN-AS1)
ENST00000342175.10:c.21147C>T (TTN) ENSP00000340554.6:p.Thr7049=
ENST00000342175.11:c.21147C>T (TTN) ENSP00000340554.6:p.Thr7049=
ENST00000342992.10:c.40062C>T (TTN) ENSP00000343764.6:p.Thr13354=
ENST00000342992.11:c.40062C>T (TTN) ENSP00000343764.6:p.Thr13354=
ENST00000359218.10:c.20946C>T (TTN) ENSP00000352154.5:p.Thr6982=
ENST00000359218.9:c.20946C>T (TTN) ENSP00000352154.5:p.Thr6982=
ENST00000460472.6:c.20571C>T (TTN) ENSP00000434586.1:p.Thr6857=
ENST00000591111.5:c.42843C>T (TTN) ENSP00000465570.1:p.Thr14281=
ENST00000615779.4:c.42843C>T (TTN) ENSP00000483597.1:p.Thr14281=
XM_011511729.1:c.46863C>T (TTN) XP_011510031.1:p.Thr15621=
XM_011511730.1:c.20757C>T (TTN) XP_011510032.1:p.Thr6919=
XM_011511731.1:c.20616C>T (TTN) XP_011510033.1:p.Thr6872=
XM_017004819.1:c.46659C>T (TTN) XP_016860308.1:p.Thr15553=
XM_017004820.1:c.42057C>T (TTN) XP_016860309.1:p.Thr14019=
XM_017004821.1:c.42054C>T (TTN) XP_016860310.1:p.Thr14018=
XM_017004822.1:c.39096C>T (TTN) XP_016860311.1:p.Thr13032=
XM_017004823.1:c.20712C>T (TTN) XP_016860312.1:p.Thr6904=
XM_024453094.1:c.42207C>T (TTN) XP_024308862.1:p.Thr14069=
XM_024453095.1:c.42204C>T (TTN) XP_024308863.1:p.Thr14068=
XM_024453096.1:c.41637C>T (TTN) XP_024308864.1:p.Thr13879=
XM_024453097.1:c.38979C>T (TTN) XP_024308865.1:p.Thr12993=
XM_024453098.1:c.38898C>T (TTN) XP_024308866.1:p.Thr12966=
XM_024453099.1:c.20661C>T (TTN) XP_024308867.1:p.Thr6887=
XM_024453100.1:c.10515C>T (TTN) XP_024308868.1:p.Thr3505=