Canonical Allele Identifier: CA6280252
Community Standard Title: NM_017868.4(TTC12):c.1678C>T (p.Arg560Ter)
Gene: TTC12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113362464C>T , CM000673.2:g.113362464C>T GRCh38
NC_000011.9:g.113233186C>T , CM000673.1:g.113233186C>T GRCh37
NC_000011.8:g.112738396C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017868.4:c.1678C>T MANE Select NP_060338.3:p.Arg560Ter
ENST00000529221.6:c.1678C>T MANE Select ENSP00000433757.1:p.Arg560Ter
NM_001318533.1:c.1696C>T NP_001305462.1:p.Arg566Ter
NM_001318533.2:c.1696C>T NP_001305462.1:p.Arg566Ter
NM_001352037.1:c.1603C>T NP_001338966.1:p.Arg535Ter
NM_001352037.2:c.1603C>T NP_001338966.1:p.Arg535Ter
NM_001352038.1:c.1228C>T NP_001338967.1:p.Arg410Ter
NM_001352038.2:c.1228C>T NP_001338967.1:p.Arg410Ter
NM_001378063.1:c.1681C>T NP_001364992.1:p.Arg561Ter
NM_001378064.1:c.1678C>T NP_001364993.1:p.Arg560Ter
NM_001378065.1:c.1678C>T NP_001364994.1:p.Arg560Ter
NM_017868.3:c.1678C>T NP_060338.3:p.Arg560Ter
NR_147891.1:n.1783C>T
NR_147891.2:n.1729C>T
NR_165392.1:n.2413C>T
NR_165393.1:n.1213C>T
ENST00000314756.7:c.1678C>T ENSP00000315160.3:p.Arg560Ter
ENST00000393020.5:c.1678C>T ENSP00000376743.1:p.Arg560Ter
ENST00000462711.2:c.13C>T ENSP00000435730.1:p.Arg5Ter
ENST00000464224.5:c.*1392C>T ENSP00000437030.1:n.*1392C>T
ENST00000483239.6:c.1696C>T ENSP00000419652.2:p.Arg566Ter
ENST00000494714.5:c.1678C>T ENSP00000435291.1:p.Arg560Ter
ENST00000529221.5:c.1678C>T ENSP00000433757.1:p.Arg560Ter
XM_005271604.3:c.1678C>T XP_005271661.1:p.Arg560Ter
XM_011542884.1:c.1678C>T XP_011541186.1:p.Arg560Ter
XM_011542885.1:c.1678C>T XP_011541187.1:p.Arg560Ter
XM_011542886.1:c.1678C>T XP_011541188.1:p.Arg560Ter
XM_011542887.1:c.1678C>T XP_011541189.1:p.Arg560Ter
XM_011542888.1:c.1678C>T XP_011541190.1:p.Arg560Ter
XM_011542889.1:c.1678C>T XP_011541191.1:p.Arg560Ter
XM_011542890.1:c.1228C>T XP_011541192.1:p.Arg410Ter
XM_017017943.2:c.1678C>T XP_016873432.1:p.Arg560Ter
XM_017017944.2:c.1678C>T XP_016873433.1:p.Arg560Ter
XM_017017945.1:c.1678C>T XP_016873434.1:p.Arg560Ter
XM_017017946.1:c.1678C>T XP_016873435.1:p.Arg560Ter
XM_017017947.2:c.1678C>T XP_016873436.1:p.Arg560Ter
XM_017017948.2:c.1678C>T XP_016873437.1:p.Arg560Ter
XM_017017949.2:c.1678C>T XP_016873438.1:p.Arg560Ter
XM_017017950.2:c.1678C>T XP_016873439.1:p.Arg560Ter
XM_024448594.1:c.1678C>T XP_024304362.1:p.Arg560Ter
XM_024448595.1:c.1678C>T XP_024304363.1:p.Arg560Ter
XM_024448596.1:c.1678C>T XP_024304364.1:p.Arg560Ter
XM_024448597.1:c.1228C>T XP_024304365.1:p.Arg410Ter
XR_001747914.2:n.1743C>T
XR_947856.1:n.1999C>T