Canonical Allele Identifier: CA6280261
Community Standard Title: NM_017868.4(TTC12):c.1700T>G (p.Met567Arg)
Gene: TTC12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113362486T>G , CM000673.2:g.113362486T>G GRCh38
NC_000011.9:g.113233208T>G , CM000673.1:g.113233208T>G GRCh37
NC_000011.8:g.112738418T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017868.4:c.1700T>G MANE Select NP_060338.3:p.Met567Arg
ENST00000529221.6:c.1700T>G MANE Select ENSP00000433757.1:p.Met567Arg
NM_001318533.1:c.1718T>G NP_001305462.1:p.Met573Arg
NM_001318533.2:c.1718T>G NP_001305462.1:p.Met573Arg
NM_001352037.1:c.1625T>G NP_001338966.1:p.Met542Arg
NM_001352037.2:c.1625T>G NP_001338966.1:p.Met542Arg
NM_001352038.1:c.1250T>G NP_001338967.1:p.Met417Arg
NM_001352038.2:c.1250T>G NP_001338967.1:p.Met417Arg
NM_001378063.1:c.1703T>G NP_001364992.1:p.Met568Arg
NM_001378064.1:c.1700T>G NP_001364993.1:p.Met567Arg
NM_001378065.1:c.1700T>G NP_001364994.1:p.Met567Arg
NM_017868.3:c.1700T>G NP_060338.3:p.Met567Arg
NR_147891.1:n.1805T>G
NR_147891.2:n.1751T>G
NR_165392.1:n.2435T>G
NR_165393.1:n.1235T>G
ENST00000314756.7:c.1700T>G ENSP00000315160.3:p.Met567Arg
ENST00000393020.5:c.1700T>G ENSP00000376743.1:p.Met567Arg
ENST00000462711.2:c.35T>G ENSP00000435730.1:p.Met12Arg
ENST00000464224.5:c.*1414T>G ENSP00000437030.1:n.*1414T>G
ENST00000483239.6:c.1718T>G ENSP00000419652.2:p.Met573Arg
ENST00000494714.5:c.1700T>G ENSP00000435291.1:p.Met567Arg
ENST00000529221.5:c.1700T>G ENSP00000433757.1:p.Met567Arg
XM_005271604.3:c.1700T>G XP_005271661.1:p.Met567Arg
XM_011542884.1:c.1700T>G XP_011541186.1:p.Met567Arg
XM_011542885.1:c.1700T>G XP_011541187.1:p.Met567Arg
XM_011542886.1:c.1700T>G XP_011541188.1:p.Met567Arg
XM_011542887.1:c.1700T>G XP_011541189.1:p.Met567Arg
XM_011542888.1:c.1700T>G XP_011541190.1:p.Met567Arg
XM_011542889.1:c.1700T>G XP_011541191.1:p.Met567Arg
XM_011542890.1:c.1250T>G XP_011541192.1:p.Met417Arg
XM_017017943.2:c.1700T>G XP_016873432.1:p.Met567Arg
XM_017017944.2:c.1700T>G XP_016873433.1:p.Met567Arg
XM_017017945.1:c.1700T>G XP_016873434.1:p.Met567Arg
XM_017017946.1:c.1700T>G XP_016873435.1:p.Met567Arg
XM_017017947.2:c.1700T>G XP_016873436.1:p.Met567Arg
XM_017017948.2:c.1700T>G XP_016873437.1:p.Met567Arg
XM_017017949.2:c.1700T>G XP_016873438.1:p.Met567Arg
XM_017017950.2:c.1700T>G XP_016873439.1:p.Met567Arg
XM_024448594.1:c.1700T>G XP_024304362.1:p.Met567Arg
XM_024448595.1:c.1700T>G XP_024304363.1:p.Met567Arg
XM_024448596.1:c.1700T>G XP_024304364.1:p.Met567Arg
XM_024448597.1:c.1250T>G XP_024304365.1:p.Met417Arg
XR_001747914.2:n.1765T>G
XR_947856.1:n.2021T>G