Canonical Allele Identifier: CA371698151
Community Standard Title: NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93804813A>G , CM000670.2:g.93804813A>G GRCh38
NC_000008.10:g.94817041A>G , CM000670.1:g.94817041A>G GRCh37
NC_000008.9:g.94886217A>G NCBI36
NG_009190.1:g.54970A>G , LRG_688:g.54970A>G

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2374A>G MANE Select NP_714915.3:p.Arg792Gly
ENST00000453321.8:c.2374A>G MANE Select ENSP00000389998.3:p.Arg792Gly
NM_001142301.1:c.2131A>G , LRG_688t2:c.2131A>G NP_001135773.1:p.Arg711Gly
NM_153704.5:c.2374A>G , LRG_688t1:c.2374A>G NP_714915.3:p.Arg792Gly
NR_024522.1:n.2445A>G
NR_024522.2:n.2395A>G
ENST00000323130.7:c.2344A>G ENSP00000314488.3:p.Arg782Gly
ENST00000323130.8:c.2374A>G ENSP00000314488.4:p.Arg792Gly
ENST00000409623.7:c.2131A>G ENSP00000386966.3:p.Arg711Gly
ENST00000409623.8:c.2329A>G ENSP00000386966.4:p.Arg777Gly
ENST00000452276.6:c.2322+1129A>G ENSP00000388671.2:n.2322+1129A>G
ENST00000453321.7:c.2374A>G ENSP00000389998.3:p.Arg792Gly
ENST00000453906.6:c.1492A>G ENSP00000403035.2:p.Arg498Gly
ENST00000474944.5:n.1512A>G
ENST00000518896.2:c.665A>G ENSP00000507992.1:n.665A>G
ENST00000519845.5:n.1106A>G
ENST00000520680.2:c.2497A>G ENSP00000428785.2:p.Arg833Gly
ENST00000521517.6:c.2275A>G ENSP00000430740.2:p.Arg759Gly
ENST00000681998.1:c.2195A>G ENSP00000506773.1:n.2195A>G
ENST00000682036.1:c.1615A>G ENSP00000508390.1:p.Arg539Gly
ENST00000682577.1:c.2147A>G ENSP00000506963.1:n.2147A>G
ENST00000682624.1:c.*1948A>G ENSP00000508343.1:n.*1948A>G
ENST00000682700.1:c.2374A>G ENSP00000507627.1:p.Arg792Gly
ENST00000682744.1:n.1912A>G
ENST00000682804.1:n.2197A>G
ENST00000682837.1:c.1863A>G ENSP00000507920.1:n.1863A>G
ENST00000682935.1:n.4424A>G
ENST00000682984.1:c.2035A>G ENSP00000507209.1:p.Arg679Gly
ENST00000683078.1:c.2129A>G ENSP00000506796.1:n.2129A>G
ENST00000683223.1:c.2106A>G ENSP00000507685.1:n.2106A>G
ENST00000683238.1:n.3598A>G
ENST00000683249.1:n.3971A>G
ENST00000683336.1:c.2195A>G ENSP00000507695.1:n.2195A>G
ENST00000683362.1:c.2035A>G ENSP00000506985.1:p.Arg679Gly
ENST00000683850.1:n.2297A>G
ENST00000683919.1:c.2304A>G ENSP00000507617.1:n.2304A>G
ENST00000683953.1:c.2285A>G ENSP00000508375.1:n.2285A>G
ENST00000684023.1:c.2351A>G ENSP00000507461.1:n.2351A>G
ENST00000684064.1:c.2065A>G ENSP00000508192.1:p.Arg689Gly
ENST00000684089.1:n.3924A>G
ENST00000684149.1:c.*1553A>G ENSP00000507943.1:n.*1553A>G
ENST00000684343.1:c.571A>G ENSP00000507591.1:p.Arg191Gly
ENST00000684416.1:n.2333A>G
ENST00000684540.1:c.2304A>G ENSP00000507987.1:n.2304A>G
XM_006716686.2:c.2071A>G XP_006716749.1:p.Arg691Gly
XM_006716686.4:c.2071A>G XP_006716749.1:p.Arg691Gly
XM_006716687.2:c.1774A>G XP_006716750.1:p.Arg592Gly
XM_011517363.1:c.1492A>G XP_011515665.1:p.Arg498Gly
XM_011517363.3:c.1492A>G XP_011515665.1:p.Arg498Gly
XM_024447326.1:c.1720A>G XP_024303094.1:p.Arg574Gly
XR_001745619.2:n.2415A>G
XR_428387.1:n.2432A>G
XR_428387.2:n.2415A>G
XR_928360.1:n.2432A>G
XR_928360.3:n.2415A>G
XR_928361.1:n.2432A>G
XR_928362.1:n.2432A>G
XR_928362.3:n.2415A>G