Canonical Allele Identifier: CA144461
Community Standard Title: NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93804796G>A , CM000670.2:g.93804796G>A GRCh38
NC_000008.10:g.94817024G>A , CM000670.1:g.94817024G>A GRCh37
NC_000008.9:g.94886200G>A NCBI36
NG_009190.1:g.54953G>A , LRG_688:g.54953G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2357G>A MANE Select NP_714915.3:p.Gly786Glu
ENST00000453321.8:c.2357G>A MANE Select ENSP00000389998.3:p.Gly786Glu
NM_001142301.1:c.2114G>A , LRG_688t2:c.2114G>A NP_001135773.1:p.Gly705Glu
NM_153704.5:c.2357G>A , LRG_688t1:c.2357G>A NP_714915.3:p.Gly786Glu
NR_024522.1:n.2428G>A
NR_024522.2:n.2378G>A
ENST00000323130.7:c.2327G>A ENSP00000314488.3:p.Gly776Glu
ENST00000323130.8:c.2357G>A ENSP00000314488.4:p.Gly786Glu
ENST00000409623.7:c.2114G>A ENSP00000386966.3:p.Gly705Glu
ENST00000409623.8:c.2312G>A ENSP00000386966.4:p.Gly771Glu
ENST00000452276.6:c.2322+1112G>A ENSP00000388671.2:n.2322+1112G>A
ENST00000453321.7:c.2357G>A ENSP00000389998.3:p.Gly786Glu
ENST00000453906.6:c.1475G>A ENSP00000403035.2:p.Gly492Glu
ENST00000474944.5:n.1495G>A
ENST00000518896.2:c.648G>A ENSP00000507992.1:n.648G>A
ENST00000519845.5:n.1089G>A
ENST00000520680.2:c.2480G>A ENSP00000428785.2:p.Gly827Glu
ENST00000521517.6:c.2258G>A ENSP00000430740.2:p.Gly753Glu
ENST00000681998.1:c.2178G>A ENSP00000506773.1:n.2178G>A
ENST00000682036.1:c.1598G>A ENSP00000508390.1:p.Gly533Glu
ENST00000682577.1:c.2130G>A ENSP00000506963.1:n.2130G>A
ENST00000682624.1:c.*1931G>A ENSP00000508343.1:n.*1931G>A
ENST00000682700.1:c.2357G>A ENSP00000507627.1:p.Gly786Glu
ENST00000682744.1:n.1895G>A
ENST00000682804.1:n.2180G>A
ENST00000682837.1:c.1846G>A ENSP00000507920.1:n.1846G>A
ENST00000682935.1:n.4407G>A
ENST00000682984.1:c.2018G>A ENSP00000507209.1:p.Gly673Glu
ENST00000683078.1:c.2112G>A ENSP00000506796.1:n.2112G>A
ENST00000683223.1:c.2089G>A ENSP00000507685.1:n.2089G>A
ENST00000683238.1:n.3581G>A
ENST00000683249.1:n.3954G>A
ENST00000683336.1:c.2178G>A ENSP00000507695.1:n.2178G>A
ENST00000683362.1:c.2018G>A ENSP00000506985.1:p.Gly673Glu
ENST00000683850.1:n.2280G>A
ENST00000683919.1:c.2287G>A ENSP00000507617.1:n.2287G>A
ENST00000683953.1:c.2268G>A ENSP00000508375.1:n.2268G>A
ENST00000684023.1:c.2334G>A ENSP00000507461.1:n.2334G>A
ENST00000684064.1:c.2048G>A ENSP00000508192.1:p.Gly683Glu
ENST00000684089.1:n.3907G>A
ENST00000684149.1:c.*1536G>A ENSP00000507943.1:n.*1536G>A
ENST00000684343.1:c.554G>A ENSP00000507591.1:p.Gly185Glu
ENST00000684416.1:n.2316G>A
ENST00000684540.1:c.2287G>A ENSP00000507987.1:n.2287G>A
XM_006716686.2:c.2054G>A XP_006716749.1:p.Gly685Glu
XM_006716686.4:c.2054G>A XP_006716749.1:p.Gly685Glu
XM_006716687.2:c.1757G>A XP_006716750.1:p.Gly586Glu
XM_011517363.1:c.1475G>A XP_011515665.1:p.Gly492Glu
XM_011517363.3:c.1475G>A XP_011515665.1:p.Gly492Glu
XM_024447326.1:c.1703G>A XP_024303094.1:p.Gly568Glu
XR_001745619.2:n.2398G>A
XR_428387.1:n.2415G>A
XR_428387.2:n.2398G>A
XR_928360.1:n.2415G>A
XR_928360.3:n.2398G>A
XR_928361.1:n.2415G>A
XR_928362.1:n.2415G>A
XR_928362.3:n.2398G>A