Canonical Allele Identifier: CA1803237465
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93808898T= , CM000670.2:g.93808898T= GRCh38
NC_000008.10:g.94821126T= , CM000670.1:g.94821126T= GRCh37
NC_000008.9:g.94890302T= NCBI36
NG_009190.1:g.59055T= , LRG_688:g.59055T=

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2498T= MANE Select NP_714915.3:p.Ile833=
ENST00000453321.8:c.2498T= MANE Select ENSP00000389998.3:p.Ile833=
NM_001142301.1:c.2255T= , LRG_688t2:c.2255T= NP_001135773.1:p.Ile752=
NM_153704.5:c.2498T= , LRG_688t1:c.2498T= NP_714915.3:p.Ile833=
NR_024522.1:n.2569T=
NR_024522.2:n.2519T=
ENST00000323130.7:c.2468T= ENSP00000314488.3:p.Ile823=
ENST00000323130.8:c.2498T= ENSP00000314488.4:p.Ile833=
ENST00000409623.7:c.2255T= ENSP00000386966.3:p.Ile752=
ENST00000409623.8:c.2453T= ENSP00000386966.4:p.Ile818=
ENST00000452276.6:c.2381T= ENSP00000388671.2:p.Ile794=
ENST00000453321.7:c.2498T= ENSP00000389998.3:p.Ile833=
ENST00000453906.6:c.1616T= ENSP00000403035.2:p.Ile539=
ENST00000474944.5:n.1636T=
ENST00000518896.2:c.789T= ENSP00000507992.1:n.789T=
ENST00000519845.5:n.1230T=
ENST00000520680.2:c.2621T= ENSP00000428785.2:p.Ile874=
ENST00000521517.6:c.2399T= ENSP00000430740.2:p.Ile800=
ENST00000681998.1:c.2319T= ENSP00000506773.1:n.2319T=
ENST00000682036.1:c.1739T= ENSP00000508390.1:p.Ile580=
ENST00000682577.1:c.2271T= ENSP00000506963.1:n.2271T=
ENST00000682624.1:c.*2072T= ENSP00000508343.1:n.*2072T=
ENST00000682700.1:c.2498T= ENSP00000507627.1:p.Ile833=
ENST00000682744.1:n.2036T=
ENST00000682804.1:n.2321T=
ENST00000682837.1:c.1987T= ENSP00000507920.1:n.1987T=
ENST00000682935.1:n.4548T=
ENST00000682984.1:c.2159T= ENSP00000507209.1:p.Ile720=
ENST00000683078.1:c.2253T= ENSP00000506796.1:n.2253T=
ENST00000683223.1:c.2230T= ENSP00000507685.1:n.2230T=
ENST00000683238.1:n.3722T=
ENST00000683249.1:n.4095T=
ENST00000683336.1:c.2319T= ENSP00000507695.1:n.2319T=
ENST00000683362.1:c.2159T= ENSP00000506985.1:p.Ile720=
ENST00000683850.1:n.2421T=
ENST00000683919.1:c.2428T= ENSP00000507617.1:n.2428T=
ENST00000683953.1:c.2409T= ENSP00000508375.1:n.2409T=
ENST00000684023.1:c.2475T= ENSP00000507461.1:n.2475T=
ENST00000684064.1:c.2189T= ENSP00000508192.1:p.Ile730=
ENST00000684089.1:n.4048T=
ENST00000684149.1:c.*1677T= ENSP00000507943.1:n.*1677T=
ENST00000684343.1:c.695T= ENSP00000507591.1:p.Ile232=
ENST00000684416.1:n.2457T=
ENST00000684540.1:c.2428T= ENSP00000507987.1:n.2428T=
XM_006716686.2:c.2195T= XP_006716749.1:p.Ile732=
XM_006716686.4:c.2195T= XP_006716749.1:p.Ile732=
XM_006716687.2:c.1898T= XP_006716750.1:p.Ile633=
XM_011517363.1:c.1616T= XP_011515665.1:p.Ile539=
XM_011517363.3:c.1616T= XP_011515665.1:p.Ile539=
XM_024447326.1:c.1844T= XP_024303094.1:p.Ile615=
XR_001745619.2:n.2539T=
XR_428387.1:n.2556T=
XR_428387.2:n.2539T=
XR_928360.1:n.2556T=
XR_928360.3:n.2539T=
XR_928361.1:n.2556T=
XR_928362.1:n.2556T=
XR_928362.3:n.2539T=