Canonical Allele Identifier: CA1803221281
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780640G= , CM000670.2:g.93780640G= GRCh38
NC_000008.10:g.94792868G= , CM000670.1:g.94792868G= GRCh37
NC_000008.9:g.94862044G= NCBI36
NG_009190.1:g.30797G= , LRG_688:g.30797G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.762G= ENSP00000314488.4:p.Val254=
ENST00000409623.8:c.762G= ENSP00000386966.4:p.Val254=
ENST00000452276.6:c.762G= ENSP00000388671.2:p.Val254=
ENST00000453906.6:c.407-5583G= ENSP00000403035.2:n.407-5583G=
ENST00000520680.2:c.762G= ENSP00000428785.2:p.Val254=
ENST00000521065.2:c.*479G= ENSP00000427947.2:n.*479G=
ENST00000521517.6:c.762G= ENSP00000430740.2:p.Val254=
ENST00000681998.1:c.692G= ENSP00000506773.1:n.692G=
ENST00000682036.1:c.407-5583G= ENSP00000508390.1:n.407-5583G=
ENST00000682577.1:c.692G= ENSP00000506963.1:n.692G=
ENST00000682624.1:c.*336G= ENSP00000508343.1:n.*336G=
ENST00000682700.1:c.762G= ENSP00000507627.1:p.Val254=
ENST00000682744.1:n.300G=
ENST00000682804.1:n.585G=
ENST00000682837.1:c.517G= ENSP00000507920.1:p.Asp173=
ENST00000682935.1:n.2322G=
ENST00000682984.1:c.423G= ENSP00000507209.1:p.Val141=
ENST00000683078.1:c.517G= ENSP00000506796.1:p.Asp173=
ENST00000683223.1:c.603G= ENSP00000507685.1:n.603G=
ENST00000683238.1:n.2143G=
ENST00000683249.1:n.2343G=
ENST00000683336.1:c.692G= ENSP00000507695.1:n.692G=
ENST00000683362.1:c.423G= ENSP00000506985.1:p.Val141=
ENST00000683850.1:n.685G=
ENST00000683919.1:c.692G= ENSP00000507617.1:n.692G=
ENST00000683953.1:c.673G= ENSP00000508375.1:n.673G=
ENST00000684023.1:c.896G= ENSP00000507461.1:n.896G=
ENST00000684064.1:c.453G= ENSP00000508192.1:p.Val151=
ENST00000684089.1:n.2312G=
ENST00000684149.1:c.*98G= ENSP00000507943.1:n.*98G=
ENST00000684416.1:n.721G=
ENST00000684540.1:c.692G= ENSP00000507987.1:n.692G=
ENST00000453321.8:c.762G= MANE Select ENSP00000389998.3:p.Val254=
ENST00000323130.7:c.732G= ENSP00000314488.3:p.Val244=
ENST00000409623.7:c.519G= ENSP00000386966.3:p.Val173=
ENST00000425545.2:n.209G=
ENST00000452276.5:c.453G= ENSP00000388671.1:p.Val151=
ENST00000453321.7:c.762G= ENSP00000389998.3:p.Val254=
ENST00000453906.5:c.407-5583G= ENSP00000403035.1:n.407-5583G=
ENST00000474944.5:n.427-5583G=
ENST00000496213.5:n.227G=
NM_001142301.1:c.519G= , LRG_688t2:c.519G= NP_001135773.1:p.Val173=
NM_153704.5:c.762G= , LRG_688t1:c.762G= NP_714915.3:p.Val254=
NR_024522.1:n.833G=
XM_006716686.2:c.459G= XP_006716749.1:p.Val153=
XM_006716687.2:c.162G= XP_006716750.1:p.Val54=
XM_011517363.1:c.407-5583G= XP_011515665.1:n.407-5583G=
XR_428387.1:n.820G=
XR_928360.1:n.820G=
XR_928361.1:n.820G=
XR_928362.1:n.820G=
XM_006716686.4:c.459G= XP_006716749.1:p.Val153=
XM_011517363.3:c.407-5583G= XP_011515665.1:n.407-5583G=
XM_024447326.1:c.108G= XP_024303094.1:p.Val36=
XR_001745619.2:n.803G=
XR_428387.2:n.803G=
XR_928360.3:n.803G=
XR_928362.3:n.803G=
NM_153704.6:c.762G= MANE Select NP_714915.3:p.Val254=
NR_024522.2:n.783G=