Canonical Allele Identifier: CA1803221818
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780892G= , CM000670.2:g.93780892G= GRCh38
NC_000008.10:g.94793120G= , CM000670.1:g.94793120G= GRCh37
NC_000008.9:g.94862296G= NCBI36
NG_009190.1:g.31049G= , LRG_688:g.31049G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.888G= ENSP00000314488.4:p.Trp296=
ENST00000409623.8:c.888G= ENSP00000386966.4:p.Trp296=
ENST00000452276.6:c.888G= ENSP00000388671.2:p.Trp296=
ENST00000453906.6:c.407-5331G= ENSP00000403035.2:n.407-5331G=
ENST00000520680.2:c.888G= ENSP00000428785.2:p.Trp296=
ENST00000521065.2:c.*605G= ENSP00000427947.2:n.*605G=
ENST00000521517.6:c.888G= ENSP00000430740.2:p.Trp296=
ENST00000681998.1:c.799+145G= ENSP00000506773.1:n.799+145G=
ENST00000682036.1:c.407-5331G= ENSP00000508390.1:n.407-5331G=
ENST00000682577.1:c.818G= ENSP00000506963.1:n.818G=
ENST00000682624.1:c.*462G= ENSP00000508343.1:n.*462G=
ENST00000682700.1:c.888G= ENSP00000507627.1:p.Trp296=
ENST00000682744.1:n.426G=
ENST00000682804.1:n.711G=
ENST00000682837.1:c.624+145G= ENSP00000507920.1:n.624+145G=
ENST00000682935.1:n.2448G=
ENST00000682984.1:c.549G= ENSP00000507209.1:p.Trp183=
ENST00000683078.1:c.643G= ENSP00000506796.1:n.643G=
ENST00000683223.1:c.710+145G= ENSP00000507685.1:n.710+145G=
ENST00000683238.1:n.2269G=
ENST00000683249.1:n.2485G=
ENST00000683336.1:c.799+145G= ENSP00000507695.1:n.799+145G=
ENST00000683362.1:c.549G= ENSP00000506985.1:p.Trp183=
ENST00000683850.1:n.811G=
ENST00000683919.1:c.818G= ENSP00000507617.1:n.818G=
ENST00000683953.1:c.799G= ENSP00000508375.1:n.799G=
ENST00000684023.1:c.1022G= ENSP00000507461.1:n.1022G=
ENST00000684064.1:c.579G= ENSP00000508192.1:p.Trp193=
ENST00000684089.1:n.2438G=
ENST00000684149.1:c.*224G= ENSP00000507943.1:n.*224G=
ENST00000684416.1:n.847G=
ENST00000684540.1:c.818G= ENSP00000507987.1:n.818G=
ENST00000453321.8:c.888G= MANE Select ENSP00000389998.3:p.Trp296=
ENST00000323130.7:c.858G= ENSP00000314488.3:p.Trp286=
ENST00000409623.7:c.645G= ENSP00000386966.3:p.Trp215=
ENST00000425545.2:n.335G=
ENST00000452276.5:c.579G= ENSP00000388671.1:p.Trp193=
ENST00000453321.7:c.888G= ENSP00000389998.3:p.Trp296=
ENST00000453906.5:c.407-5331G= ENSP00000403035.1:n.407-5331G=
ENST00000474944.5:n.427-5331G=
ENST00000496213.5:n.353G=
NM_001142301.1:c.645G= , LRG_688t2:c.645G= NP_001135773.1:p.Trp215=
NM_153704.5:c.888G= , LRG_688t1:c.888G= NP_714915.3:p.Trp296=
NR_024522.1:n.959G=
XM_006716686.2:c.585G= XP_006716749.1:p.Trp195=
XM_006716687.2:c.288G= XP_006716750.1:p.Trp96=
XM_011517363.1:c.407-5331G= XP_011515665.1:n.407-5331G=
XR_428387.1:n.946G=
XR_928360.1:n.946G=
XR_928361.1:n.946G=
XR_928362.1:n.946G=
XM_006716686.4:c.585G= XP_006716749.1:p.Trp195=
XM_011517363.3:c.407-5331G= XP_011515665.1:n.407-5331G=
XM_024447326.1:c.234G= XP_024303094.1:p.Trp78=
XR_001745619.2:n.929G=
XR_428387.2:n.929G=
XR_928360.3:n.929G=
XR_928362.3:n.929G=
NM_153704.6:c.888G= MANE Select NP_714915.3:p.Trp296=
NR_024522.2:n.909G=