Canonical Allele Identifier: CA1803221267
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780635T= , CM000670.2:g.93780635T= GRCh38
NC_000008.10:g.94792863T= , CM000670.1:g.94792863T= GRCh37
NC_000008.9:g.94862039T= NCBI36
NG_009190.1:g.30792T= , LRG_688:g.30792T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.757T= ENSP00000314488.4:p.Cys253=
ENST00000409623.8:c.757T= ENSP00000386966.4:p.Cys253=
ENST00000452276.6:c.757T= ENSP00000388671.2:p.Cys253=
ENST00000453906.6:c.407-5588T= ENSP00000403035.2:n.407-5588T=
ENST00000520680.2:c.757T= ENSP00000428785.2:p.Cys253=
ENST00000521065.2:c.*474T= ENSP00000427947.2:n.*474T=
ENST00000521517.6:c.757T= ENSP00000430740.2:p.Cys253=
ENST00000681998.1:c.687T= ENSP00000506773.1:n.687T=
ENST00000682036.1:c.407-5588T= ENSP00000508390.1:n.407-5588T=
ENST00000682577.1:c.687T= ENSP00000506963.1:n.687T=
ENST00000682624.1:c.*331T= ENSP00000508343.1:n.*331T=
ENST00000682700.1:c.757T= ENSP00000507627.1:p.Cys253=
ENST00000682744.1:n.295T=
ENST00000682804.1:n.580T=
ENST00000682837.1:c.512T= ENSP00000507920.1:p.Val171=
ENST00000682935.1:n.2317T=
ENST00000682984.1:c.418T= ENSP00000507209.1:p.Cys140=
ENST00000683078.1:c.512T= ENSP00000506796.1:p.Val171=
ENST00000683223.1:c.598T= ENSP00000507685.1:n.598T=
ENST00000683238.1:n.2138T=
ENST00000683249.1:n.2338T=
ENST00000683336.1:c.687T= ENSP00000507695.1:n.687T=
ENST00000683362.1:c.418T= ENSP00000506985.1:p.Cys140=
ENST00000683850.1:n.680T=
ENST00000683919.1:c.687T= ENSP00000507617.1:n.687T=
ENST00000683953.1:c.668T= ENSP00000508375.1:n.668T=
ENST00000684023.1:c.891T= ENSP00000507461.1:n.891T=
ENST00000684064.1:c.448T= ENSP00000508192.1:p.Cys150=
ENST00000684089.1:n.2307T=
ENST00000684149.1:c.*93T= ENSP00000507943.1:n.*93T=
ENST00000684416.1:n.716T=
ENST00000684540.1:c.687T= ENSP00000507987.1:n.687T=
ENST00000453321.8:c.757T= MANE Select ENSP00000389998.3:p.Cys253=
ENST00000323130.7:c.727T= ENSP00000314488.3:p.Cys243=
ENST00000409623.7:c.514T= ENSP00000386966.3:p.Cys172=
ENST00000425545.2:n.204T=
ENST00000452276.5:c.448T= ENSP00000388671.1:p.Cys150=
ENST00000453321.7:c.757T= ENSP00000389998.3:p.Cys253=
ENST00000453906.5:c.407-5588T= ENSP00000403035.1:n.407-5588T=
ENST00000474944.5:n.427-5588T=
ENST00000496213.5:n.222T=
NM_001142301.1:c.514T= , LRG_688t2:c.514T= NP_001135773.1:p.Cys172=
NM_153704.5:c.757T= , LRG_688t1:c.757T= NP_714915.3:p.Cys253=
NR_024522.1:n.828T=
XM_006716686.2:c.454T= XP_006716749.1:p.Cys152=
XM_006716687.2:c.157T= XP_006716750.1:p.Cys53=
XM_011517363.1:c.407-5588T= XP_011515665.1:n.407-5588T=
XR_428387.1:n.815T=
XR_928360.1:n.815T=
XR_928361.1:n.815T=
XR_928362.1:n.815T=
XM_006716686.4:c.454T= XP_006716749.1:p.Cys152=
XM_011517363.3:c.407-5588T= XP_011515665.1:n.407-5588T=
XM_024447326.1:c.103T= XP_024303094.1:p.Cys35=
XR_001745619.2:n.798T=
XR_428387.2:n.798T=
XR_928360.3:n.798T=
XR_928362.3:n.798T=
NM_153704.6:c.757T= MANE Select NP_714915.3:p.Cys253=
NR_024522.2:n.778T=