Canonical Allele Identifier: CA4807532
Community Standard Title: NM_153704.6(TMEM67):c.192T>C (p.Pro64=)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93755106T>C , CM000670.2:g.93755106T>C GRCh38
NC_000008.10:g.94767334T>C , CM000670.1:g.94767334T>C GRCh37
NC_000008.9:g.94836510T>C NCBI36
NG_009190.1:g.5263T>C , LRG_688:g.5263T>C

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.192T>C MANE Select NP_714915.3:p.Pro64=
ENST00000453321.8:c.192T>C MANE Select ENSP00000389998.3:p.Pro64=
NM_001142301.1:c.-93T>C , LRG_688t2:c.-93T>C NP_001135773.1:n.-93T>C
NM_153704.5:c.192T>C , LRG_688t1:c.192T>C NP_714915.3:p.Pro64=
NR_024522.1:n.263T>C
NR_024522.2:n.213T>C
ENST00000323130.7:c.162T>C ENSP00000314488.3:p.Pro54=
ENST00000323130.8:c.192T>C ENSP00000314488.4:p.Pro64=
ENST00000409623.7:c.-93T>C ENSP00000386966.3:n.-93T>C
ENST00000409623.8:c.192T>C ENSP00000386966.4:p.Pro64=
ENST00000452276.5:c.-118T>C ENSP00000388671.1:n.-118T>C
ENST00000452276.6:c.192T>C ENSP00000388671.2:p.Pro64=
ENST00000453321.7:c.192T>C ENSP00000389998.3:p.Pro64=
ENST00000453906.5:c.192T>C ENSP00000403035.1:p.Pro64=
ENST00000453906.6:c.192T>C ENSP00000403035.2:p.Pro64=
ENST00000455946.5:c.192T>C ENSP00000416339.1:p.Pro64=
ENST00000474944.5:n.212T>C
ENST00000475305.1:n.201T>C
ENST00000481620.1:n.195T>C
ENST00000498673.5:c.-331T>C ENSP00000430232.1:n.-331T>C
ENST00000518319.5:c.-324T>C ENSP00000430289.1:n.-324T>C
ENST00000520680.2:c.192T>C ENSP00000428785.2:p.Pro64=
ENST00000521065.1:c.187T>C
ENST00000521065.2:c.192T>C ENSP00000427947.2:p.Pro64=
ENST00000521222.5:c.192T>C ENSP00000429925.1:p.Pro64=
ENST00000521517.5:c.184T>C
ENST00000521517.6:c.192T>C ENSP00000430740.2:p.Pro64=
ENST00000681998.1:c.192T>C ENSP00000506773.1:p.Pro64=
ENST00000682036.1:c.192T>C ENSP00000508390.1:p.Pro64=
ENST00000682577.1:c.192T>C ENSP00000506963.1:p.Pro64=
ENST00000682624.1:c.192T>C ENSP00000508343.1:p.Pro64=
ENST00000682700.1:c.192T>C ENSP00000507627.1:p.Pro64=
ENST00000682804.1:n.85T>C
ENST00000682837.1:c.192T>C ENSP00000507920.1:p.Pro64=
ENST00000682935.1:n.192T>C
ENST00000682984.1:c.192T>C ENSP00000507209.1:p.Pro64=
ENST00000683078.1:c.192T>C ENSP00000506796.1:p.Pro64=
ENST00000683223.1:c.192T>C ENSP00000507685.1:p.Pro64=
ENST00000683238.1:n.13T>C
ENST00000683249.1:n.213T>C
ENST00000683336.1:c.192T>C ENSP00000507695.1:p.Pro64=
ENST00000683362.1:c.192T>C ENSP00000506985.1:p.Pro64=
ENST00000683850.1:n.115T>C
ENST00000683919.1:c.192T>C ENSP00000507617.1:p.Pro64=
ENST00000683953.1:c.192T>C ENSP00000508375.1:p.Pro64=
ENST00000684023.1:c.192T>C ENSP00000507461.1:p.Pro64=
ENST00000684064.1:c.-118T>C ENSP00000508192.1:n.-118T>C
ENST00000684089.1:n.182T>C
ENST00000684149.1:c.192T>C ENSP00000507943.1:p.Pro64=
ENST00000684416.1:n.110T>C
ENST00000684540.1:c.192T>C ENSP00000507987.1:p.Pro64=
ENST00000684733.1:n.216T>C
XM_006716686.2:c.-23T>C XP_006716749.1:n.-23T>C
XM_006716686.4:c.-23T>C XP_006716749.1:n.-23T>C
XM_011517363.1:c.192T>C XP_011515665.1:p.Pro64=
XM_011517363.3:c.192T>C XP_011515665.1:p.Pro64=
XM_024447326.1:c.-218T>C XP_024303094.1:n.-218T>C
XR_001745619.2:n.233T>C
XR_428387.1:n.250T>C
XR_428387.2:n.233T>C
XR_928360.1:n.250T>C
XR_928360.3:n.233T>C
XR_928361.1:n.250T>C
XR_928362.1:n.250T>C
XR_928362.3:n.233T>C