Canonical Allele Identifier: CA4807852

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93781717G>T , CM000670.2:g.93781717G>T	GRCh38
NC_000008.10:g.94793945G>T , CM000670.1:g.94793945G>T	GRCh37
NC_000008.9:g.94863121G>T	NCBI36
NG_009190.1:g.31874G>T , LRG_688:g.31874G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1038G>T MANE Select	NP_714915.3:p.Trp346Cys
ENST00000453321.8:c.1038G>T MANE Select	ENSP00000389998.3:p.Trp346Cys
NM_001142301.1:c.795G>T , LRG_688t2:c.795G>T	NP_001135773.1:p.Trp265Cys
NM_153704.5:c.1038G>T , LRG_688t1:c.1038G>T	NP_714915.3:p.Trp346Cys
NR_024522.1:n.1109G>T
NR_024522.2:n.1059G>T
ENST00000323130.7:c.1008G>T	ENSP00000314488.3:p.Trp336Cys
ENST00000323130.8:c.1038G>T	ENSP00000314488.4:p.Trp346Cys
ENST00000409623.7:c.795G>T	ENSP00000386966.3:p.Trp265Cys
ENST00000409623.8:c.1038G>T	ENSP00000386966.4:p.Trp346Cys
ENST00000425545.2:n.485G>T
ENST00000452276.5:c.729G>T	ENSP00000388671.1:p.Trp243Cys
ENST00000452276.6:c.1038G>T	ENSP00000388671.2:p.Trp346Cys
ENST00000453321.7:c.1038G>T	ENSP00000389998.3:p.Trp346Cys
ENST00000453906.5:c.407-4506G>T	ENSP00000403035.1:n.407-4506G>T
ENST00000453906.6:c.407-4506G>T	ENSP00000403035.2:n.407-4506G>T
ENST00000474944.5:n.427-4506G>T
ENST00000520680.2:c.1038G>T	ENSP00000428785.2:p.Trp346Cys
ENST00000521065.2:c.*755G>T	ENSP00000427947.2:n.*755G>T
ENST00000521517.6:c.1038G>T	ENSP00000430740.2:p.Trp346Cys
ENST00000681998.1:c.859G>T	ENSP00000506773.1:n.859G>T
ENST00000682036.1:c.407-4506G>T	ENSP00000508390.1:n.407-4506G>T
ENST00000682577.1:c.968G>T	ENSP00000506963.1:n.968G>T
ENST00000682624.1:c.*612G>T	ENSP00000508343.1:n.*612G>T
ENST00000682700.1:c.1038G>T	ENSP00000507627.1:p.Trp346Cys
ENST00000682744.1:n.576G>T
ENST00000682804.1:n.861G>T
ENST00000682837.1:c.684G>T	ENSP00000507920.1:n.684G>T
ENST00000682935.1:n.2598G>T
ENST00000682984.1:c.699G>T	ENSP00000507209.1:p.Trp233Cys
ENST00000683078.1:c.793G>T	ENSP00000506796.1:n.793G>T
ENST00000683223.1:c.770G>T	ENSP00000507685.1:n.770G>T
ENST00000683238.1:n.2419G>T
ENST00000683249.1:n.2635G>T
ENST00000683336.1:c.859G>T	ENSP00000507695.1:n.859G>T
ENST00000683362.1:c.699G>T	ENSP00000506985.1:p.Trp233Cys
ENST00000683850.1:n.961G>T
ENST00000683919.1:c.968G>T	ENSP00000507617.1:n.968G>T
ENST00000683953.1:c.949G>T	ENSP00000508375.1:n.949G>T
ENST00000684023.1:c.1172G>T	ENSP00000507461.1:n.1172G>T
ENST00000684064.1:c.729G>T	ENSP00000508192.1:p.Trp243Cys
ENST00000684089.1:n.2588G>T
ENST00000684149.1:c.*374G>T	ENSP00000507943.1:n.*374G>T
ENST00000684416.1:n.997G>T
ENST00000684540.1:c.968G>T	ENSP00000507987.1:n.968G>T
XM_006716686.2:c.735G>T	XP_006716749.1:p.Trp245Cys
XM_006716686.4:c.735G>T	XP_006716749.1:p.Trp245Cys
XM_006716687.2:c.438G>T	XP_006716750.1:p.Trp146Cys
XM_011517363.1:c.407-4506G>T	XP_011515665.1:n.407-4506G>T
XM_011517363.3:c.407-4506G>T	XP_011515665.1:n.407-4506G>T
XM_024447326.1:c.384G>T	XP_024303094.1:p.Trp128Cys
XR_001745619.2:n.1079G>T
XR_428387.1:n.1096G>T
XR_428387.2:n.1079G>T
XR_928360.1:n.1096G>T
XR_928360.3:n.1079G>T
XR_928361.1:n.1096G>T
XR_928362.1:n.1096G>T
XR_928362.3:n.1079G>T