Canonical Allele Identifier: CA1803211987

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758521C= , CM000670.2:g.93758521C=	GRCh38
NC_000008.10:g.94770749C= , CM000670.1:g.94770749C=	GRCh37
NC_000008.9:g.94839925C=	NCBI36
NG_009190.1:g.8678C= , LRG_688:g.8678C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.351C=	ENSP00000314488.4:p.Cys117=
ENST00000409623.8:c.351C=	ENSP00000386966.4:p.Cys117=
ENST00000452276.6:c.351C=	ENSP00000388671.2:p.Cys117=
ENST00000453906.6:c.351C=	ENSP00000403035.2:p.Cys117=
ENST00000520680.2:c.351C=	ENSP00000428785.2:p.Cys117=
ENST00000521065.2:c.351C=	ENSP00000427947.2:p.Cys117=
ENST00000521517.6:c.351C=	ENSP00000430740.2:p.Cys117=
ENST00000681998.1:c.351C=	ENSP00000506773.1:p.Cys117=
ENST00000682036.1:c.351C=	ENSP00000508390.1:p.Cys117=
ENST00000682577.1:c.351C=	ENSP00000506963.1:p.Cys117=
ENST00000682624.1:c.262C=	ENSP00000508343.1:p.Pro88=
ENST00000682700.1:c.351C=	ENSP00000507627.1:p.Cys117=
ENST00000682804.1:n.244C=
ENST00000682837.1:c.351C=	ENSP00000507920.1:p.Cys117=
ENST00000682935.1:n.351C=
ENST00000682984.1:c.312+2655C=	ENSP00000507209.1:n.312+2655C=
ENST00000683078.1:c.351C=	ENSP00000506796.1:p.Cys117=
ENST00000683223.1:c.262C=	ENSP00000507685.1:p.Pro88=
ENST00000683238.1:n.172C=
ENST00000683249.1:n.372C=
ENST00000683336.1:c.351C=	ENSP00000507695.1:p.Cys117=
ENST00000683362.1:c.312+2655C=	ENSP00000506985.1:n.312+2655C=
ENST00000683850.1:n.274C=
ENST00000683919.1:c.351C=	ENSP00000507617.1:p.Cys117=
ENST00000683953.1:c.262C=	ENSP00000508375.1:p.Pro88=
ENST00000684023.1:c.351C=	ENSP00000507461.1:p.Cys117=
ENST00000684064.1:c.42C=	ENSP00000508192.1:p.Cys14=
ENST00000684089.1:n.341C=
ENST00000684149.1:c.351C=	ENSP00000507943.1:p.Cys117=
ENST00000684416.1:n.176C=
ENST00000684540.1:c.351C=	ENSP00000507987.1:p.Cys117=
ENST00000684733.1:n.286C=
ENST00000453321.8:c.351C= MANE Select	ENSP00000389998.3:p.Cys117=
ENST00000323130.7:c.321C=	ENSP00000314488.3:p.Cys107=
ENST00000409623.7:c.-27C=	ENSP00000386966.3:n.-27C=
ENST00000452276.5:c.42C=	ENSP00000388671.1:p.Cys14=
ENST00000453321.7:c.351C=	ENSP00000389998.3:p.Cys117=
ENST00000453906.5:c.351C=	ENSP00000403035.1:p.Cys117=
ENST00000455946.5:c.351C=	ENSP00000416339.1:p.Cys117=
ENST00000474944.5:n.371C=
ENST00000475305.1:n.360C=
ENST00000498673.5:c.-130C=	ENSP00000430232.1:n.-130C=
ENST00000518319.5:c.-169C=	ENSP00000430289.1:n.-169C=
ENST00000521065.1:c.257C=
ENST00000521222.5:c.347C=	ENSP00000429925.1:p.Ala116=
ENST00000521517.5:c.343C=
NM_001142301.1:c.-27C= , LRG_688t2:c.-27C=	NP_001135773.1:n.-27C=
NM_153704.5:c.351C= , LRG_688t1:c.351C=	NP_714915.3:p.Cys117=
NR_024522.1:n.422C=
XM_006716686.2:c.48C=	XP_006716749.1:p.Cys16=
XM_011517363.1:c.351C=	XP_011515665.1:p.Cys117=
XR_428387.1:n.409C=
XR_928360.1:n.409C=
XR_928361.1:n.409C=
XR_928362.1:n.409C=
XM_006716686.4:c.48C=	XP_006716749.1:p.Cys16=
XM_011517363.3:c.351C=	XP_011515665.1:p.Cys117=
XM_024447326.1:c.-59C=	XP_024303094.1:n.-59C=
XR_001745619.2:n.392C=
XR_428387.2:n.392C=
XR_928360.3:n.392C=
XR_928362.3:n.392C=
NM_153704.6:c.351C= MANE Select	NP_714915.3:p.Cys117=
NR_024522.2:n.372C=