Canonical Allele Identifier: CA371685284

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93755037C>G , CM000670.2:g.93755037C>G	GRCh38
NC_000008.10:g.94767265C>G , CM000670.1:g.94767265C>G	GRCh37
NC_000008.9:g.94836441C>G	NCBI36
NG_009190.1:g.5194C>G , LRG_688:g.5194C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.123C>G MANE Select	NP_714915.3:p.Phe41Leu
ENST00000453321.8:c.123C>G MANE Select	ENSP00000389998.3:p.Phe41Leu
NM_001142301.1:c.-162C>G , LRG_688t2:c.-162C>G	NP_001135773.1:n.-162C>G
NM_153704.5:c.123C>G , LRG_688t1:c.123C>G	NP_714915.3:p.Phe41Leu
NR_024522.1:n.194C>G
NR_024522.2:n.144C>G
ENST00000323130.7:c.93C>G	ENSP00000314488.3:p.Phe31Leu
ENST00000323130.8:c.123C>G	ENSP00000314488.4:p.Phe41Leu
ENST00000409623.7:c.-162C>G	ENSP00000386966.3:n.-162C>G
ENST00000409623.8:c.123C>G	ENSP00000386966.4:p.Phe41Leu
ENST00000452276.5:c.-187C>G	ENSP00000388671.1:n.-187C>G
ENST00000452276.6:c.123C>G	ENSP00000388671.2:p.Phe41Leu
ENST00000453321.7:c.123C>G	ENSP00000389998.3:p.Phe41Leu
ENST00000453906.5:c.123C>G	ENSP00000403035.1:p.Phe41Leu
ENST00000453906.6:c.123C>G	ENSP00000403035.2:p.Phe41Leu
ENST00000455946.5:c.123C>G	ENSP00000416339.1:p.Phe41Leu
ENST00000474944.5:n.143C>G
ENST00000475305.1:n.132C>G
ENST00000481620.1:n.126C>G
ENST00000498673.5:c.-400C>G	ENSP00000430232.1:n.-400C>G
ENST00000518319.5:c.-393C>G	ENSP00000430289.1:n.-393C>G
ENST00000520680.2:c.123C>G	ENSP00000428785.2:p.Phe41Leu
ENST00000521065.1:c.118C>G
ENST00000521065.2:c.123C>G	ENSP00000427947.2:p.Phe41Leu
ENST00000521222.5:c.123C>G	ENSP00000429925.1:p.Phe41Leu
ENST00000521517.5:c.115C>G
ENST00000521517.6:c.123C>G	ENSP00000430740.2:p.Phe41Leu
ENST00000681998.1:c.123C>G	ENSP00000506773.1:p.Phe41Leu
ENST00000682036.1:c.123C>G	ENSP00000508390.1:p.Phe41Leu
ENST00000682577.1:c.123C>G	ENSP00000506963.1:p.Phe41Leu
ENST00000682624.1:c.123C>G	ENSP00000508343.1:p.Phe41Leu
ENST00000682700.1:c.123C>G	ENSP00000507627.1:p.Phe41Leu
ENST00000682804.1:n.26-10C>G
ENST00000682837.1:c.123C>G	ENSP00000507920.1:p.Phe41Leu
ENST00000682935.1:n.123C>G
ENST00000682984.1:c.123C>G	ENSP00000507209.1:p.Phe41Leu
ENST00000683078.1:c.123C>G	ENSP00000506796.1:p.Phe41Leu
ENST00000683223.1:c.123C>G	ENSP00000507685.1:p.Phe41Leu
ENST00000683249.1:n.144C>G
ENST00000683336.1:c.123C>G	ENSP00000507695.1:p.Phe41Leu
ENST00000683362.1:c.123C>G	ENSP00000506985.1:p.Phe41Leu
ENST00000683850.1:n.46C>G
ENST00000683919.1:c.123C>G	ENSP00000507617.1:p.Phe41Leu
ENST00000683953.1:c.123C>G	ENSP00000508375.1:p.Phe41Leu
ENST00000684023.1:c.123C>G	ENSP00000507461.1:p.Phe41Leu
ENST00000684064.1:c.-187C>G	ENSP00000508192.1:n.-187C>G
ENST00000684089.1:n.113C>G
ENST00000684149.1:c.123C>G	ENSP00000507943.1:p.Phe41Leu
ENST00000684416.1:n.41C>G
ENST00000684540.1:c.123C>G	ENSP00000507987.1:p.Phe41Leu
ENST00000684733.1:n.147C>G
XM_006716686.2:c.-92C>G	XP_006716749.1:n.-92C>G
XM_006716686.4:c.-92C>G	XP_006716749.1:n.-92C>G
XM_011517363.1:c.123C>G	XP_011515665.1:p.Phe41Leu
XM_011517363.3:c.123C>G	XP_011515665.1:p.Phe41Leu
XM_024447326.1:c.-287C>G	XP_024303094.1:n.-287C>G
XR_001745619.2:n.164C>G
XR_428387.1:n.181C>G
XR_428387.2:n.164C>G
XR_928360.1:n.181C>G
XR_928360.3:n.164C>G
XR_928361.1:n.181C>G
XR_928362.1:n.181C>G
XR_928362.3:n.164C>G