Canonical Allele Identifier: CA371687736

Gene: TMEM67

Linked Data

• COSMIC: COSM6181756 ; COSM6181757 ; COSM6181758
• MyVariant Identifiers: chr8:g.94792843G>T (hg19) ; chr8:g.93780615G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780615G>T , CM000670.2:g.93780615G>T	GRCh38
NC_000008.10:g.94792843G>T , CM000670.1:g.94792843G>T	GRCh37
NC_000008.9:g.94862019G>T	NCBI36
NG_009190.1:g.30772G>T , LRG_688:g.30772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.737G>T	ENSP00000314488.4:p.Cys246Phe
ENST00000409623.8:c.737G>T	ENSP00000386966.4:p.Cys246Phe
ENST00000452276.6:c.737G>T	ENSP00000388671.2:p.Cys246Phe
ENST00000453906.6:c.407-5608G>T	ENSP00000403035.2:n.407-5608G>T
ENST00000520680.2:c.737G>T	ENSP00000428785.2:p.Cys246Phe
ENST00000521065.2:c.*454G>T	ENSP00000427947.2:n.*454G>T
ENST00000521517.6:c.737G>T	ENSP00000430740.2:p.Cys246Phe
ENST00000681998.1:c.667G>T	ENSP00000506773.1:n.667G>T
ENST00000682036.1:c.407-5608G>T	ENSP00000508390.1:n.407-5608G>T
ENST00000682577.1:c.667G>T	ENSP00000506963.1:n.667G>T
ENST00000682624.1:c.*311G>T	ENSP00000508343.1:n.*311G>T
ENST00000682700.1:c.737G>T	ENSP00000507627.1:p.Cys246Phe
ENST00000682744.1:n.275G>T
ENST00000682804.1:n.560G>T
ENST00000682837.1:c.492G>T	ENSP00000507920.1:p.Leu164Phe
ENST00000682935.1:n.2297G>T
ENST00000682984.1:c.398G>T	ENSP00000507209.1:p.Cys133Phe
ENST00000683078.1:c.492G>T	ENSP00000506796.1:p.Leu164Phe
ENST00000683223.1:c.578G>T	ENSP00000507685.1:n.578G>T
ENST00000683238.1:n.2118G>T
ENST00000683249.1:n.2318G>T
ENST00000683336.1:c.667G>T	ENSP00000507695.1:n.667G>T
ENST00000683362.1:c.398G>T	ENSP00000506985.1:p.Cys133Phe
ENST00000683850.1:n.660G>T
ENST00000683919.1:c.667G>T	ENSP00000507617.1:n.667G>T
ENST00000683953.1:c.648G>T	ENSP00000508375.1:n.648G>T
ENST00000684023.1:c.871G>T	ENSP00000507461.1:n.871G>T
ENST00000684064.1:c.428G>T	ENSP00000508192.1:p.Cys143Phe
ENST00000684089.1:n.2287G>T
ENST00000684149.1:c.*73G>T	ENSP00000507943.1:n.*73G>T
ENST00000684416.1:n.696G>T
ENST00000684540.1:c.667G>T	ENSP00000507987.1:n.667G>T
ENST00000453321.8:c.737G>T MANE Select	ENSP00000389998.3:p.Cys246Phe
ENST00000323130.7:c.707G>T	ENSP00000314488.3:p.Cys236Phe
ENST00000409623.7:c.494G>T	ENSP00000386966.3:p.Cys165Phe
ENST00000425545.2:n.184G>T
ENST00000452276.5:c.428G>T	ENSP00000388671.1:p.Cys143Phe
ENST00000453321.7:c.737G>T	ENSP00000389998.3:p.Cys246Phe
ENST00000453906.5:c.407-5608G>T	ENSP00000403035.1:n.407-5608G>T
ENST00000474944.5:n.427-5608G>T
ENST00000496213.5:n.202G>T
NM_001142301.1:c.494G>T , LRG_688t2:c.494G>T	NP_001135773.1:p.Cys165Phe
NM_153704.5:c.737G>T , LRG_688t1:c.737G>T	NP_714915.3:p.Cys246Phe
NR_024522.1:n.808G>T
XM_006716686.2:c.434G>T	XP_006716749.1:p.Cys145Phe
XM_006716687.2:c.137G>T	XP_006716750.1:p.Cys46Phe
XM_011517363.1:c.407-5608G>T	XP_011515665.1:n.407-5608G>T
XR_428387.1:n.795G>T
XR_928360.1:n.795G>T
XR_928361.1:n.795G>T
XR_928362.1:n.795G>T
XM_006716686.4:c.434G>T	XP_006716749.1:p.Cys145Phe
XM_011517363.3:c.407-5608G>T	XP_011515665.1:n.407-5608G>T
XM_024447326.1:c.83G>T	XP_024303094.1:p.Cys28Phe
XR_001745619.2:n.778G>T
XR_428387.2:n.778G>T
XR_928360.3:n.778G>T
XR_928362.3:n.778G>T
NM_153704.6:c.737G>T MANE Select	NP_714915.3:p.Cys246Phe
NR_024522.2:n.758G>T