Canonical Allele Identifier: CA371699150

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821183G>T (hg19) ; chr8:g.93808955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808955G>T , CM000670.2:g.93808955G>T	GRCh38
NC_000008.10:g.94821183G>T , CM000670.1:g.94821183G>T	GRCh37
NC_000008.9:g.94890359G>T	NCBI36
NG_009190.1:g.59112G>T , LRG_688:g.59112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2555G>T	ENSP00000314488.4:p.Arg852Met
ENST00000409623.8:c.2510G>T	ENSP00000386966.4:p.Arg837Met
ENST00000452276.6:c.2438G>T	ENSP00000388671.2:p.Arg813Met
ENST00000453906.6:c.1673G>T	ENSP00000403035.2:p.Arg558Met
ENST00000518896.2:c.846G>T	ENSP00000507992.1:n.846G>T
ENST00000520680.2:c.2678G>T	ENSP00000428785.2:p.Arg893Met
ENST00000521517.6:c.2456G>T	ENSP00000430740.2:p.Arg819Met
ENST00000681998.1:c.2376G>T	ENSP00000506773.1:n.2376G>T
ENST00000682036.1:c.1796G>T	ENSP00000508390.1:p.Arg599Met
ENST00000682577.1:c.2328G>T	ENSP00000506963.1:n.2328G>T
ENST00000682624.1:c.*2129G>T	ENSP00000508343.1:n.*2129G>T
ENST00000682700.1:c.2555G>T	ENSP00000507627.1:p.Arg852Met
ENST00000682744.1:n.2093G>T
ENST00000682804.1:n.2378G>T
ENST00000682837.1:c.2044G>T	ENSP00000507920.1:n.2044G>T
ENST00000682935.1:n.4605G>T
ENST00000682984.1:c.2216G>T	ENSP00000507209.1:p.Arg739Met
ENST00000683078.1:c.2310G>T	ENSP00000506796.1:n.2310G>T
ENST00000683223.1:c.2287G>T	ENSP00000507685.1:n.2287G>T
ENST00000683238.1:n.3779G>T
ENST00000683249.1:n.4152G>T
ENST00000683336.1:c.2376G>T	ENSP00000507695.1:n.2376G>T
ENST00000683362.1:c.2216G>T	ENSP00000506985.1:p.Arg739Met
ENST00000683850.1:n.2478G>T
ENST00000683919.1:c.2485G>T	ENSP00000507617.1:n.2485G>T
ENST00000683953.1:c.2466G>T	ENSP00000508375.1:n.2466G>T
ENST00000684023.1:c.2532G>T	ENSP00000507461.1:n.2532G>T
ENST00000684064.1:c.2246G>T	ENSP00000508192.1:p.Arg749Met
ENST00000684089.1:n.4105G>T
ENST00000684149.1:c.*1734G>T	ENSP00000507943.1:n.*1734G>T
ENST00000684343.1:c.752G>T	ENSP00000507591.1:p.Arg251Met
ENST00000684416.1:n.2514G>T
ENST00000684540.1:c.2485G>T	ENSP00000507987.1:n.2485G>T
ENST00000453321.8:c.2555G>T MANE Select	ENSP00000389998.3:p.Arg852Met
ENST00000323130.7:c.2525G>T	ENSP00000314488.3:p.Arg842Met
ENST00000409623.7:c.2312G>T	ENSP00000386966.3:p.Arg771Met
ENST00000453321.7:c.2555G>T	ENSP00000389998.3:p.Arg852Met
ENST00000474944.5:n.1693G>T
ENST00000519845.5:n.1287G>T
NM_001142301.1:c.2312G>T , LRG_688t2:c.2312G>T	NP_001135773.1:p.Arg771Met
NM_153704.5:c.2555G>T , LRG_688t1:c.2555G>T	NP_714915.3:p.Arg852Met
NR_024522.1:n.2626G>T
XM_006716686.2:c.2252G>T	XP_006716749.1:p.Arg751Met
XM_006716687.2:c.1955G>T	XP_006716750.1:p.Arg652Met
XM_011517363.1:c.1673G>T	XP_011515665.1:p.Arg558Met
XR_428387.1:n.2613G>T
XR_928360.1:n.2613G>T
XR_928361.1:n.2613G>T
XR_928362.1:n.2613G>T
XM_006716686.4:c.2252G>T	XP_006716749.1:p.Arg751Met
XM_011517363.3:c.1673G>T	XP_011515665.1:p.Arg558Met
XM_024447326.1:c.1901G>T	XP_024303094.1:p.Arg634Met
XR_001745619.2:n.2596G>T
XR_428387.2:n.2596G>T
XR_928360.3:n.2596G>T
XR_928362.3:n.2596G>T
NM_153704.6:c.2555G>T MANE Select	NP_714915.3:p.Arg852Met
NR_024522.2:n.2576G>T