Canonical Allele Identifier: CA371698840

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821070A>C (hg19) ; chr8:g.93808842A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808842A>C , CM000670.2:g.93808842A>C	GRCh38
NC_000008.10:g.94821070A>C , CM000670.1:g.94821070A>C	GRCh37
NC_000008.9:g.94890246A>C	NCBI36
NG_009190.1:g.58999A>C , LRG_688:g.58999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2442A>C	ENSP00000314488.4:p.Glu814Asp
ENST00000409623.8:c.2397A>C	ENSP00000386966.4:p.Glu799Asp
ENST00000452276.6:c.2325A>C	ENSP00000388671.2:p.Glu775Asp
ENST00000453906.6:c.1560A>C	ENSP00000403035.2:p.Glu520Asp
ENST00000518896.2:c.733A>C	ENSP00000507992.1:n.733A>C
ENST00000520680.2:c.2565A>C	ENSP00000428785.2:p.Glu855Asp
ENST00000521517.6:c.2343A>C	ENSP00000430740.2:p.Glu781Asp
ENST00000681998.1:c.2263A>C	ENSP00000506773.1:n.2263A>C
ENST00000682036.1:c.1683A>C	ENSP00000508390.1:p.Glu561Asp
ENST00000682577.1:c.2215A>C	ENSP00000506963.1:n.2215A>C
ENST00000682624.1:c.*2016A>C	ENSP00000508343.1:n.*2016A>C
ENST00000682700.1:c.2442A>C	ENSP00000507627.1:p.Glu814Asp
ENST00000682744.1:n.1980A>C
ENST00000682804.1:n.2265A>C
ENST00000682837.1:c.1931A>C	ENSP00000507920.1:n.1931A>C
ENST00000682935.1:n.4492A>C
ENST00000682984.1:c.2103A>C	ENSP00000507209.1:p.Glu701Asp
ENST00000683078.1:c.2197A>C	ENSP00000506796.1:n.2197A>C
ENST00000683223.1:c.2174A>C	ENSP00000507685.1:n.2174A>C
ENST00000683238.1:n.3666A>C
ENST00000683249.1:n.4039A>C
ENST00000683336.1:c.2263A>C	ENSP00000507695.1:n.2263A>C
ENST00000683362.1:c.2103A>C	ENSP00000506985.1:p.Glu701Asp
ENST00000683850.1:n.2365A>C
ENST00000683919.1:c.2372A>C	ENSP00000507617.1:n.2372A>C
ENST00000683953.1:c.2353A>C	ENSP00000508375.1:n.2353A>C
ENST00000684023.1:c.2419A>C	ENSP00000507461.1:n.2419A>C
ENST00000684064.1:c.2133A>C	ENSP00000508192.1:p.Glu711Asp
ENST00000684089.1:n.3992A>C
ENST00000684149.1:c.*1621A>C	ENSP00000507943.1:n.*1621A>C
ENST00000684343.1:c.639A>C	ENSP00000507591.1:p.Glu213Asp
ENST00000684416.1:n.2401A>C
ENST00000684540.1:c.2372A>C	ENSP00000507987.1:n.2372A>C
ENST00000453321.8:c.2442A>C MANE Select	ENSP00000389998.3:p.Glu814Asp
ENST00000323130.7:c.2412A>C	ENSP00000314488.3:p.Glu804Asp
ENST00000409623.7:c.2199A>C	ENSP00000386966.3:p.Glu733Asp
ENST00000453321.7:c.2442A>C	ENSP00000389998.3:p.Glu814Asp
ENST00000474944.5:n.1580A>C
ENST00000519845.5:n.1174A>C
NM_001142301.1:c.2199A>C , LRG_688t2:c.2199A>C	NP_001135773.1:p.Glu733Asp
NM_153704.5:c.2442A>C , LRG_688t1:c.2442A>C	NP_714915.3:p.Glu814Asp
NR_024522.1:n.2513A>C
XM_006716686.2:c.2139A>C	XP_006716749.1:p.Glu713Asp
XM_006716687.2:c.1842A>C	XP_006716750.1:p.Glu614Asp
XM_011517363.1:c.1560A>C	XP_011515665.1:p.Glu520Asp
XR_428387.1:n.2500A>C
XR_928360.1:n.2500A>C
XR_928361.1:n.2500A>C
XR_928362.1:n.2500A>C
XM_006716686.4:c.2139A>C	XP_006716749.1:p.Glu713Asp
XM_011517363.3:c.1560A>C	XP_011515665.1:p.Glu520Asp
XM_024447326.1:c.1788A>C	XP_024303094.1:p.Glu596Asp
XR_001745619.2:n.2483A>C
XR_428387.2:n.2483A>C
XR_928360.3:n.2483A>C
XR_928362.3:n.2483A>C
NM_153704.6:c.2442A>C MANE Select	NP_714915.3:p.Glu814Asp
NR_024522.2:n.2463A>C