Canonical Allele Identifier: CA4807776

Gene: TMEM67

Linked Data

• dbSNP Id: rs772332652
• ExAC: 8:94792933 A / G
• gnomAD v2: 8-94792933-A-G
• MyVariant Identifiers: chr8:g.94792933A>G (hg19) ; chr8:g.93780705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780705A>G , CM000670.2:g.93780705A>G	GRCh38
NC_000008.10:g.94792933A>G , CM000670.1:g.94792933A>G	GRCh37
NC_000008.9:g.94862109A>G	NCBI36
NG_009190.1:g.30862A>G , LRG_688:g.30862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.827A>G	ENSP00000314488.4:p.Glu276Gly
ENST00000409623.8:c.827A>G	ENSP00000386966.4:p.Glu276Gly
ENST00000452276.6:c.827A>G	ENSP00000388671.2:p.Glu276Gly
ENST00000453906.6:c.407-5518A>G	ENSP00000403035.2:n.407-5518A>G
ENST00000520680.2:c.827A>G	ENSP00000428785.2:p.Glu276Gly
ENST00000521065.2:c.*544A>G	ENSP00000427947.2:n.*544A>G
ENST00000521517.6:c.827A>G	ENSP00000430740.2:p.Glu276Gly
ENST00000681998.1:c.757A>G	ENSP00000506773.1:n.757A>G
ENST00000682036.1:c.407-5518A>G	ENSP00000508390.1:n.407-5518A>G
ENST00000682577.1:c.757A>G	ENSP00000506963.1:n.757A>G
ENST00000682624.1:c.*401A>G	ENSP00000508343.1:n.*401A>G
ENST00000682700.1:c.827A>G	ENSP00000507627.1:p.Glu276Gly
ENST00000682744.1:n.365A>G
ENST00000682804.1:n.650A>G
ENST00000682837.1:c.582A>G	ENSP00000507920.1:n.582A>G
ENST00000682935.1:n.2387A>G
ENST00000682984.1:c.488A>G	ENSP00000507209.1:p.Glu163Gly
ENST00000683078.1:c.582A>G	ENSP00000506796.1:n.582A>G
ENST00000683223.1:c.668A>G	ENSP00000507685.1:n.668A>G
ENST00000683238.1:n.2208A>G
ENST00000683249.1:n.2408A>G
ENST00000683336.1:c.757A>G	ENSP00000507695.1:n.757A>G
ENST00000683362.1:c.488A>G	ENSP00000506985.1:p.Glu163Gly
ENST00000683850.1:n.750A>G
ENST00000683919.1:c.757A>G	ENSP00000507617.1:n.757A>G
ENST00000683953.1:c.738A>G	ENSP00000508375.1:n.738A>G
ENST00000684023.1:c.961A>G	ENSP00000507461.1:n.961A>G
ENST00000684064.1:c.518A>G	ENSP00000508192.1:p.Glu173Gly
ENST00000684089.1:n.2377A>G
ENST00000684149.1:c.*163A>G	ENSP00000507943.1:n.*163A>G
ENST00000684416.1:n.786A>G
ENST00000684540.1:c.757A>G	ENSP00000507987.1:n.757A>G
ENST00000453321.8:c.827A>G MANE Select	ENSP00000389998.3:p.Glu276Gly
ENST00000323130.7:c.797A>G	ENSP00000314488.3:p.Glu266Gly
ENST00000409623.7:c.584A>G	ENSP00000386966.3:p.Glu195Gly
ENST00000425545.2:n.274A>G
ENST00000452276.5:c.518A>G	ENSP00000388671.1:p.Glu173Gly
ENST00000453321.7:c.827A>G	ENSP00000389998.3:p.Glu276Gly
ENST00000453906.5:c.407-5518A>G	ENSP00000403035.1:n.407-5518A>G
ENST00000474944.5:n.427-5518A>G
ENST00000496213.5:n.292A>G
NM_001142301.1:c.584A>G , LRG_688t2:c.584A>G	NP_001135773.1:p.Glu195Gly
NM_153704.5:c.827A>G , LRG_688t1:c.827A>G	NP_714915.3:p.Glu276Gly
NR_024522.1:n.898A>G
XM_006716686.2:c.524A>G	XP_006716749.1:p.Glu175Gly
XM_006716687.2:c.227A>G	XP_006716750.1:p.Glu76Gly
XM_011517363.1:c.407-5518A>G	XP_011515665.1:n.407-5518A>G
XR_428387.1:n.885A>G
XR_928360.1:n.885A>G
XR_928361.1:n.885A>G
XR_928362.1:n.885A>G
XM_006716686.4:c.524A>G	XP_006716749.1:p.Glu175Gly
XM_011517363.3:c.407-5518A>G	XP_011515665.1:n.407-5518A>G
XM_024447326.1:c.173A>G	XP_024303094.1:p.Glu58Gly
XR_001745619.2:n.868A>G
XR_428387.2:n.868A>G
XR_928360.3:n.868A>G
XR_928362.3:n.868A>G
NM_153704.6:c.827A>G MANE Select	NP_714915.3:p.Glu276Gly
NR_024522.2:n.848A>G