Canonical Allele Identifier: CA461867405

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821091T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808863T>G , CM000670.2:g.93808863T>G	GRCh38
NC_000008.10:g.94821091T>G , CM000670.1:g.94821091T>G	GRCh37
NC_000008.9:g.94890267T>G	NCBI36
NG_009190.1:g.59020T>G , LRG_688:g.59020T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2463T>G	ENSP00000314488.4:p.Gly821=
ENST00000409623.8:c.2418T>G	ENSP00000386966.4:p.Gly806=
ENST00000452276.6:c.2346T>G	ENSP00000388671.2:p.Gly782=
ENST00000453906.6:c.1581T>G	ENSP00000403035.2:p.Gly527=
ENST00000518896.2:c.754T>G	ENSP00000507992.1:n.754T>G
ENST00000520680.2:c.2586T>G	ENSP00000428785.2:p.Gly862=
ENST00000521517.6:c.2364T>G	ENSP00000430740.2:p.Gly788=
ENST00000681998.1:c.2284T>G	ENSP00000506773.1:n.2284T>G
ENST00000682036.1:c.1704T>G	ENSP00000508390.1:p.Gly568=
ENST00000682577.1:c.2236T>G	ENSP00000506963.1:n.2236T>G
ENST00000682624.1:c.*2037T>G	ENSP00000508343.1:n.*2037T>G
ENST00000682700.1:c.2463T>G	ENSP00000507627.1:p.Gly821=
ENST00000682744.1:n.2001T>G
ENST00000682804.1:n.2286T>G
ENST00000682837.1:c.1952T>G	ENSP00000507920.1:n.1952T>G
ENST00000682935.1:n.4513T>G
ENST00000682984.1:c.2124T>G	ENSP00000507209.1:p.Gly708=
ENST00000683078.1:c.2218T>G	ENSP00000506796.1:n.2218T>G
ENST00000683223.1:c.2195T>G	ENSP00000507685.1:n.2195T>G
ENST00000683238.1:n.3687T>G
ENST00000683249.1:n.4060T>G
ENST00000683336.1:c.2284T>G	ENSP00000507695.1:n.2284T>G
ENST00000683362.1:c.2124T>G	ENSP00000506985.1:p.Gly708=
ENST00000683850.1:n.2386T>G
ENST00000683919.1:c.2393T>G	ENSP00000507617.1:n.2393T>G
ENST00000683953.1:c.2374T>G	ENSP00000508375.1:n.2374T>G
ENST00000684023.1:c.2440T>G	ENSP00000507461.1:n.2440T>G
ENST00000684064.1:c.2154T>G	ENSP00000508192.1:p.Gly718=
ENST00000684089.1:n.4013T>G
ENST00000684149.1:c.*1642T>G	ENSP00000507943.1:n.*1642T>G
ENST00000684343.1:c.660T>G	ENSP00000507591.1:p.Gly220=
ENST00000684416.1:n.2422T>G
ENST00000684540.1:c.2393T>G	ENSP00000507987.1:n.2393T>G
ENST00000453321.8:c.2463T>G MANE Select	ENSP00000389998.3:p.Gly821=
ENST00000323130.7:c.2433T>G	ENSP00000314488.3:p.Gly811=
ENST00000409623.7:c.2220T>G	ENSP00000386966.3:p.Gly740=
ENST00000453321.7:c.2463T>G	ENSP00000389998.3:p.Gly821=
ENST00000474944.5:n.1601T>G
ENST00000519845.5:n.1195T>G
NM_001142301.1:c.2220T>G , LRG_688t2:c.2220T>G	NP_001135773.1:p.Gly740=
NM_153704.5:c.2463T>G , LRG_688t1:c.2463T>G	NP_714915.3:p.Gly821=
NR_024522.1:n.2534T>G
XM_006716686.2:c.2160T>G	XP_006716749.1:p.Gly720=
XM_006716687.2:c.1863T>G	XP_006716750.1:p.Gly621=
XM_011517363.1:c.1581T>G	XP_011515665.1:p.Gly527=
XR_428387.1:n.2521T>G
XR_928360.1:n.2521T>G
XR_928361.1:n.2521T>G
XR_928362.1:n.2521T>G
XM_006716686.4:c.2160T>G	XP_006716749.1:p.Gly720=
XM_011517363.3:c.1581T>G	XP_011515665.1:p.Gly527=
XM_024447326.1:c.1809T>G	XP_024303094.1:p.Gly603=
XR_001745619.2:n.2504T>G
XR_428387.2:n.2504T>G
XR_928360.3:n.2504T>G
XR_928362.3:n.2504T>G
NM_153704.6:c.2463T>G MANE Select	NP_714915.3:p.Gly821=
NR_024522.2:n.2484T>G