Canonical Allele Identifier: CA371699147

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821180T>G (hg19) ; chr8:g.93808952T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808952T>G , CM000670.2:g.93808952T>G	GRCh38
NC_000008.10:g.94821180T>G , CM000670.1:g.94821180T>G	GRCh37
NC_000008.9:g.94890356T>G	NCBI36
NG_009190.1:g.59109T>G , LRG_688:g.59109T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2552T>G	ENSP00000314488.4:p.Ile851Arg
ENST00000409623.8:c.2507T>G	ENSP00000386966.4:p.Ile836Arg
ENST00000452276.6:c.2435T>G	ENSP00000388671.2:p.Ile812Arg
ENST00000453906.6:c.1670T>G	ENSP00000403035.2:p.Ile557Arg
ENST00000518896.2:c.843T>G	ENSP00000507992.1:n.843T>G
ENST00000520680.2:c.2675T>G	ENSP00000428785.2:p.Ile892Arg
ENST00000521517.6:c.2453T>G	ENSP00000430740.2:p.Ile818Arg
ENST00000681998.1:c.2373T>G	ENSP00000506773.1:n.2373T>G
ENST00000682036.1:c.1793T>G	ENSP00000508390.1:p.Ile598Arg
ENST00000682577.1:c.2325T>G	ENSP00000506963.1:n.2325T>G
ENST00000682624.1:c.*2126T>G	ENSP00000508343.1:n.*2126T>G
ENST00000682700.1:c.2552T>G	ENSP00000507627.1:p.Ile851Arg
ENST00000682744.1:n.2090T>G
ENST00000682804.1:n.2375T>G
ENST00000682837.1:c.2041T>G	ENSP00000507920.1:n.2041T>G
ENST00000682935.1:n.4602T>G
ENST00000682984.1:c.2213T>G	ENSP00000507209.1:p.Ile738Arg
ENST00000683078.1:c.2307T>G	ENSP00000506796.1:n.2307T>G
ENST00000683223.1:c.2284T>G	ENSP00000507685.1:n.2284T>G
ENST00000683238.1:n.3776T>G
ENST00000683249.1:n.4149T>G
ENST00000683336.1:c.2373T>G	ENSP00000507695.1:n.2373T>G
ENST00000683362.1:c.2213T>G	ENSP00000506985.1:p.Ile738Arg
ENST00000683850.1:n.2475T>G
ENST00000683919.1:c.2482T>G	ENSP00000507617.1:n.2482T>G
ENST00000683953.1:c.2463T>G	ENSP00000508375.1:n.2463T>G
ENST00000684023.1:c.2529T>G	ENSP00000507461.1:n.2529T>G
ENST00000684064.1:c.2243T>G	ENSP00000508192.1:p.Ile748Arg
ENST00000684089.1:n.4102T>G
ENST00000684149.1:c.*1731T>G	ENSP00000507943.1:n.*1731T>G
ENST00000684343.1:c.749T>G	ENSP00000507591.1:p.Ile250Arg
ENST00000684416.1:n.2511T>G
ENST00000684540.1:c.2482T>G	ENSP00000507987.1:n.2482T>G
ENST00000453321.8:c.2552T>G MANE Select	ENSP00000389998.3:p.Ile851Arg
ENST00000323130.7:c.2522T>G	ENSP00000314488.3:p.Ile841Arg
ENST00000409623.7:c.2309T>G	ENSP00000386966.3:p.Ile770Arg
ENST00000453321.7:c.2552T>G	ENSP00000389998.3:p.Ile851Arg
ENST00000474944.5:n.1690T>G
ENST00000519845.5:n.1284T>G
NM_001142301.1:c.2309T>G , LRG_688t2:c.2309T>G	NP_001135773.1:p.Ile770Arg
NM_153704.5:c.2552T>G , LRG_688t1:c.2552T>G	NP_714915.3:p.Ile851Arg
NR_024522.1:n.2623T>G
XM_006716686.2:c.2249T>G	XP_006716749.1:p.Ile750Arg
XM_006716687.2:c.1952T>G	XP_006716750.1:p.Ile651Arg
XM_011517363.1:c.1670T>G	XP_011515665.1:p.Ile557Arg
XR_428387.1:n.2610T>G
XR_928360.1:n.2610T>G
XR_928361.1:n.2610T>G
XR_928362.1:n.2610T>G
XM_006716686.4:c.2249T>G	XP_006716749.1:p.Ile750Arg
XM_011517363.3:c.1670T>G	XP_011515665.1:p.Ile557Arg
XM_024447326.1:c.1898T>G	XP_024303094.1:p.Ile633Arg
XR_001745619.2:n.2593T>G
XR_428387.2:n.2593T>G
XR_928360.3:n.2593T>G
XR_928362.3:n.2593T>G
NM_153704.6:c.2552T>G MANE Select	NP_714915.3:p.Ile851Arg
NR_024522.2:n.2573T>G