Canonical Allele Identifier: CA371699145

Gene: TMEM67

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2552T>A	ENSP00000314488.4:p.Ile851Lys
ENST00000409623.8:c.2507T>A	ENSP00000386966.4:p.Ile836Lys
ENST00000452276.6:c.2435T>A	ENSP00000388671.2:p.Ile812Lys
ENST00000453906.6:c.1670T>A	ENSP00000403035.2:p.Ile557Lys
ENST00000518896.2:c.843T>A	ENSP00000507992.1:n.843T>A
ENST00000520680.2:c.2675T>A	ENSP00000428785.2:p.Ile892Lys
ENST00000521517.6:c.2453T>A	ENSP00000430740.2:p.Ile818Lys
ENST00000681998.1:c.2373T>A	ENSP00000506773.1:n.2373T>A
ENST00000682036.1:c.1793T>A	ENSP00000508390.1:p.Ile598Lys
ENST00000682577.1:c.2325T>A	ENSP00000506963.1:n.2325T>A
ENST00000682624.1:c.*2126T>A	ENSP00000508343.1:n.*2126T>A
ENST00000682700.1:c.2552T>A	ENSP00000507627.1:p.Ile851Lys
ENST00000682744.1:n.2090T>A
ENST00000682804.1:n.2375T>A
ENST00000682837.1:c.2041T>A	ENSP00000507920.1:n.2041T>A
ENST00000682935.1:n.4602T>A
ENST00000682984.1:c.2213T>A	ENSP00000507209.1:p.Ile738Lys
ENST00000683078.1:c.2307T>A	ENSP00000506796.1:n.2307T>A
ENST00000683223.1:c.2284T>A	ENSP00000507685.1:n.2284T>A
ENST00000683238.1:n.3776T>A
ENST00000683249.1:n.4149T>A
ENST00000683336.1:c.2373T>A	ENSP00000507695.1:n.2373T>A
ENST00000683362.1:c.2213T>A	ENSP00000506985.1:p.Ile738Lys
ENST00000683850.1:n.2475T>A
ENST00000683919.1:c.2482T>A	ENSP00000507617.1:n.2482T>A
ENST00000683953.1:c.2463T>A	ENSP00000508375.1:n.2463T>A
ENST00000684023.1:c.2529T>A	ENSP00000507461.1:n.2529T>A
ENST00000684064.1:c.2243T>A	ENSP00000508192.1:p.Ile748Lys
ENST00000684089.1:n.4102T>A
ENST00000684149.1:c.*1731T>A	ENSP00000507943.1:n.*1731T>A
ENST00000684343.1:c.749T>A	ENSP00000507591.1:p.Ile250Lys
ENST00000684416.1:n.2511T>A
ENST00000684540.1:c.2482T>A	ENSP00000507987.1:n.2482T>A
ENST00000453321.8:c.2552T>A MANE Select	ENSP00000389998.3:p.Ile851Lys
ENST00000323130.7:c.2522T>A	ENSP00000314488.3:p.Ile841Lys
ENST00000409623.7:c.2309T>A	ENSP00000386966.3:p.Ile770Lys
ENST00000453321.7:c.2552T>A	ENSP00000389998.3:p.Ile851Lys
ENST00000474944.5:n.1690T>A
ENST00000519845.5:n.1284T>A
NM_001142301.1:c.2309T>A , LRG_688t2:c.2309T>A	NP_001135773.1:p.Ile770Lys
NM_153704.5:c.2552T>A , LRG_688t1:c.2552T>A	NP_714915.3:p.Ile851Lys
NR_024522.1:n.2623T>A
XM_006716686.2:c.2249T>A	XP_006716749.1:p.Ile750Lys
XM_006716687.2:c.1952T>A	XP_006716750.1:p.Ile651Lys
XM_011517363.1:c.1670T>A	XP_011515665.1:p.Ile557Lys
XR_428387.1:n.2610T>A
XR_928360.1:n.2610T>A
XR_928361.1:n.2610T>A
XR_928362.1:n.2610T>A
XM_006716686.4:c.2249T>A	XP_006716749.1:p.Ile750Lys
XM_011517363.3:c.1670T>A	XP_011515665.1:p.Ile557Lys
XM_024447326.1:c.1898T>A	XP_024303094.1:p.Ile633Lys
XR_001745619.2:n.2593T>A
XR_428387.2:n.2593T>A
XR_928360.3:n.2593T>A
XR_928362.3:n.2593T>A
NM_153704.6:c.2552T>A MANE Select	NP_714915.3:p.Ile851Lys
NR_024522.2:n.2573T>A