Canonical Allele Identifier: CA371698885

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821081G>C (hg19) ; chr8:g.93808853G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808853G>C , CM000670.2:g.93808853G>C	GRCh38
NC_000008.10:g.94821081G>C , CM000670.1:g.94821081G>C	GRCh37
NC_000008.9:g.94890257G>C	NCBI36
NG_009190.1:g.59010G>C , LRG_688:g.59010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2453G>C	ENSP00000314488.4:p.Ser818Thr
ENST00000409623.8:c.2408G>C	ENSP00000386966.4:p.Ser803Thr
ENST00000452276.6:c.2336G>C	ENSP00000388671.2:p.Ser779Thr
ENST00000453906.6:c.1571G>C	ENSP00000403035.2:p.Ser524Thr
ENST00000518896.2:c.744G>C	ENSP00000507992.1:n.744G>C
ENST00000520680.2:c.2576G>C	ENSP00000428785.2:p.Ser859Thr
ENST00000521517.6:c.2354G>C	ENSP00000430740.2:p.Ser785Thr
ENST00000681998.1:c.2274G>C	ENSP00000506773.1:n.2274G>C
ENST00000682036.1:c.1694G>C	ENSP00000508390.1:p.Ser565Thr
ENST00000682577.1:c.2226G>C	ENSP00000506963.1:n.2226G>C
ENST00000682624.1:c.*2027G>C	ENSP00000508343.1:n.*2027G>C
ENST00000682700.1:c.2453G>C	ENSP00000507627.1:p.Ser818Thr
ENST00000682744.1:n.1991G>C
ENST00000682804.1:n.2276G>C
ENST00000682837.1:c.1942G>C	ENSP00000507920.1:n.1942G>C
ENST00000682935.1:n.4503G>C
ENST00000682984.1:c.2114G>C	ENSP00000507209.1:p.Ser705Thr
ENST00000683078.1:c.2208G>C	ENSP00000506796.1:n.2208G>C
ENST00000683223.1:c.2185G>C	ENSP00000507685.1:n.2185G>C
ENST00000683238.1:n.3677G>C
ENST00000683249.1:n.4050G>C
ENST00000683336.1:c.2274G>C	ENSP00000507695.1:n.2274G>C
ENST00000683362.1:c.2114G>C	ENSP00000506985.1:p.Ser705Thr
ENST00000683850.1:n.2376G>C
ENST00000683919.1:c.2383G>C	ENSP00000507617.1:n.2383G>C
ENST00000683953.1:c.2364G>C	ENSP00000508375.1:n.2364G>C
ENST00000684023.1:c.2430G>C	ENSP00000507461.1:n.2430G>C
ENST00000684064.1:c.2144G>C	ENSP00000508192.1:p.Ser715Thr
ENST00000684089.1:n.4003G>C
ENST00000684149.1:c.*1632G>C	ENSP00000507943.1:n.*1632G>C
ENST00000684343.1:c.650G>C	ENSP00000507591.1:p.Ser217Thr
ENST00000684416.1:n.2412G>C
ENST00000684540.1:c.2383G>C	ENSP00000507987.1:n.2383G>C
ENST00000453321.8:c.2453G>C MANE Select	ENSP00000389998.3:p.Ser818Thr
ENST00000323130.7:c.2423G>C	ENSP00000314488.3:p.Ser808Thr
ENST00000409623.7:c.2210G>C	ENSP00000386966.3:p.Ser737Thr
ENST00000453321.7:c.2453G>C	ENSP00000389998.3:p.Ser818Thr
ENST00000474944.5:n.1591G>C
ENST00000519845.5:n.1185G>C
NM_001142301.1:c.2210G>C , LRG_688t2:c.2210G>C	NP_001135773.1:p.Ser737Thr
NM_153704.5:c.2453G>C , LRG_688t1:c.2453G>C	NP_714915.3:p.Ser818Thr
NR_024522.1:n.2524G>C
XM_006716686.2:c.2150G>C	XP_006716749.1:p.Ser717Thr
XM_006716687.2:c.1853G>C	XP_006716750.1:p.Ser618Thr
XM_011517363.1:c.1571G>C	XP_011515665.1:p.Ser524Thr
XR_428387.1:n.2511G>C
XR_928360.1:n.2511G>C
XR_928361.1:n.2511G>C
XR_928362.1:n.2511G>C
XM_006716686.4:c.2150G>C	XP_006716749.1:p.Ser717Thr
XM_011517363.3:c.1571G>C	XP_011515665.1:p.Ser524Thr
XM_024447326.1:c.1799G>C	XP_024303094.1:p.Ser600Thr
XR_001745619.2:n.2494G>C
XR_428387.2:n.2494G>C
XR_928360.3:n.2494G>C
XR_928362.3:n.2494G>C
NM_153704.6:c.2453G>C MANE Select	NP_714915.3:p.Ser818Thr
NR_024522.2:n.2474G>C