Canonical Allele Identifier: CA371688090

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792965A>C (hg19) ; chr8:g.93780737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780737A>C , CM000670.2:g.93780737A>C	GRCh38
NC_000008.10:g.94792965A>C , CM000670.1:g.94792965A>C	GRCh37
NC_000008.9:g.94862141A>C	NCBI36
NG_009190.1:g.30894A>C , LRG_688:g.30894A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.859A>C	ENSP00000314488.4:p.Ile287Leu
ENST00000409623.8:c.859A>C	ENSP00000386966.4:p.Ile287Leu
ENST00000452276.6:c.859A>C	ENSP00000388671.2:p.Ile287Leu
ENST00000453906.6:c.407-5486A>C	ENSP00000403035.2:n.407-5486A>C
ENST00000520680.2:c.859A>C	ENSP00000428785.2:p.Ile287Leu
ENST00000521065.2:c.*576A>C	ENSP00000427947.2:n.*576A>C
ENST00000521517.6:c.859A>C	ENSP00000430740.2:p.Ile287Leu
ENST00000681998.1:c.789A>C	ENSP00000506773.1:n.789A>C
ENST00000682036.1:c.407-5486A>C	ENSP00000508390.1:n.407-5486A>C
ENST00000682577.1:c.789A>C	ENSP00000506963.1:n.789A>C
ENST00000682624.1:c.*433A>C	ENSP00000508343.1:n.*433A>C
ENST00000682700.1:c.859A>C	ENSP00000507627.1:p.Ile287Leu
ENST00000682744.1:n.397A>C
ENST00000682804.1:n.682A>C
ENST00000682837.1:c.614A>C	ENSP00000507920.1:n.614A>C
ENST00000682935.1:n.2419A>C
ENST00000682984.1:c.520A>C	ENSP00000507209.1:p.Ile174Leu
ENST00000683078.1:c.614A>C	ENSP00000506796.1:n.614A>C
ENST00000683223.1:c.700A>C	ENSP00000507685.1:n.700A>C
ENST00000683238.1:n.2240A>C
ENST00000683249.1:n.2440A>C
ENST00000683336.1:c.789A>C	ENSP00000507695.1:n.789A>C
ENST00000683362.1:c.520A>C	ENSP00000506985.1:p.Ile174Leu
ENST00000683850.1:n.782A>C
ENST00000683919.1:c.789A>C	ENSP00000507617.1:n.789A>C
ENST00000683953.1:c.770A>C	ENSP00000508375.1:n.770A>C
ENST00000684023.1:c.993A>C	ENSP00000507461.1:n.993A>C
ENST00000684064.1:c.550A>C	ENSP00000508192.1:p.Ile184Leu
ENST00000684089.1:n.2409A>C
ENST00000684149.1:c.*195A>C	ENSP00000507943.1:n.*195A>C
ENST00000684416.1:n.818A>C
ENST00000684540.1:c.789A>C	ENSP00000507987.1:n.789A>C
ENST00000453321.8:c.859A>C MANE Select	ENSP00000389998.3:p.Ile287Leu
ENST00000323130.7:c.829A>C	ENSP00000314488.3:p.Ile277Leu
ENST00000409623.7:c.616A>C	ENSP00000386966.3:p.Ile206Leu
ENST00000425545.2:n.306A>C
ENST00000452276.5:c.550A>C	ENSP00000388671.1:p.Ile184Leu
ENST00000453321.7:c.859A>C	ENSP00000389998.3:p.Ile287Leu
ENST00000453906.5:c.407-5486A>C	ENSP00000403035.1:n.407-5486A>C
ENST00000474944.5:n.427-5486A>C
ENST00000496213.5:n.324A>C
NM_001142301.1:c.616A>C , LRG_688t2:c.616A>C	NP_001135773.1:p.Ile206Leu
NM_153704.5:c.859A>C , LRG_688t1:c.859A>C	NP_714915.3:p.Ile287Leu
NR_024522.1:n.930A>C
XM_006716686.2:c.556A>C	XP_006716749.1:p.Ile186Leu
XM_006716687.2:c.259A>C	XP_006716750.1:p.Ile87Leu
XM_011517363.1:c.407-5486A>C	XP_011515665.1:n.407-5486A>C
XR_428387.1:n.917A>C
XR_928360.1:n.917A>C
XR_928361.1:n.917A>C
XR_928362.1:n.917A>C
XM_006716686.4:c.556A>C	XP_006716749.1:p.Ile186Leu
XM_011517363.3:c.407-5486A>C	XP_011515665.1:n.407-5486A>C
XM_024447326.1:c.205A>C	XP_024303094.1:p.Ile69Leu
XR_001745619.2:n.900A>C
XR_428387.2:n.900A>C
XR_928360.3:n.900A>C
XR_928362.3:n.900A>C
NM_153704.6:c.859A>C MANE Select	NP_714915.3:p.Ile287Leu
NR_024522.2:n.880A>C