Canonical Allele Identifier: CA371687810

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792876T>G (hg19) ; chr8:g.93780648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780648T>G , CM000670.2:g.93780648T>G	GRCh38
NC_000008.10:g.94792876T>G , CM000670.1:g.94792876T>G	GRCh37
NC_000008.9:g.94862052T>G	NCBI36
NG_009190.1:g.30805T>G , LRG_688:g.30805T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.770T>G	ENSP00000314488.4:p.Met257Arg
ENST00000409623.8:c.770T>G	ENSP00000386966.4:p.Met257Arg
ENST00000452276.6:c.770T>G	ENSP00000388671.2:p.Met257Arg
ENST00000453906.6:c.407-5575T>G	ENSP00000403035.2:n.407-5575T>G
ENST00000520680.2:c.770T>G	ENSP00000428785.2:p.Met257Arg
ENST00000521065.2:c.*487T>G	ENSP00000427947.2:n.*487T>G
ENST00000521517.6:c.770T>G	ENSP00000430740.2:p.Met257Arg
ENST00000681998.1:c.700T>G	ENSP00000506773.1:n.700T>G
ENST00000682036.1:c.407-5575T>G	ENSP00000508390.1:n.407-5575T>G
ENST00000682577.1:c.700T>G	ENSP00000506963.1:n.700T>G
ENST00000682624.1:c.*344T>G	ENSP00000508343.1:n.*344T>G
ENST00000682700.1:c.770T>G	ENSP00000507627.1:p.Met257Arg
ENST00000682744.1:n.308T>G
ENST00000682804.1:n.593T>G
ENST00000682837.1:c.525T>G	ENSP00000507920.1:p.His175Gln
ENST00000682935.1:n.2330T>G
ENST00000682984.1:c.431T>G	ENSP00000507209.1:p.Met144Arg
ENST00000683078.1:c.525T>G	ENSP00000506796.1:p.His175Gln
ENST00000683223.1:c.611T>G	ENSP00000507685.1:n.611T>G
ENST00000683238.1:n.2151T>G
ENST00000683249.1:n.2351T>G
ENST00000683336.1:c.700T>G	ENSP00000507695.1:n.700T>G
ENST00000683362.1:c.431T>G	ENSP00000506985.1:p.Met144Arg
ENST00000683850.1:n.693T>G
ENST00000683919.1:c.700T>G	ENSP00000507617.1:n.700T>G
ENST00000683953.1:c.681T>G	ENSP00000508375.1:n.681T>G
ENST00000684023.1:c.904T>G	ENSP00000507461.1:n.904T>G
ENST00000684064.1:c.461T>G	ENSP00000508192.1:p.Met154Arg
ENST00000684089.1:n.2320T>G
ENST00000684149.1:c.*106T>G	ENSP00000507943.1:n.*106T>G
ENST00000684416.1:n.729T>G
ENST00000684540.1:c.700T>G	ENSP00000507987.1:n.700T>G
ENST00000453321.8:c.770T>G MANE Select	ENSP00000389998.3:p.Met257Arg
ENST00000323130.7:c.740T>G	ENSP00000314488.3:p.Met247Arg
ENST00000409623.7:c.527T>G	ENSP00000386966.3:p.Met176Arg
ENST00000425545.2:n.217T>G
ENST00000452276.5:c.461T>G	ENSP00000388671.1:p.Met154Arg
ENST00000453321.7:c.770T>G	ENSP00000389998.3:p.Met257Arg
ENST00000453906.5:c.407-5575T>G	ENSP00000403035.1:n.407-5575T>G
ENST00000474944.5:n.427-5575T>G
ENST00000496213.5:n.235T>G
NM_001142301.1:c.527T>G , LRG_688t2:c.527T>G	NP_001135773.1:p.Met176Arg
NM_153704.5:c.770T>G , LRG_688t1:c.770T>G	NP_714915.3:p.Met257Arg
NR_024522.1:n.841T>G
XM_006716686.2:c.467T>G	XP_006716749.1:p.Met156Arg
XM_006716687.2:c.170T>G	XP_006716750.1:p.Met57Arg
XM_011517363.1:c.407-5575T>G	XP_011515665.1:n.407-5575T>G
XR_428387.1:n.828T>G
XR_928360.1:n.828T>G
XR_928361.1:n.828T>G
XR_928362.1:n.828T>G
XM_006716686.4:c.467T>G	XP_006716749.1:p.Met156Arg
XM_011517363.3:c.407-5575T>G	XP_011515665.1:n.407-5575T>G
XM_024447326.1:c.116T>G	XP_024303094.1:p.Met39Arg
XR_001745619.2:n.811T>G
XR_428387.2:n.811T>G
XR_928360.3:n.811T>G
XR_928362.3:n.811T>G
NM_153704.6:c.770T>G MANE Select	NP_714915.3:p.Met257Arg
NR_024522.2:n.791T>G