Canonical Allele Identifier: CA461855665

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792856A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780628A>G , CM000670.2:g.93780628A>G	GRCh38
NC_000008.10:g.94792856A>G , CM000670.1:g.94792856A>G	GRCh37
NC_000008.9:g.94862032A>G	NCBI36
NG_009190.1:g.30785A>G , LRG_688:g.30785A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.750A>G	ENSP00000314488.4:p.Gly250=
ENST00000409623.8:c.750A>G	ENSP00000386966.4:p.Gly250=
ENST00000452276.6:c.750A>G	ENSP00000388671.2:p.Gly250=
ENST00000453906.6:c.407-5595A>G	ENSP00000403035.2:n.407-5595A>G
ENST00000520680.2:c.750A>G	ENSP00000428785.2:p.Gly250=
ENST00000521065.2:c.*467A>G	ENSP00000427947.2:n.*467A>G
ENST00000521517.6:c.750A>G	ENSP00000430740.2:p.Gly250=
ENST00000681998.1:c.680A>G	ENSP00000506773.1:n.680A>G
ENST00000682036.1:c.407-5595A>G	ENSP00000508390.1:n.407-5595A>G
ENST00000682577.1:c.680A>G	ENSP00000506963.1:n.680A>G
ENST00000682624.1:c.*324A>G	ENSP00000508343.1:n.*324A>G
ENST00000682700.1:c.750A>G	ENSP00000507627.1:p.Gly250=
ENST00000682744.1:n.288A>G
ENST00000682804.1:n.573A>G
ENST00000682837.1:c.505A>G	ENSP00000507920.1:p.Lys169Glu
ENST00000682935.1:n.2310A>G
ENST00000682984.1:c.411A>G	ENSP00000507209.1:p.Gly137=
ENST00000683078.1:c.505A>G	ENSP00000506796.1:p.Lys169Glu
ENST00000683223.1:c.591A>G	ENSP00000507685.1:n.591A>G
ENST00000683238.1:n.2131A>G
ENST00000683249.1:n.2331A>G
ENST00000683336.1:c.680A>G	ENSP00000507695.1:n.680A>G
ENST00000683362.1:c.411A>G	ENSP00000506985.1:p.Gly137=
ENST00000683850.1:n.673A>G
ENST00000683919.1:c.680A>G	ENSP00000507617.1:n.680A>G
ENST00000683953.1:c.661A>G	ENSP00000508375.1:n.661A>G
ENST00000684023.1:c.884A>G	ENSP00000507461.1:n.884A>G
ENST00000684064.1:c.441A>G	ENSP00000508192.1:p.Gly147=
ENST00000684089.1:n.2300A>G
ENST00000684149.1:c.*86A>G	ENSP00000507943.1:n.*86A>G
ENST00000684416.1:n.709A>G
ENST00000684540.1:c.680A>G	ENSP00000507987.1:n.680A>G
ENST00000453321.8:c.750A>G MANE Select	ENSP00000389998.3:p.Gly250=
ENST00000323130.7:c.720A>G	ENSP00000314488.3:p.Gly240=
ENST00000409623.7:c.507A>G	ENSP00000386966.3:p.Gly169=
ENST00000425545.2:n.197A>G
ENST00000452276.5:c.441A>G	ENSP00000388671.1:p.Gly147=
ENST00000453321.7:c.750A>G	ENSP00000389998.3:p.Gly250=
ENST00000453906.5:c.407-5595A>G	ENSP00000403035.1:n.407-5595A>G
ENST00000474944.5:n.427-5595A>G
ENST00000496213.5:n.215A>G
NM_001142301.1:c.507A>G , LRG_688t2:c.507A>G	NP_001135773.1:p.Gly169=
NM_153704.5:c.750A>G , LRG_688t1:c.750A>G	NP_714915.3:p.Gly250=
NR_024522.1:n.821A>G
XM_006716686.2:c.447A>G	XP_006716749.1:p.Gly149=
XM_006716687.2:c.150A>G	XP_006716750.1:p.Gly50=
XM_011517363.1:c.407-5595A>G	XP_011515665.1:n.407-5595A>G
XR_428387.1:n.808A>G
XR_928360.1:n.808A>G
XR_928361.1:n.808A>G
XR_928362.1:n.808A>G
XM_006716686.4:c.447A>G	XP_006716749.1:p.Gly149=
XM_011517363.3:c.407-5595A>G	XP_011515665.1:n.407-5595A>G
XM_024447326.1:c.96A>G	XP_024303094.1:p.Gly32=
XR_001745619.2:n.791A>G
XR_428387.2:n.791A>G
XR_928360.3:n.791A>G
XR_928362.3:n.791A>G
NM_153704.6:c.750A>G MANE Select	NP_714915.3:p.Gly250=
NR_024522.2:n.771A>G