Canonical Allele Identifier: CA461855733

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780877-A-G
• MyVariant Identifiers: chr8:g.94793105A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780877A>G , CM000670.2:g.93780877A>G	GRCh38
NC_000008.10:g.94793105A>G , CM000670.1:g.94793105A>G	GRCh37
NC_000008.9:g.94862281A>G	NCBI36
NG_009190.1:g.31034A>G , LRG_688:g.31034A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.873A>G	ENSP00000314488.4:p.Arg291=
ENST00000409623.8:c.873A>G	ENSP00000386966.4:p.Arg291=
ENST00000452276.6:c.873A>G	ENSP00000388671.2:p.Arg291=
ENST00000453906.6:c.407-5346A>G	ENSP00000403035.2:n.407-5346A>G
ENST00000520680.2:c.873A>G	ENSP00000428785.2:p.Arg291=
ENST00000521065.2:c.*590A>G	ENSP00000427947.2:n.*590A>G
ENST00000521517.6:c.873A>G	ENSP00000430740.2:p.Arg291=
ENST00000681998.1:c.799+130A>G	ENSP00000506773.1:n.799+130A>G
ENST00000682036.1:c.407-5346A>G	ENSP00000508390.1:n.407-5346A>G
ENST00000682577.1:c.803A>G	ENSP00000506963.1:n.803A>G
ENST00000682624.1:c.*447A>G	ENSP00000508343.1:n.*447A>G
ENST00000682700.1:c.873A>G	ENSP00000507627.1:p.Arg291=
ENST00000682744.1:n.411A>G
ENST00000682804.1:n.696A>G
ENST00000682837.1:c.624+130A>G	ENSP00000507920.1:n.624+130A>G
ENST00000682935.1:n.2433A>G
ENST00000682984.1:c.534A>G	ENSP00000507209.1:p.Arg178=
ENST00000683078.1:c.628A>G	ENSP00000506796.1:n.628A>G
ENST00000683223.1:c.710+130A>G	ENSP00000507685.1:n.710+130A>G
ENST00000683238.1:n.2254A>G
ENST00000683249.1:n.2470A>G
ENST00000683336.1:c.799+130A>G	ENSP00000507695.1:n.799+130A>G
ENST00000683362.1:c.534A>G	ENSP00000506985.1:p.Arg178=
ENST00000683850.1:n.796A>G
ENST00000683919.1:c.803A>G	ENSP00000507617.1:n.803A>G
ENST00000683953.1:c.784A>G	ENSP00000508375.1:n.784A>G
ENST00000684023.1:c.1007A>G	ENSP00000507461.1:n.1007A>G
ENST00000684064.1:c.564A>G	ENSP00000508192.1:p.Arg188=
ENST00000684089.1:n.2423A>G
ENST00000684149.1:c.*209A>G	ENSP00000507943.1:n.*209A>G
ENST00000684416.1:n.832A>G
ENST00000684540.1:c.803A>G	ENSP00000507987.1:n.803A>G
ENST00000453321.8:c.873A>G MANE Select	ENSP00000389998.3:p.Arg291=
ENST00000323130.7:c.843A>G	ENSP00000314488.3:p.Arg281=
ENST00000409623.7:c.630A>G	ENSP00000386966.3:p.Arg210=
ENST00000425545.2:n.320A>G
ENST00000452276.5:c.564A>G	ENSP00000388671.1:p.Arg188=
ENST00000453321.7:c.873A>G	ENSP00000389998.3:p.Arg291=
ENST00000453906.5:c.407-5346A>G	ENSP00000403035.1:n.407-5346A>G
ENST00000474944.5:n.427-5346A>G
ENST00000496213.5:n.338A>G
NM_001142301.1:c.630A>G , LRG_688t2:c.630A>G	NP_001135773.1:p.Arg210=
NM_153704.5:c.873A>G , LRG_688t1:c.873A>G	NP_714915.3:p.Arg291=
NR_024522.1:n.944A>G
XM_006716686.2:c.570A>G	XP_006716749.1:p.Arg190=
XM_006716687.2:c.273A>G	XP_006716750.1:p.Arg91=
XM_011517363.1:c.407-5346A>G	XP_011515665.1:n.407-5346A>G
XR_428387.1:n.931A>G
XR_928360.1:n.931A>G
XR_928361.1:n.931A>G
XR_928362.1:n.931A>G
XM_006716686.4:c.570A>G	XP_006716749.1:p.Arg190=
XM_011517363.3:c.407-5346A>G	XP_011515665.1:n.407-5346A>G
XM_024447326.1:c.219A>G	XP_024303094.1:p.Arg73=
XR_001745619.2:n.914A>G
XR_428387.2:n.914A>G
XR_928360.3:n.914A>G
XR_928362.3:n.914A>G
NM_153704.6:c.873A>G MANE Select	NP_714915.3:p.Arg291=
NR_024522.2:n.894A>G