Canonical Allele Identifier: CA371687796

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792870T>G (hg19) ; chr8:g.93780642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780642T>G , CM000670.2:g.93780642T>G	GRCh38
NC_000008.10:g.94792870T>G , CM000670.1:g.94792870T>G	GRCh37
NC_000008.9:g.94862046T>G	NCBI36
NG_009190.1:g.30799T>G , LRG_688:g.30799T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.764T>G	ENSP00000314488.4:p.Met255Arg
ENST00000409623.8:c.764T>G	ENSP00000386966.4:p.Met255Arg
ENST00000452276.6:c.764T>G	ENSP00000388671.2:p.Met255Arg
ENST00000453906.6:c.407-5581T>G	ENSP00000403035.2:n.407-5581T>G
ENST00000520680.2:c.764T>G	ENSP00000428785.2:p.Met255Arg
ENST00000521065.2:c.*481T>G	ENSP00000427947.2:n.*481T>G
ENST00000521517.6:c.764T>G	ENSP00000430740.2:p.Met255Arg
ENST00000681998.1:c.694T>G	ENSP00000506773.1:n.694T>G
ENST00000682036.1:c.407-5581T>G	ENSP00000508390.1:n.407-5581T>G
ENST00000682577.1:c.694T>G	ENSP00000506963.1:n.694T>G
ENST00000682624.1:c.*338T>G	ENSP00000508343.1:n.*338T>G
ENST00000682700.1:c.764T>G	ENSP00000507627.1:p.Met255Arg
ENST00000682744.1:n.302T>G
ENST00000682804.1:n.587T>G
ENST00000682837.1:c.519T>G	ENSP00000507920.1:p.Asp173Glu
ENST00000682935.1:n.2324T>G
ENST00000682984.1:c.425T>G	ENSP00000507209.1:p.Met142Arg
ENST00000683078.1:c.519T>G	ENSP00000506796.1:p.Asp173Glu
ENST00000683223.1:c.605T>G	ENSP00000507685.1:n.605T>G
ENST00000683238.1:n.2145T>G
ENST00000683249.1:n.2345T>G
ENST00000683336.1:c.694T>G	ENSP00000507695.1:n.694T>G
ENST00000683362.1:c.425T>G	ENSP00000506985.1:p.Met142Arg
ENST00000683850.1:n.687T>G
ENST00000683919.1:c.694T>G	ENSP00000507617.1:n.694T>G
ENST00000683953.1:c.675T>G	ENSP00000508375.1:n.675T>G
ENST00000684023.1:c.898T>G	ENSP00000507461.1:n.898T>G
ENST00000684064.1:c.455T>G	ENSP00000508192.1:p.Met152Arg
ENST00000684089.1:n.2314T>G
ENST00000684149.1:c.*100T>G	ENSP00000507943.1:n.*100T>G
ENST00000684416.1:n.723T>G
ENST00000684540.1:c.694T>G	ENSP00000507987.1:n.694T>G
ENST00000453321.8:c.764T>G MANE Select	ENSP00000389998.3:p.Met255Arg
ENST00000323130.7:c.734T>G	ENSP00000314488.3:p.Met245Arg
ENST00000409623.7:c.521T>G	ENSP00000386966.3:p.Met174Arg
ENST00000425545.2:n.211T>G
ENST00000452276.5:c.455T>G	ENSP00000388671.1:p.Met152Arg
ENST00000453321.7:c.764T>G	ENSP00000389998.3:p.Met255Arg
ENST00000453906.5:c.407-5581T>G	ENSP00000403035.1:n.407-5581T>G
ENST00000474944.5:n.427-5581T>G
ENST00000496213.5:n.229T>G
NM_001142301.1:c.521T>G , LRG_688t2:c.521T>G	NP_001135773.1:p.Met174Arg
NM_153704.5:c.764T>G , LRG_688t1:c.764T>G	NP_714915.3:p.Met255Arg
NR_024522.1:n.835T>G
XM_006716686.2:c.461T>G	XP_006716749.1:p.Met154Arg
XM_006716687.2:c.164T>G	XP_006716750.1:p.Met55Arg
XM_011517363.1:c.407-5581T>G	XP_011515665.1:n.407-5581T>G
XR_428387.1:n.822T>G
XR_928360.1:n.822T>G
XR_928361.1:n.822T>G
XR_928362.1:n.822T>G
XM_006716686.4:c.461T>G	XP_006716749.1:p.Met154Arg
XM_011517363.3:c.407-5581T>G	XP_011515665.1:n.407-5581T>G
XM_024447326.1:c.110T>G	XP_024303094.1:p.Met37Arg
XR_001745619.2:n.805T>G
XR_428387.2:n.805T>G
XR_928360.3:n.805T>G
XR_928362.3:n.805T>G
NM_153704.6:c.764T>G MANE Select	NP_714915.3:p.Met255Arg
NR_024522.2:n.785T>G