Canonical Allele Identifier: CA371698994

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821114A>G (hg19) ; chr8:g.93808886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808886A>G , CM000670.2:g.93808886A>G	GRCh38
NC_000008.10:g.94821114A>G , CM000670.1:g.94821114A>G	GRCh37
NC_000008.9:g.94890290A>G	NCBI36
NG_009190.1:g.59043A>G , LRG_688:g.59043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2486A>G	ENSP00000314488.4:p.Gln829Arg
ENST00000409623.8:c.2441A>G	ENSP00000386966.4:p.Gln814Arg
ENST00000452276.6:c.2369A>G	ENSP00000388671.2:p.Gln790Arg
ENST00000453906.6:c.1604A>G	ENSP00000403035.2:p.Gln535Arg
ENST00000518896.2:c.777A>G	ENSP00000507992.1:n.777A>G
ENST00000520680.2:c.2609A>G	ENSP00000428785.2:p.Gln870Arg
ENST00000521517.6:c.2387A>G	ENSP00000430740.2:p.Gln796Arg
ENST00000681998.1:c.2307A>G	ENSP00000506773.1:n.2307A>G
ENST00000682036.1:c.1727A>G	ENSP00000508390.1:p.Gln576Arg
ENST00000682577.1:c.2259A>G	ENSP00000506963.1:n.2259A>G
ENST00000682624.1:c.*2060A>G	ENSP00000508343.1:n.*2060A>G
ENST00000682700.1:c.2486A>G	ENSP00000507627.1:p.Gln829Arg
ENST00000682744.1:n.2024A>G
ENST00000682804.1:n.2309A>G
ENST00000682837.1:c.1975A>G	ENSP00000507920.1:n.1975A>G
ENST00000682935.1:n.4536A>G
ENST00000682984.1:c.2147A>G	ENSP00000507209.1:p.Gln716Arg
ENST00000683078.1:c.2241A>G	ENSP00000506796.1:n.2241A>G
ENST00000683223.1:c.2218A>G	ENSP00000507685.1:n.2218A>G
ENST00000683238.1:n.3710A>G
ENST00000683249.1:n.4083A>G
ENST00000683336.1:c.2307A>G	ENSP00000507695.1:n.2307A>G
ENST00000683362.1:c.2147A>G	ENSP00000506985.1:p.Gln716Arg
ENST00000683850.1:n.2409A>G
ENST00000683919.1:c.2416A>G	ENSP00000507617.1:n.2416A>G
ENST00000683953.1:c.2397A>G	ENSP00000508375.1:n.2397A>G
ENST00000684023.1:c.2463A>G	ENSP00000507461.1:n.2463A>G
ENST00000684064.1:c.2177A>G	ENSP00000508192.1:p.Gln726Arg
ENST00000684089.1:n.4036A>G
ENST00000684149.1:c.*1665A>G	ENSP00000507943.1:n.*1665A>G
ENST00000684343.1:c.683A>G	ENSP00000507591.1:p.Gln228Arg
ENST00000684416.1:n.2445A>G
ENST00000684540.1:c.2416A>G	ENSP00000507987.1:n.2416A>G
ENST00000453321.8:c.2486A>G MANE Select	ENSP00000389998.3:p.Gln829Arg
ENST00000323130.7:c.2456A>G	ENSP00000314488.3:p.Gln819Arg
ENST00000409623.7:c.2243A>G	ENSP00000386966.3:p.Gln748Arg
ENST00000453321.7:c.2486A>G	ENSP00000389998.3:p.Gln829Arg
ENST00000474944.5:n.1624A>G
ENST00000519845.5:n.1218A>G
NM_001142301.1:c.2243A>G , LRG_688t2:c.2243A>G	NP_001135773.1:p.Gln748Arg
NM_153704.5:c.2486A>G , LRG_688t1:c.2486A>G	NP_714915.3:p.Gln829Arg
NR_024522.1:n.2557A>G
XM_006716686.2:c.2183A>G	XP_006716749.1:p.Gln728Arg
XM_006716687.2:c.1886A>G	XP_006716750.1:p.Gln629Arg
XM_011517363.1:c.1604A>G	XP_011515665.1:p.Gln535Arg
XR_428387.1:n.2544A>G
XR_928360.1:n.2544A>G
XR_928361.1:n.2544A>G
XR_928362.1:n.2544A>G
XM_006716686.4:c.2183A>G	XP_006716749.1:p.Gln728Arg
XM_011517363.3:c.1604A>G	XP_011515665.1:p.Gln535Arg
XM_024447326.1:c.1832A>G	XP_024303094.1:p.Gln611Arg
XR_001745619.2:n.2527A>G
XR_428387.2:n.2527A>G
XR_928360.3:n.2527A>G
XR_928362.3:n.2527A>G
NM_153704.6:c.2486A>G MANE Select	NP_714915.3:p.Gln829Arg
NR_024522.2:n.2507A>G