Canonical Allele Identifier: CA461867426

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821118T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808890T>G , CM000670.2:g.93808890T>G	GRCh38
NC_000008.10:g.94821118T>G , CM000670.1:g.94821118T>G	GRCh37
NC_000008.9:g.94890294T>G	NCBI36
NG_009190.1:g.59047T>G , LRG_688:g.59047T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2490T>G	ENSP00000314488.4:p.Thr830=
ENST00000409623.8:c.2445T>G	ENSP00000386966.4:p.Thr815=
ENST00000452276.6:c.2373T>G	ENSP00000388671.2:p.Thr791=
ENST00000453906.6:c.1608T>G	ENSP00000403035.2:p.Thr536=
ENST00000518896.2:c.781T>G	ENSP00000507992.1:n.781T>G
ENST00000520680.2:c.2613T>G	ENSP00000428785.2:p.Thr871=
ENST00000521517.6:c.2391T>G	ENSP00000430740.2:p.Thr797=
ENST00000681998.1:c.2311T>G	ENSP00000506773.1:n.2311T>G
ENST00000682036.1:c.1731T>G	ENSP00000508390.1:p.Thr577=
ENST00000682577.1:c.2263T>G	ENSP00000506963.1:n.2263T>G
ENST00000682624.1:c.*2064T>G	ENSP00000508343.1:n.*2064T>G
ENST00000682700.1:c.2490T>G	ENSP00000507627.1:p.Thr830=
ENST00000682744.1:n.2028T>G
ENST00000682804.1:n.2313T>G
ENST00000682837.1:c.1979T>G	ENSP00000507920.1:n.1979T>G
ENST00000682935.1:n.4540T>G
ENST00000682984.1:c.2151T>G	ENSP00000507209.1:p.Thr717=
ENST00000683078.1:c.2245T>G	ENSP00000506796.1:n.2245T>G
ENST00000683223.1:c.2222T>G	ENSP00000507685.1:n.2222T>G
ENST00000683238.1:n.3714T>G
ENST00000683249.1:n.4087T>G
ENST00000683336.1:c.2311T>G	ENSP00000507695.1:n.2311T>G
ENST00000683362.1:c.2151T>G	ENSP00000506985.1:p.Thr717=
ENST00000683850.1:n.2413T>G
ENST00000683919.1:c.2420T>G	ENSP00000507617.1:n.2420T>G
ENST00000683953.1:c.2401T>G	ENSP00000508375.1:n.2401T>G
ENST00000684023.1:c.2467T>G	ENSP00000507461.1:n.2467T>G
ENST00000684064.1:c.2181T>G	ENSP00000508192.1:p.Thr727=
ENST00000684089.1:n.4040T>G
ENST00000684149.1:c.*1669T>G	ENSP00000507943.1:n.*1669T>G
ENST00000684343.1:c.687T>G	ENSP00000507591.1:p.Thr229=
ENST00000684416.1:n.2449T>G
ENST00000684540.1:c.2420T>G	ENSP00000507987.1:n.2420T>G
ENST00000453321.8:c.2490T>G MANE Select	ENSP00000389998.3:p.Thr830=
ENST00000323130.7:c.2460T>G	ENSP00000314488.3:p.Thr820=
ENST00000409623.7:c.2247T>G	ENSP00000386966.3:p.Thr749=
ENST00000453321.7:c.2490T>G	ENSP00000389998.3:p.Thr830=
ENST00000474944.5:n.1628T>G
ENST00000519845.5:n.1222T>G
NM_001142301.1:c.2247T>G , LRG_688t2:c.2247T>G	NP_001135773.1:p.Thr749=
NM_153704.5:c.2490T>G , LRG_688t1:c.2490T>G	NP_714915.3:p.Thr830=
NR_024522.1:n.2561T>G
XM_006716686.2:c.2187T>G	XP_006716749.1:p.Thr729=
XM_006716687.2:c.1890T>G	XP_006716750.1:p.Thr630=
XM_011517363.1:c.1608T>G	XP_011515665.1:p.Thr536=
XR_428387.1:n.2548T>G
XR_928360.1:n.2548T>G
XR_928361.1:n.2548T>G
XR_928362.1:n.2548T>G
XM_006716686.4:c.2187T>G	XP_006716749.1:p.Thr729=
XM_011517363.3:c.1608T>G	XP_011515665.1:p.Thr536=
XM_024447326.1:c.1836T>G	XP_024303094.1:p.Thr612=
XR_001745619.2:n.2531T>G
XR_428387.2:n.2531T>G
XR_928360.3:n.2531T>G
XR_928362.3:n.2531T>G
NM_153704.6:c.2490T>G MANE Select	NP_714915.3:p.Thr830=
NR_024522.2:n.2511T>G