Canonical Allele Identifier: CA371698935

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821096T>A (hg19) ; chr8:g.93808868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808868T>A , CM000670.2:g.93808868T>A	GRCh38
NC_000008.10:g.94821096T>A , CM000670.1:g.94821096T>A	GRCh37
NC_000008.9:g.94890272T>A	NCBI36
NG_009190.1:g.59025T>A , LRG_688:g.59025T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2468T>A	ENSP00000314488.4:p.Val823Glu
ENST00000409623.8:c.2423T>A	ENSP00000386966.4:p.Val808Glu
ENST00000452276.6:c.2351T>A	ENSP00000388671.2:p.Val784Glu
ENST00000453906.6:c.1586T>A	ENSP00000403035.2:p.Val529Glu
ENST00000518896.2:c.759T>A	ENSP00000507992.1:n.759T>A
ENST00000520680.2:c.2591T>A	ENSP00000428785.2:p.Val864Glu
ENST00000521517.6:c.2369T>A	ENSP00000430740.2:p.Val790Glu
ENST00000681998.1:c.2289T>A	ENSP00000506773.1:n.2289T>A
ENST00000682036.1:c.1709T>A	ENSP00000508390.1:p.Val570Glu
ENST00000682577.1:c.2241T>A	ENSP00000506963.1:n.2241T>A
ENST00000682624.1:c.*2042T>A	ENSP00000508343.1:n.*2042T>A
ENST00000682700.1:c.2468T>A	ENSP00000507627.1:p.Val823Glu
ENST00000682744.1:n.2006T>A
ENST00000682804.1:n.2291T>A
ENST00000682837.1:c.1957T>A	ENSP00000507920.1:n.1957T>A
ENST00000682935.1:n.4518T>A
ENST00000682984.1:c.2129T>A	ENSP00000507209.1:p.Val710Glu
ENST00000683078.1:c.2223T>A	ENSP00000506796.1:n.2223T>A
ENST00000683223.1:c.2200T>A	ENSP00000507685.1:n.2200T>A
ENST00000683238.1:n.3692T>A
ENST00000683249.1:n.4065T>A
ENST00000683336.1:c.2289T>A	ENSP00000507695.1:n.2289T>A
ENST00000683362.1:c.2129T>A	ENSP00000506985.1:p.Val710Glu
ENST00000683850.1:n.2391T>A
ENST00000683919.1:c.2398T>A	ENSP00000507617.1:n.2398T>A
ENST00000683953.1:c.2379T>A	ENSP00000508375.1:n.2379T>A
ENST00000684023.1:c.2445T>A	ENSP00000507461.1:n.2445T>A
ENST00000684064.1:c.2159T>A	ENSP00000508192.1:p.Val720Glu
ENST00000684089.1:n.4018T>A
ENST00000684149.1:c.*1647T>A	ENSP00000507943.1:n.*1647T>A
ENST00000684343.1:c.665T>A	ENSP00000507591.1:p.Val222Glu
ENST00000684416.1:n.2427T>A
ENST00000684540.1:c.2398T>A	ENSP00000507987.1:n.2398T>A
ENST00000453321.8:c.2468T>A MANE Select	ENSP00000389998.3:p.Val823Glu
ENST00000323130.7:c.2438T>A	ENSP00000314488.3:p.Val813Glu
ENST00000409623.7:c.2225T>A	ENSP00000386966.3:p.Val742Glu
ENST00000453321.7:c.2468T>A	ENSP00000389998.3:p.Val823Glu
ENST00000474944.5:n.1606T>A
ENST00000519845.5:n.1200T>A
NM_001142301.1:c.2225T>A , LRG_688t2:c.2225T>A	NP_001135773.1:p.Val742Glu
NM_153704.5:c.2468T>A , LRG_688t1:c.2468T>A	NP_714915.3:p.Val823Glu
NR_024522.1:n.2539T>A
XM_006716686.2:c.2165T>A	XP_006716749.1:p.Val722Glu
XM_006716687.2:c.1868T>A	XP_006716750.1:p.Val623Glu
XM_011517363.1:c.1586T>A	XP_011515665.1:p.Val529Glu
XR_428387.1:n.2526T>A
XR_928360.1:n.2526T>A
XR_928361.1:n.2526T>A
XR_928362.1:n.2526T>A
XM_006716686.4:c.2165T>A	XP_006716749.1:p.Val722Glu
XM_011517363.3:c.1586T>A	XP_011515665.1:p.Val529Glu
XM_024447326.1:c.1814T>A	XP_024303094.1:p.Val605Glu
XR_001745619.2:n.2509T>A
XR_428387.2:n.2509T>A
XR_928360.3:n.2509T>A
XR_928362.3:n.2509T>A
NM_153704.6:c.2468T>A MANE Select	NP_714915.3:p.Val823Glu
NR_024522.2:n.2489T>A