Canonical Allele Identifier: CA371698939

Gene: TMEM67

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2468T>G	ENSP00000314488.4:p.Val823Gly
ENST00000409623.8:c.2423T>G	ENSP00000386966.4:p.Val808Gly
ENST00000452276.6:c.2351T>G	ENSP00000388671.2:p.Val784Gly
ENST00000453906.6:c.1586T>G	ENSP00000403035.2:p.Val529Gly
ENST00000518896.2:c.759T>G	ENSP00000507992.1:n.759T>G
ENST00000520680.2:c.2591T>G	ENSP00000428785.2:p.Val864Gly
ENST00000521517.6:c.2369T>G	ENSP00000430740.2:p.Val790Gly
ENST00000681998.1:c.2289T>G	ENSP00000506773.1:n.2289T>G
ENST00000682036.1:c.1709T>G	ENSP00000508390.1:p.Val570Gly
ENST00000682577.1:c.2241T>G	ENSP00000506963.1:n.2241T>G
ENST00000682624.1:c.*2042T>G	ENSP00000508343.1:n.*2042T>G
ENST00000682700.1:c.2468T>G	ENSP00000507627.1:p.Val823Gly
ENST00000682744.1:n.2006T>G
ENST00000682804.1:n.2291T>G
ENST00000682837.1:c.1957T>G	ENSP00000507920.1:n.1957T>G
ENST00000682935.1:n.4518T>G
ENST00000682984.1:c.2129T>G	ENSP00000507209.1:p.Val710Gly
ENST00000683078.1:c.2223T>G	ENSP00000506796.1:n.2223T>G
ENST00000683223.1:c.2200T>G	ENSP00000507685.1:n.2200T>G
ENST00000683238.1:n.3692T>G
ENST00000683249.1:n.4065T>G
ENST00000683336.1:c.2289T>G	ENSP00000507695.1:n.2289T>G
ENST00000683362.1:c.2129T>G	ENSP00000506985.1:p.Val710Gly
ENST00000683850.1:n.2391T>G
ENST00000683919.1:c.2398T>G	ENSP00000507617.1:n.2398T>G
ENST00000683953.1:c.2379T>G	ENSP00000508375.1:n.2379T>G
ENST00000684023.1:c.2445T>G	ENSP00000507461.1:n.2445T>G
ENST00000684064.1:c.2159T>G	ENSP00000508192.1:p.Val720Gly
ENST00000684089.1:n.4018T>G
ENST00000684149.1:c.*1647T>G	ENSP00000507943.1:n.*1647T>G
ENST00000684343.1:c.665T>G	ENSP00000507591.1:p.Val222Gly
ENST00000684416.1:n.2427T>G
ENST00000684540.1:c.2398T>G	ENSP00000507987.1:n.2398T>G
ENST00000453321.8:c.2468T>G MANE Select	ENSP00000389998.3:p.Val823Gly
ENST00000323130.7:c.2438T>G	ENSP00000314488.3:p.Val813Gly
ENST00000409623.7:c.2225T>G	ENSP00000386966.3:p.Val742Gly
ENST00000453321.7:c.2468T>G	ENSP00000389998.3:p.Val823Gly
ENST00000474944.5:n.1606T>G
ENST00000519845.5:n.1200T>G
NM_001142301.1:c.2225T>G , LRG_688t2:c.2225T>G	NP_001135773.1:p.Val742Gly
NM_153704.5:c.2468T>G , LRG_688t1:c.2468T>G	NP_714915.3:p.Val823Gly
NR_024522.1:n.2539T>G
XM_006716686.2:c.2165T>G	XP_006716749.1:p.Val722Gly
XM_006716687.2:c.1868T>G	XP_006716750.1:p.Val623Gly
XM_011517363.1:c.1586T>G	XP_011515665.1:p.Val529Gly
XR_428387.1:n.2526T>G
XR_928360.1:n.2526T>G
XR_928361.1:n.2526T>G
XR_928362.1:n.2526T>G
XM_006716686.4:c.2165T>G	XP_006716749.1:p.Val722Gly
XM_011517363.3:c.1586T>G	XP_011515665.1:p.Val529Gly
XM_024447326.1:c.1814T>G	XP_024303094.1:p.Val605Gly
XR_001745619.2:n.2509T>G
XR_428387.2:n.2509T>G
XR_928360.3:n.2509T>G
XR_928362.3:n.2509T>G
NM_153704.6:c.2468T>G MANE Select	NP_714915.3:p.Val823Gly
NR_024522.2:n.2489T>G