Canonical Allele Identifier: CA371699061

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821142G>T (hg19) ; chr8:g.93808914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808914G>T , CM000670.2:g.93808914G>T	GRCh38
NC_000008.10:g.94821142G>T , CM000670.1:g.94821142G>T	GRCh37
NC_000008.9:g.94890318G>T	NCBI36
NG_009190.1:g.59071G>T , LRG_688:g.59071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2514G>T	ENSP00000314488.4:p.Gln838His
ENST00000409623.8:c.2469G>T	ENSP00000386966.4:p.Gln823His
ENST00000452276.6:c.2397G>T	ENSP00000388671.2:p.Gln799His
ENST00000453906.6:c.1632G>T	ENSP00000403035.2:p.Gln544His
ENST00000518896.2:c.805G>T	ENSP00000507992.1:n.805G>T
ENST00000520680.2:c.2637G>T	ENSP00000428785.2:p.Gln879His
ENST00000521517.6:c.2415G>T	ENSP00000430740.2:p.Gln805His
ENST00000681998.1:c.2335G>T	ENSP00000506773.1:n.2335G>T
ENST00000682036.1:c.1755G>T	ENSP00000508390.1:p.Gln585His
ENST00000682577.1:c.2287G>T	ENSP00000506963.1:n.2287G>T
ENST00000682624.1:c.*2088G>T	ENSP00000508343.1:n.*2088G>T
ENST00000682700.1:c.2514G>T	ENSP00000507627.1:p.Gln838His
ENST00000682744.1:n.2052G>T
ENST00000682804.1:n.2337G>T
ENST00000682837.1:c.2003G>T	ENSP00000507920.1:n.2003G>T
ENST00000682935.1:n.4564G>T
ENST00000682984.1:c.2175G>T	ENSP00000507209.1:p.Gln725His
ENST00000683078.1:c.2269G>T	ENSP00000506796.1:n.2269G>T
ENST00000683223.1:c.2246G>T	ENSP00000507685.1:n.2246G>T
ENST00000683238.1:n.3738G>T
ENST00000683249.1:n.4111G>T
ENST00000683336.1:c.2335G>T	ENSP00000507695.1:n.2335G>T
ENST00000683362.1:c.2175G>T	ENSP00000506985.1:p.Gln725His
ENST00000683850.1:n.2437G>T
ENST00000683919.1:c.2444G>T	ENSP00000507617.1:n.2444G>T
ENST00000683953.1:c.2425G>T	ENSP00000508375.1:n.2425G>T
ENST00000684023.1:c.2491G>T	ENSP00000507461.1:n.2491G>T
ENST00000684064.1:c.2205G>T	ENSP00000508192.1:p.Gln735His
ENST00000684089.1:n.4064G>T
ENST00000684149.1:c.*1693G>T	ENSP00000507943.1:n.*1693G>T
ENST00000684343.1:c.711G>T	ENSP00000507591.1:p.Gln237His
ENST00000684416.1:n.2473G>T
ENST00000684540.1:c.2444G>T	ENSP00000507987.1:n.2444G>T
ENST00000453321.8:c.2514G>T MANE Select	ENSP00000389998.3:p.Gln838His
ENST00000323130.7:c.2484G>T	ENSP00000314488.3:p.Gln828His
ENST00000409623.7:c.2271G>T	ENSP00000386966.3:p.Gln757His
ENST00000453321.7:c.2514G>T	ENSP00000389998.3:p.Gln838His
ENST00000474944.5:n.1652G>T
ENST00000519845.5:n.1246G>T
NM_001142301.1:c.2271G>T , LRG_688t2:c.2271G>T	NP_001135773.1:p.Gln757His
NM_153704.5:c.2514G>T , LRG_688t1:c.2514G>T	NP_714915.3:p.Gln838His
NR_024522.1:n.2585G>T
XM_006716686.2:c.2211G>T	XP_006716749.1:p.Gln737His
XM_006716687.2:c.1914G>T	XP_006716750.1:p.Gln638His
XM_011517363.1:c.1632G>T	XP_011515665.1:p.Gln544His
XR_428387.1:n.2572G>T
XR_928360.1:n.2572G>T
XR_928361.1:n.2572G>T
XR_928362.1:n.2572G>T
XM_006716686.4:c.2211G>T	XP_006716749.1:p.Gln737His
XM_011517363.3:c.1632G>T	XP_011515665.1:p.Gln544His
XM_024447326.1:c.1860G>T	XP_024303094.1:p.Gln620His
XR_001745619.2:n.2555G>T
XR_428387.2:n.2555G>T
XR_928360.3:n.2555G>T
XR_928362.3:n.2555G>T
NM_153704.6:c.2514G>T MANE Select	NP_714915.3:p.Gln838His
NR_024522.2:n.2535G>T