Canonical Allele Identifier: CA371688184

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94793108G>T (hg19) ; chr8:g.93780880G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780880G>T , CM000670.2:g.93780880G>T	GRCh38
NC_000008.10:g.94793108G>T , CM000670.1:g.94793108G>T	GRCh37
NC_000008.9:g.94862284G>T	NCBI36
NG_009190.1:g.31037G>T , LRG_688:g.31037G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.876G>T	ENSP00000314488.4:p.Gln292His
ENST00000409623.8:c.876G>T	ENSP00000386966.4:p.Gln292His
ENST00000452276.6:c.876G>T	ENSP00000388671.2:p.Gln292His
ENST00000453906.6:c.407-5343G>T	ENSP00000403035.2:n.407-5343G>T
ENST00000520680.2:c.876G>T	ENSP00000428785.2:p.Gln292His
ENST00000521065.2:c.*593G>T	ENSP00000427947.2:n.*593G>T
ENST00000521517.6:c.876G>T	ENSP00000430740.2:p.Gln292His
ENST00000681998.1:c.799+133G>T	ENSP00000506773.1:n.799+133G>T
ENST00000682036.1:c.407-5343G>T	ENSP00000508390.1:n.407-5343G>T
ENST00000682577.1:c.806G>T	ENSP00000506963.1:n.806G>T
ENST00000682624.1:c.*450G>T	ENSP00000508343.1:n.*450G>T
ENST00000682700.1:c.876G>T	ENSP00000507627.1:p.Gln292His
ENST00000682744.1:n.414G>T
ENST00000682804.1:n.699G>T
ENST00000682837.1:c.624+133G>T	ENSP00000507920.1:n.624+133G>T
ENST00000682935.1:n.2436G>T
ENST00000682984.1:c.537G>T	ENSP00000507209.1:p.Gln179His
ENST00000683078.1:c.631G>T	ENSP00000506796.1:n.631G>T
ENST00000683223.1:c.710+133G>T	ENSP00000507685.1:n.710+133G>T
ENST00000683238.1:n.2257G>T
ENST00000683249.1:n.2473G>T
ENST00000683336.1:c.799+133G>T	ENSP00000507695.1:n.799+133G>T
ENST00000683362.1:c.537G>T	ENSP00000506985.1:p.Gln179His
ENST00000683850.1:n.799G>T
ENST00000683919.1:c.806G>T	ENSP00000507617.1:n.806G>T
ENST00000683953.1:c.787G>T	ENSP00000508375.1:n.787G>T
ENST00000684023.1:c.1010G>T	ENSP00000507461.1:n.1010G>T
ENST00000684064.1:c.567G>T	ENSP00000508192.1:p.Gln189His
ENST00000684089.1:n.2426G>T
ENST00000684149.1:c.*212G>T	ENSP00000507943.1:n.*212G>T
ENST00000684416.1:n.835G>T
ENST00000684540.1:c.806G>T	ENSP00000507987.1:n.806G>T
ENST00000453321.8:c.876G>T MANE Select	ENSP00000389998.3:p.Gln292His
ENST00000323130.7:c.846G>T	ENSP00000314488.3:p.Gln282His
ENST00000409623.7:c.633G>T	ENSP00000386966.3:p.Gln211His
ENST00000425545.2:n.323G>T
ENST00000452276.5:c.567G>T	ENSP00000388671.1:p.Gln189His
ENST00000453321.7:c.876G>T	ENSP00000389998.3:p.Gln292His
ENST00000453906.5:c.407-5343G>T	ENSP00000403035.1:n.407-5343G>T
ENST00000474944.5:n.427-5343G>T
ENST00000496213.5:n.341G>T
NM_001142301.1:c.633G>T , LRG_688t2:c.633G>T	NP_001135773.1:p.Gln211His
NM_153704.5:c.876G>T , LRG_688t1:c.876G>T	NP_714915.3:p.Gln292His
NR_024522.1:n.947G>T
XM_006716686.2:c.573G>T	XP_006716749.1:p.Gln191His
XM_006716687.2:c.276G>T	XP_006716750.1:p.Gln92His
XM_011517363.1:c.407-5343G>T	XP_011515665.1:n.407-5343G>T
XR_428387.1:n.934G>T
XR_928360.1:n.934G>T
XR_928361.1:n.934G>T
XR_928362.1:n.934G>T
XM_006716686.4:c.573G>T	XP_006716749.1:p.Gln191His
XM_011517363.3:c.407-5343G>T	XP_011515665.1:n.407-5343G>T
XM_024447326.1:c.222G>T	XP_024303094.1:p.Gln74His
XR_001745619.2:n.917G>T
XR_428387.2:n.917G>T
XR_928360.3:n.917G>T
XR_928362.3:n.917G>T
NM_153704.6:c.876G>T MANE Select	NP_714915.3:p.Gln292His
NR_024522.2:n.897G>T