Canonical Allele Identifier: CA371688507

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94793200G>A (hg19) ; chr8:g.93780972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780972G>A , CM000670.2:g.93780972G>A	GRCh38
NC_000008.10:g.94793200G>A , CM000670.1:g.94793200G>A	GRCh37
NC_000008.9:g.94862376G>A	NCBI36
NG_009190.1:g.31129G>A , LRG_688:g.31129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.968G>A	ENSP00000314488.4:p.Gly323Glu
ENST00000409623.8:c.968G>A	ENSP00000386966.4:p.Gly323Glu
ENST00000452276.6:c.968G>A	ENSP00000388671.2:p.Gly323Glu
ENST00000453906.6:c.407-5251G>A	ENSP00000403035.2:n.407-5251G>A
ENST00000520680.2:c.968G>A	ENSP00000428785.2:p.Gly323Glu
ENST00000521065.2:c.*685G>A	ENSP00000427947.2:n.*685G>A
ENST00000521517.6:c.968G>A	ENSP00000430740.2:p.Gly323Glu
ENST00000681998.1:c.799+225G>A	ENSP00000506773.1:n.799+225G>A
ENST00000682036.1:c.407-5251G>A	ENSP00000508390.1:n.407-5251G>A
ENST00000682577.1:c.898G>A	ENSP00000506963.1:n.898G>A
ENST00000682624.1:c.*542G>A	ENSP00000508343.1:n.*542G>A
ENST00000682700.1:c.968G>A	ENSP00000507627.1:p.Gly323Glu
ENST00000682744.1:n.506G>A
ENST00000682804.1:n.791G>A
ENST00000682837.1:c.624+225G>A	ENSP00000507920.1:n.624+225G>A
ENST00000682935.1:n.2528G>A
ENST00000682984.1:c.629G>A	ENSP00000507209.1:p.Gly210Glu
ENST00000683078.1:c.723G>A	ENSP00000506796.1:n.723G>A
ENST00000683223.1:c.710+225G>A	ENSP00000507685.1:n.710+225G>A
ENST00000683238.1:n.2349G>A
ENST00000683249.1:n.2565G>A
ENST00000683336.1:c.799+225G>A	ENSP00000507695.1:n.799+225G>A
ENST00000683362.1:c.629G>A	ENSP00000506985.1:p.Gly210Glu
ENST00000683850.1:n.891G>A
ENST00000683919.1:c.898G>A	ENSP00000507617.1:n.898G>A
ENST00000683953.1:c.879G>A	ENSP00000508375.1:n.879G>A
ENST00000684023.1:c.1102G>A	ENSP00000507461.1:n.1102G>A
ENST00000684064.1:c.659G>A	ENSP00000508192.1:p.Gly220Glu
ENST00000684089.1:n.2518G>A
ENST00000684149.1:c.*304G>A	ENSP00000507943.1:n.*304G>A
ENST00000684416.1:n.927G>A
ENST00000684540.1:c.898G>A	ENSP00000507987.1:n.898G>A
ENST00000453321.8:c.968G>A MANE Select	ENSP00000389998.3:p.Gly323Glu
ENST00000323130.7:c.938G>A	ENSP00000314488.3:p.Gly313Glu
ENST00000409623.7:c.725G>A	ENSP00000386966.3:p.Gly242Glu
ENST00000425545.2:n.415G>A
ENST00000452276.5:c.659G>A	ENSP00000388671.1:p.Gly220Glu
ENST00000453321.7:c.968G>A	ENSP00000389998.3:p.Gly323Glu
ENST00000453906.5:c.407-5251G>A	ENSP00000403035.1:n.407-5251G>A
ENST00000474944.5:n.427-5251G>A
NM_001142301.1:c.725G>A , LRG_688t2:c.725G>A	NP_001135773.1:p.Gly242Glu
NM_153704.5:c.968G>A , LRG_688t1:c.968G>A	NP_714915.3:p.Gly323Glu
NR_024522.1:n.1039G>A
XM_006716686.2:c.665G>A	XP_006716749.1:p.Gly222Glu
XM_006716687.2:c.368G>A	XP_006716750.1:p.Gly123Glu
XM_011517363.1:c.407-5251G>A	XP_011515665.1:n.407-5251G>A
XR_428387.1:n.1026G>A
XR_928360.1:n.1026G>A
XR_928361.1:n.1026G>A
XR_928362.1:n.1026G>A
XM_006716686.4:c.665G>A	XP_006716749.1:p.Gly222Glu
XM_011517363.3:c.407-5251G>A	XP_011515665.1:n.407-5251G>A
XM_024447326.1:c.314G>A	XP_024303094.1:p.Gly105Glu
XR_001745619.2:n.1009G>A
XR_428387.2:n.1009G>A
XR_928360.3:n.1009G>A
XR_928362.3:n.1009G>A
NM_153704.6:c.968G>A MANE Select	NP_714915.3:p.Gly323Glu
NR_024522.2:n.989G>A