Canonical Allele Identifier: CA4807559

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 411582
• ClinVar RCV Id: RCV000472800 ; RCV002475886 ; RCV002525618
• dbSNP Id: rs780823805
• ExAC: 8:94768006 G / A
• gnomAD v2: 8-94768006-G-A
• gnomAD v3: 8-93755778-G-A
• gnomAD v4: 8-93755778-G-A
• MyVariant Identifiers: chr8:g.94768006G>A (hg19) ; chr8:g.93755778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93755778G>A , CM000670.2:g.93755778G>A	GRCh38
NC_000008.10:g.94768006G>A , CM000670.1:g.94768006G>A	GRCh37
NC_000008.9:g.94837182G>A	NCBI36
NG_009190.1:g.5935G>A , LRG_688:g.5935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.224G>A	ENSP00000314488.4:p.Gly75Glu
ENST00000409623.8:c.224G>A	ENSP00000386966.4:p.Gly75Glu
ENST00000452276.6:c.224G>A	ENSP00000388671.2:p.Gly75Glu
ENST00000453906.6:c.224G>A	ENSP00000403035.2:p.Gly75Glu
ENST00000520680.2:c.224G>A	ENSP00000428785.2:p.Gly75Glu
ENST00000521065.2:c.224G>A	ENSP00000427947.2:p.Gly75Glu
ENST00000521517.6:c.224G>A	ENSP00000430740.2:p.Gly75Glu
ENST00000681998.1:c.224G>A	ENSP00000506773.1:p.Gly75Glu
ENST00000682036.1:c.224G>A	ENSP00000508390.1:p.Gly75Glu
ENST00000682577.1:c.224G>A	ENSP00000506963.1:p.Gly75Glu
ENST00000682624.1:c.223+641G>A	ENSP00000508343.1:n.223+641G>A
ENST00000682700.1:c.224G>A	ENSP00000507627.1:p.Gly75Glu
ENST00000682804.1:n.117G>A
ENST00000682837.1:c.224G>A	ENSP00000507920.1:p.Gly75Glu
ENST00000682935.1:n.224G>A
ENST00000682984.1:c.224G>A	ENSP00000507209.1:p.Gly75Glu
ENST00000683078.1:c.224G>A	ENSP00000506796.1:p.Gly75Glu
ENST00000683223.1:c.223+641G>A	ENSP00000507685.1:n.223+641G>A
ENST00000683238.1:n.45G>A
ENST00000683249.1:n.245G>A
ENST00000683336.1:c.224G>A	ENSP00000507695.1:p.Gly75Glu
ENST00000683362.1:c.224G>A	ENSP00000506985.1:p.Gly75Glu
ENST00000683850.1:n.147G>A
ENST00000683919.1:c.224G>A	ENSP00000507617.1:p.Gly75Glu
ENST00000683953.1:c.223+641G>A	ENSP00000508375.1:n.223+641G>A
ENST00000684023.1:c.224G>A	ENSP00000507461.1:p.Gly75Glu
ENST00000684064.1:c.-86G>A	ENSP00000508192.1:n.-86G>A
ENST00000684089.1:n.214G>A
ENST00000684149.1:c.224G>A	ENSP00000507943.1:p.Gly75Glu
ENST00000684416.1:n.141+641G>A
ENST00000684540.1:c.224G>A	ENSP00000507987.1:p.Gly75Glu
ENST00000684733.1:n.247+641G>A
ENST00000453321.8:c.224G>A MANE Select	ENSP00000389998.3:p.Gly75Glu
ENST00000323130.7:c.194G>A	ENSP00000314488.3:p.Gly65Glu
ENST00000409623.7:c.-62+641G>A	ENSP00000386966.3:n.-62+641G>A
ENST00000452276.5:c.-86G>A	ENSP00000388671.1:n.-86G>A
ENST00000453321.7:c.224G>A	ENSP00000389998.3:p.Gly75Glu
ENST00000453906.5:c.224G>A	ENSP00000403035.1:p.Gly75Glu
ENST00000455946.5:c.224G>A	ENSP00000416339.1:p.Gly75Glu
ENST00000474944.5:n.244G>A
ENST00000475305.1:n.233G>A
ENST00000481620.1:n.227G>A
ENST00000498673.5:c.-299G>A	ENSP00000430232.1:n.-299G>A
ENST00000518319.5:c.-292G>A	ENSP00000430289.1:n.-292G>A
ENST00000521065.1:c.218+641G>A
ENST00000521222.5:c.224G>A	ENSP00000429925.1:p.Gly75Glu
ENST00000521517.5:c.216G>A
NM_001142301.1:c.-62+641G>A , LRG_688t2:c.-62+641G>A	NP_001135773.1:n.-62+641G>A
NM_153704.5:c.224G>A , LRG_688t1:c.224G>A	NP_714915.3:p.Gly75Glu
NR_024522.1:n.295G>A
XM_006716686.2:c.9+641G>A	XP_006716749.1:n.9+641G>A
XM_011517363.1:c.224G>A	XP_011515665.1:p.Gly75Glu
XR_428387.1:n.282G>A
XR_928360.1:n.282G>A
XR_928361.1:n.282G>A
XR_928362.1:n.282G>A
XM_006716686.4:c.9+641G>A	XP_006716749.1:n.9+641G>A
XM_011517363.3:c.224G>A	XP_011515665.1:p.Gly75Glu
XM_024447326.1:c.-186G>A	XP_024303094.1:n.-186G>A
XR_001745619.2:n.265G>A
XR_428387.2:n.265G>A
XR_928360.3:n.265G>A
XR_928362.3:n.265G>A
NM_153704.6:c.224G>A MANE Select	NP_714915.3:p.Gly75Glu
NR_024522.2:n.245G>A