Canonical Allele Identifier: CA4807766

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 1337715
• ClinVar RCV Id: RCV001820729
• dbSNP Id: rs765536334
• ExAC: 8:94792864 G / A
• gnomAD v2: 8-94792864-G-A
• gnomAD v4: 8-93780636-G-A
• MyVariant Identifiers: chr8:g.94792864G>A (hg19) ; chr8:g.93780636G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780636G>A , CM000670.2:g.93780636G>A	GRCh38
NC_000008.10:g.94792864G>A , CM000670.1:g.94792864G>A	GRCh37
NC_000008.9:g.94862040G>A	NCBI36
NG_009190.1:g.30793G>A , LRG_688:g.30793G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.758G>A	ENSP00000314488.4:p.Cys253Tyr
ENST00000409623.8:c.758G>A	ENSP00000386966.4:p.Cys253Tyr
ENST00000452276.6:c.758G>A	ENSP00000388671.2:p.Cys253Tyr
ENST00000453906.6:c.407-5587G>A	ENSP00000403035.2:n.407-5587G>A
ENST00000520680.2:c.758G>A	ENSP00000428785.2:p.Cys253Tyr
ENST00000521065.2:c.*475G>A	ENSP00000427947.2:n.*475G>A
ENST00000521517.6:c.758G>A	ENSP00000430740.2:p.Cys253Tyr
ENST00000681998.1:c.688G>A	ENSP00000506773.1:n.688G>A
ENST00000682036.1:c.407-5587G>A	ENSP00000508390.1:n.407-5587G>A
ENST00000682577.1:c.688G>A	ENSP00000506963.1:n.688G>A
ENST00000682624.1:c.*332G>A	ENSP00000508343.1:n.*332G>A
ENST00000682700.1:c.758G>A	ENSP00000507627.1:p.Cys253Tyr
ENST00000682744.1:n.296G>A
ENST00000682804.1:n.581G>A
ENST00000682837.1:c.513G>A	ENSP00000507920.1:p.Val171=
ENST00000682935.1:n.2318G>A
ENST00000682984.1:c.419G>A	ENSP00000507209.1:p.Cys140Tyr
ENST00000683078.1:c.513G>A	ENSP00000506796.1:p.Val171=
ENST00000683223.1:c.599G>A	ENSP00000507685.1:n.599G>A
ENST00000683238.1:n.2139G>A
ENST00000683249.1:n.2339G>A
ENST00000683336.1:c.688G>A	ENSP00000507695.1:n.688G>A
ENST00000683362.1:c.419G>A	ENSP00000506985.1:p.Cys140Tyr
ENST00000683850.1:n.681G>A
ENST00000683919.1:c.688G>A	ENSP00000507617.1:n.688G>A
ENST00000683953.1:c.669G>A	ENSP00000508375.1:n.669G>A
ENST00000684023.1:c.892G>A	ENSP00000507461.1:n.892G>A
ENST00000684064.1:c.449G>A	ENSP00000508192.1:p.Cys150Tyr
ENST00000684089.1:n.2308G>A
ENST00000684149.1:c.*94G>A	ENSP00000507943.1:n.*94G>A
ENST00000684416.1:n.717G>A
ENST00000684540.1:c.688G>A	ENSP00000507987.1:n.688G>A
ENST00000453321.8:c.758G>A MANE Select	ENSP00000389998.3:p.Cys253Tyr
ENST00000323130.7:c.728G>A	ENSP00000314488.3:p.Cys243Tyr
ENST00000409623.7:c.515G>A	ENSP00000386966.3:p.Cys172Tyr
ENST00000425545.2:n.205G>A
ENST00000452276.5:c.449G>A	ENSP00000388671.1:p.Cys150Tyr
ENST00000453321.7:c.758G>A	ENSP00000389998.3:p.Cys253Tyr
ENST00000453906.5:c.407-5587G>A	ENSP00000403035.1:n.407-5587G>A
ENST00000474944.5:n.427-5587G>A
ENST00000496213.5:n.223G>A
NM_001142301.1:c.515G>A , LRG_688t2:c.515G>A	NP_001135773.1:p.Cys172Tyr
NM_153704.5:c.758G>A , LRG_688t1:c.758G>A	NP_714915.3:p.Cys253Tyr
NR_024522.1:n.829G>A
XM_006716686.2:c.455G>A	XP_006716749.1:p.Cys152Tyr
XM_006716687.2:c.158G>A	XP_006716750.1:p.Cys53Tyr
XM_011517363.1:c.407-5587G>A	XP_011515665.1:n.407-5587G>A
XR_428387.1:n.816G>A
XR_928360.1:n.816G>A
XR_928361.1:n.816G>A
XR_928362.1:n.816G>A
XM_006716686.4:c.455G>A	XP_006716749.1:p.Cys152Tyr
XM_011517363.3:c.407-5587G>A	XP_011515665.1:n.407-5587G>A
XM_024447326.1:c.104G>A	XP_024303094.1:p.Cys35Tyr
XR_001745619.2:n.799G>A
XR_428387.2:n.799G>A
XR_928360.3:n.799G>A
XR_928362.3:n.799G>A
NM_153704.6:c.758G>A MANE Select	NP_714915.3:p.Cys253Tyr
NR_024522.2:n.779G>A