Canonical Allele Identifier: CA371685745

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2073733
• ClinVar RCV Id: RCV002972111 ; RCV003427534
• gnomAD v4: 8-93758489-G-A
• MyVariant Identifiers: chr8:g.94770717G>A (hg19) ; chr8:g.93758489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758489G>A , CM000670.2:g.93758489G>A	GRCh38
NC_000008.10:g.94770717G>A , CM000670.1:g.94770717G>A	GRCh37
NC_000008.9:g.94839893G>A	NCBI36
NG_009190.1:g.8646G>A , LRG_688:g.8646G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.319G>A	ENSP00000314488.4:p.Val107Ile
ENST00000409623.8:c.319G>A	ENSP00000386966.4:p.Val107Ile
ENST00000452276.6:c.319G>A	ENSP00000388671.2:p.Val107Ile
ENST00000453906.6:c.319G>A	ENSP00000403035.2:p.Val107Ile
ENST00000520680.2:c.319G>A	ENSP00000428785.2:p.Val107Ile
ENST00000521065.2:c.319G>A	ENSP00000427947.2:p.Val107Ile
ENST00000521517.6:c.319G>A	ENSP00000430740.2:p.Val107Ile
ENST00000681998.1:c.319G>A	ENSP00000506773.1:p.Val107Ile
ENST00000682036.1:c.319G>A	ENSP00000508390.1:p.Val107Ile
ENST00000682577.1:c.319G>A	ENSP00000506963.1:p.Val107Ile
ENST00000682624.1:c.230G>A	ENSP00000508343.1:p.Cys77Tyr
ENST00000682700.1:c.319G>A	ENSP00000507627.1:p.Val107Ile
ENST00000682804.1:n.212G>A
ENST00000682837.1:c.319G>A	ENSP00000507920.1:p.Val107Ile
ENST00000682935.1:n.319G>A
ENST00000682984.1:c.312+2623G>A	ENSP00000507209.1:n.312+2623G>A
ENST00000683078.1:c.319G>A	ENSP00000506796.1:p.Val107Ile
ENST00000683223.1:c.230G>A	ENSP00000507685.1:p.Cys77Tyr
ENST00000683238.1:n.140G>A
ENST00000683249.1:n.340G>A
ENST00000683336.1:c.319G>A	ENSP00000507695.1:p.Val107Ile
ENST00000683362.1:c.312+2623G>A	ENSP00000506985.1:n.312+2623G>A
ENST00000683850.1:n.242G>A
ENST00000683919.1:c.319G>A	ENSP00000507617.1:p.Val107Ile
ENST00000683953.1:c.230G>A	ENSP00000508375.1:p.Cys77Tyr
ENST00000684023.1:c.319G>A	ENSP00000507461.1:p.Val107Ile
ENST00000684064.1:c.10G>A	ENSP00000508192.1:p.Val4Ile
ENST00000684089.1:n.309G>A
ENST00000684149.1:c.319G>A	ENSP00000507943.1:p.Val107Ile
ENST00000684416.1:n.144G>A
ENST00000684540.1:c.319G>A	ENSP00000507987.1:p.Val107Ile
ENST00000684733.1:n.254G>A
ENST00000453321.8:c.319G>A MANE Select	ENSP00000389998.3:p.Val107Ile
ENST00000323130.7:c.289G>A	ENSP00000314488.3:p.Val97Ile
ENST00000409623.7:c.-59G>A	ENSP00000386966.3:n.-59G>A
ENST00000452276.5:c.10G>A	ENSP00000388671.1:p.Val4Ile
ENST00000453321.7:c.319G>A	ENSP00000389998.3:p.Val107Ile
ENST00000453906.5:c.319G>A	ENSP00000403035.1:p.Val107Ile
ENST00000455946.5:c.319G>A	ENSP00000416339.1:p.Val107Ile
ENST00000474944.5:n.339G>A
ENST00000475305.1:n.328G>A
ENST00000498673.5:c.-162G>A	ENSP00000430232.1:n.-162G>A
ENST00000518319.5:c.-201G>A	ENSP00000430289.1:n.-201G>A
ENST00000521065.1:c.225G>A
ENST00000521222.5:c.315G>A	ENSP00000429925.1:p.Val105=
ENST00000521517.5:c.311G>A
NM_001142301.1:c.-59G>A , LRG_688t2:c.-59G>A	NP_001135773.1:n.-59G>A
NM_153704.5:c.319G>A , LRG_688t1:c.319G>A	NP_714915.3:p.Val107Ile
NR_024522.1:n.390G>A
XM_006716686.2:c.16G>A	XP_006716749.1:p.Val6Ile
XM_011517363.1:c.319G>A	XP_011515665.1:p.Val107Ile
XR_428387.1:n.377G>A
XR_928360.1:n.377G>A
XR_928361.1:n.377G>A
XR_928362.1:n.377G>A
XM_006716686.4:c.16G>A	XP_006716749.1:p.Val6Ile
XM_011517363.3:c.319G>A	XP_011515665.1:p.Val107Ile
XM_024447326.1:c.-91G>A	XP_024303094.1:n.-91G>A
XR_001745619.2:n.360G>A
XR_428387.2:n.360G>A
XR_928360.3:n.360G>A
XR_928362.3:n.360G>A
NM_153704.6:c.319G>A MANE Select	NP_714915.3:p.Val107Ile
NR_024522.2:n.340G>A