Canonical Allele Identifier: CA371685895

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2630676
• ClinVar RCV Id: RCV004539031
• MyVariant Identifiers: chr8:g.94770782C>G (hg19) ; chr8:g.93758554C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758554C>G , CM000670.2:g.93758554C>G	GRCh38
NC_000008.10:g.94770782C>G , CM000670.1:g.94770782C>G	GRCh37
NC_000008.9:g.94839958C>G	NCBI36
NG_009190.1:g.8711C>G , LRG_688:g.8711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.384C>G	ENSP00000314488.4:p.His128Gln
ENST00000409623.8:c.384C>G	ENSP00000386966.4:p.His128Gln
ENST00000452276.6:c.384C>G	ENSP00000388671.2:p.His128Gln
ENST00000453906.6:c.384C>G	ENSP00000403035.2:p.His128Gln
ENST00000520680.2:c.384C>G	ENSP00000428785.2:p.His128Gln
ENST00000521065.2:c.384C>G	ENSP00000427947.2:p.His128Gln
ENST00000521517.6:c.384C>G	ENSP00000430740.2:p.His128Gln
ENST00000681998.1:c.384C>G	ENSP00000506773.1:p.His128Gln
ENST00000682036.1:c.384C>G	ENSP00000508390.1:p.His128Gln
ENST00000682577.1:c.384C>G	ENSP00000506963.1:p.His128Gln
ENST00000682624.1:c.*28C>G	ENSP00000508343.1:n.*28C>G
ENST00000682700.1:c.384C>G	ENSP00000507627.1:p.His128Gln
ENST00000682804.1:n.277C>G
ENST00000682837.1:c.384C>G	ENSP00000507920.1:p.His128Gln
ENST00000682935.1:n.384C>G
ENST00000682984.1:c.312+2688C>G	ENSP00000507209.1:n.312+2688C>G
ENST00000683078.1:c.384C>G	ENSP00000506796.1:p.His128Gln
ENST00000683223.1:c.295C>G	ENSP00000507685.1:n.295C>G
ENST00000683238.1:n.205C>G
ENST00000683249.1:n.405C>G
ENST00000683336.1:c.384C>G	ENSP00000507695.1:p.His128Gln
ENST00000683362.1:c.312+2688C>G	ENSP00000506985.1:n.312+2688C>G
ENST00000683850.1:n.307C>G
ENST00000683919.1:c.384C>G	ENSP00000507617.1:p.His128Gln
ENST00000683953.1:c.295C>G	ENSP00000508375.1:n.295C>G
ENST00000684023.1:c.384C>G	ENSP00000507461.1:p.His128Gln
ENST00000684064.1:c.75C>G	ENSP00000508192.1:p.His25Gln
ENST00000684089.1:n.374C>G
ENST00000684149.1:c.384C>G	ENSP00000507943.1:p.His128Gln
ENST00000684416.1:n.209C>G
ENST00000684540.1:c.384C>G	ENSP00000507987.1:p.His128Gln
ENST00000684733.1:n.319C>G
ENST00000453321.8:c.384C>G MANE Select	ENSP00000389998.3:p.His128Gln
ENST00000323130.7:c.354C>G	ENSP00000314488.3:p.His118Gln
ENST00000409623.7:c.7C>G	ENSP00000386966.3:p.Leu3Val
ENST00000452276.5:c.75C>G	ENSP00000388671.1:p.His25Gln
ENST00000453321.7:c.384C>G	ENSP00000389998.3:p.His128Gln
ENST00000453906.5:c.384C>G	ENSP00000403035.1:p.His128Gln
ENST00000455946.5:c.384C>G	ENSP00000416339.1:p.His128Gln
ENST00000474944.5:n.404C>G
ENST00000475305.1:n.393C>G
ENST00000498673.5:c.-97C>G	ENSP00000430232.1:n.-97C>G
ENST00000518319.5:c.-136C>G	ENSP00000430289.1:n.-136C>G
ENST00000521065.1:c.290C>G
ENST00000521222.5:c.*20C>G	ENSP00000429925.1:n.*20C>G
ENST00000521517.5:c.376C>G
NM_001142301.1:c.7C>G , LRG_688t2:c.7C>G	NP_001135773.1:p.Leu3Val
NM_153704.5:c.384C>G , LRG_688t1:c.384C>G	NP_714915.3:p.His128Gln
NR_024522.1:n.455C>G
XM_006716686.2:c.81C>G	XP_006716749.1:p.His27Gln
XM_011517363.1:c.384C>G	XP_011515665.1:p.His128Gln
XR_428387.1:n.442C>G
XR_928360.1:n.442C>G
XR_928361.1:n.442C>G
XR_928362.1:n.442C>G
XM_006716686.4:c.81C>G	XP_006716749.1:p.His27Gln
XM_011517363.3:c.384C>G	XP_011515665.1:p.His128Gln
XM_024447326.1:c.-26C>G	XP_024303094.1:n.-26C>G
XR_001745619.2:n.425C>G
XR_428387.2:n.425C>G
XR_928360.3:n.425C>G
XR_928362.3:n.425C>G
NM_153704.6:c.384C>G MANE Select	NP_714915.3:p.His128Gln
NR_024522.2:n.405C>G