Canonical Allele Identifier: CA348322

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 219997
• ClinVar RCV Id: RCV000204053 ; RCV001281327
• dbSNP Id: rs138783896
• ExAC: 8:94777644 T / C
• MyVariant Identifiers: chr8:g.94777644T>C (hg19) ; chr8:g.93765416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93765416T>C , CM000670.2:g.93765416T>C	GRCh38
NC_000008.10:g.94777644T>C , CM000670.1:g.94777644T>C	GRCh37
NC_000008.9:g.94846820T>C	NCBI36
NG_009190.1:g.15573T>C , LRG_688:g.15573T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.517T>C	ENSP00000314488.4:p.Cys173Arg
ENST00000409623.8:c.517T>C	ENSP00000386966.4:p.Cys173Arg
ENST00000452276.6:c.517T>C	ENSP00000388671.2:p.Cys173Arg
ENST00000453906.6:c.406+6840T>C	ENSP00000403035.2:n.406+6840T>C
ENST00000520680.2:c.517T>C	ENSP00000428785.2:p.Cys173Arg
ENST00000521065.2:c.*234T>C	ENSP00000427947.2:n.*234T>C
ENST00000521517.6:c.517T>C	ENSP00000430740.2:p.Cys173Arg
ENST00000681998.1:c.507-156T>C	ENSP00000506773.1:n.507-156T>C
ENST00000682036.1:c.406+6840T>C	ENSP00000508390.1:n.406+6840T>C
ENST00000682577.1:c.507-156T>C	ENSP00000506963.1:n.507-156T>C
ENST00000682624.1:c.*151-156T>C	ENSP00000508343.1:n.*151-156T>C
ENST00000682700.1:c.517T>C	ENSP00000507627.1:p.Cys173Arg
ENST00000682804.1:n.400-156T>C
ENST00000682837.1:c.406+6840T>C	ENSP00000507920.1:n.406+6840T>C
ENST00000682935.1:n.1981T>C
ENST00000682984.1:c.313-7173T>C	ENSP00000507209.1:n.313-7173T>C
ENST00000683078.1:c.406+6840T>C	ENSP00000506796.1:n.406+6840T>C
ENST00000683223.1:c.418-156T>C	ENSP00000507685.1:n.418-156T>C
ENST00000683238.1:n.1802T>C
ENST00000683249.1:n.2002T>C
ENST00000683336.1:c.507-156T>C	ENSP00000507695.1:n.507-156T>C
ENST00000683362.1:c.313-7173T>C	ENSP00000506985.1:n.313-7173T>C
ENST00000683850.1:n.440T>C
ENST00000683919.1:c.507-156T>C	ENSP00000507617.1:n.507-156T>C
ENST00000683953.1:c.428T>C	ENSP00000508375.1:n.428T>C
ENST00000684023.1:c.651T>C	ENSP00000507461.1:n.651T>C
ENST00000684064.1:c.208T>C	ENSP00000508192.1:p.Cys70Arg
ENST00000684089.1:n.1971T>C
ENST00000684149.1:c.507-156T>C	ENSP00000507943.1:n.507-156T>C
ENST00000684416.1:n.476T>C
ENST00000684540.1:c.507-156T>C	ENSP00000507987.1:n.507-156T>C
ENST00000453321.8:c.517T>C MANE Select	ENSP00000389998.3:p.Cys173Arg
ENST00000323130.7:c.487T>C	ENSP00000314488.3:p.Cys163Arg
ENST00000409623.7:c.274T>C	ENSP00000386966.3:p.Cys92Arg
ENST00000452276.5:c.208T>C	ENSP00000388671.1:p.Cys70Arg
ENST00000453321.7:c.517T>C	ENSP00000389998.3:p.Cys173Arg
ENST00000453906.5:c.406+6840T>C	ENSP00000403035.1:n.406+6840T>C
ENST00000455946.5:c.*189T>C	ENSP00000416339.1:n.*189T>C
ENST00000474944.5:n.426+6840T>C
ENST00000518319.5:c.37T>C	ENSP00000430289.1:p.Cys13Arg
ENST00000521065.1:c.423T>C
ENST00000521222.5:c.*153T>C	ENSP00000429925.1:n.*153T>C
ENST00000521517.5:c.499-156T>C
NM_001142301.1:c.274T>C , LRG_688t2:c.274T>C	NP_001135773.1:p.Cys92Arg
NM_153704.5:c.517T>C , LRG_688t1:c.517T>C	NP_714915.3:p.Cys173Arg
NR_024522.1:n.588T>C
XM_006716686.2:c.214T>C	XP_006716749.1:p.Cys72Arg
XM_011517363.1:c.406+6840T>C	XP_011515665.1:n.406+6840T>C
XR_428387.1:n.575T>C
XR_928360.1:n.575T>C
XR_928361.1:n.575T>C
XR_928362.1:n.575T>C
XM_006716686.4:c.214T>C	XP_006716749.1:p.Cys72Arg
XM_011517363.3:c.406+6840T>C	XP_011515665.1:n.406+6840T>C
XM_024447326.1:c.-4+6840T>C	XP_024303094.1:n.-4+6840T>C
XR_001745619.2:n.558T>C
XR_428387.2:n.558T>C
XR_928360.3:n.558T>C
XR_928362.3:n.558T>C
NM_153704.6:c.517T>C MANE Select	NP_714915.3:p.Cys173Arg
NR_024522.2:n.538T>C