Canonical Allele Identifier: CA114977

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 1383
• ClinVar RCV Id: RCV001197497 ; RCV003415618
• dbSNP Id: rs201893408
• ExAC: 8:94808198 T / C
• gnomAD v2: 8-94808198-T-C
• gnomAD v3: 8-93795970-T-C
• gnomAD v4: 8-93795970-T-C
• MyVariant Identifiers: chr8:g.94808198T>C (hg19) ; chr8:g.93795970T>C (hg38)
• PubMed: PMID:10508989 ; PMID:19466712 ; PMID:19508969 ; PMID:19540516 ; PMID:19574260 ; PMID:19778711 ; PMID:20232449 ; PMID:20607301 ; PMID:21866095 ; PMID:23559409 ; PMID:25729630 ; PMID:25920555 ; PMID:26035863 ; PMID:26092869 ; PMID:27336129 ; PMID:27491411

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93795970T>C , CM000670.2:g.93795970T>C	GRCh38
NC_000008.10:g.94808198T>C , CM000670.1:g.94808198T>C	GRCh37
NC_000008.9:g.94877374T>C	NCBI36
NG_009190.1:g.46127T>C , LRG_688:g.46127T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1843T>C	ENSP00000314488.4:p.Cys615Arg
ENST00000409623.8:c.1798T>C	ENSP00000386966.4:p.Cys600Arg
ENST00000452276.6:c.1843T>C	ENSP00000388671.2:p.Cys615Arg
ENST00000453906.6:c.961T>C	ENSP00000403035.2:p.Cys321Arg
ENST00000518896.2:c.109T>C	ENSP00000507992.1:p.Cys37Arg
ENST00000520680.2:c.1966T>C	ENSP00000428785.2:p.Cys656Arg
ENST00000521517.6:c.1744T>C	ENSP00000430740.2:p.Cys582Arg
ENST00000681998.1:c.1664T>C	ENSP00000506773.1:n.1664T>C
ENST00000682036.1:c.1084T>C	ENSP00000508390.1:p.Cys362Arg
ENST00000682577.1:c.1616T>C	ENSP00000506963.1:n.1616T>C
ENST00000682624.1:c.*1417T>C	ENSP00000508343.1:n.*1417T>C
ENST00000682700.1:c.1843T>C	ENSP00000507627.1:p.Cys615Arg
ENST00000682744.1:n.1381T>C
ENST00000682804.1:n.1666T>C
ENST00000682837.1:c.1332T>C	ENSP00000507920.1:n.1332T>C
ENST00000682935.1:n.3893T>C
ENST00000682984.1:c.1504T>C	ENSP00000507209.1:p.Cys502Arg
ENST00000683078.1:c.1598T>C	ENSP00000506796.1:n.1598T>C
ENST00000683223.1:c.1575T>C	ENSP00000507685.1:n.1575T>C
ENST00000683238.1:n.3067T>C
ENST00000683249.1:n.3440T>C
ENST00000683336.1:c.1664T>C	ENSP00000507695.1:n.1664T>C
ENST00000683362.1:c.1504T>C	ENSP00000506985.1:p.Cys502Arg
ENST00000683850.1:n.1766T>C
ENST00000683919.1:c.1773T>C	ENSP00000507617.1:n.1773T>C
ENST00000683953.1:c.1754T>C	ENSP00000508375.1:n.1754T>C
ENST00000684023.1:c.1820T>C	ENSP00000507461.1:n.1820T>C
ENST00000684064.1:c.1534T>C	ENSP00000508192.1:p.Cys512Arg
ENST00000684089.1:n.3393T>C
ENST00000684149.1:c.*1022T>C	ENSP00000507943.1:n.*1022T>C
ENST00000684343.1:c.40T>C	ENSP00000507591.1:p.Cys14Arg
ENST00000684416.1:n.1802T>C
ENST00000684540.1:c.1773T>C	ENSP00000507987.1:n.1773T>C
ENST00000453321.8:c.1843T>C MANE Select	ENSP00000389998.3:p.Cys615Arg
ENST00000323130.7:c.1813T>C	ENSP00000314488.3:p.Cys605Arg
ENST00000409623.7:c.1600T>C	ENSP00000386966.3:p.Cys534Arg
ENST00000453321.7:c.1843T>C	ENSP00000389998.3:p.Cys615Arg
ENST00000474944.5:n.981T>C
ENST00000519845.5:n.575T>C
ENST00000523230.5:n.378T>C
NM_001142301.1:c.1600T>C , LRG_688t2:c.1600T>C	NP_001135773.1:p.Cys534Arg
NM_153704.5:c.1843T>C , LRG_688t1:c.1843T>C	NP_714915.3:p.Cys615Arg
NR_024522.1:n.1914T>C
XM_006716686.2:c.1540T>C	XP_006716749.1:p.Cys514Arg
XM_006716687.2:c.1243T>C	XP_006716750.1:p.Cys415Arg
XM_011517363.1:c.961T>C	XP_011515665.1:p.Cys321Arg
XR_428387.1:n.1901T>C
XR_928360.1:n.1901T>C
XR_928361.1:n.1901T>C
XR_928362.1:n.1901T>C
XM_006716686.4:c.1540T>C	XP_006716749.1:p.Cys514Arg
XM_011517363.3:c.961T>C	XP_011515665.1:p.Cys321Arg
XM_024447326.1:c.1189T>C	XP_024303094.1:p.Cys397Arg
XR_001745619.2:n.1884T>C
XR_428387.2:n.1884T>C
XR_928360.3:n.1884T>C
XR_928362.3:n.1884T>C
NM_153704.6:c.1843T>C MANE Select	NP_714915.3:p.Cys615Arg
NR_024522.2:n.1864T>C