Canonical Allele Identifier: CA277789

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 216826
• ClinVar RCV Id: RCV000198666 ; RCV000201726 ; RCV000624166 ; RCV001090385 ; RCV002283466 ; RCV001814102
• dbSNP Id: rs775883520
• ExAC: 8:94792831 A / G
• gnomAD v2: 8-94792831-A-G
• gnomAD v3: 8-93780603-A-G
• gnomAD v4: 8-93780603-A-G
• MyVariant Identifiers: chr8:g.94792831A>G (hg19) ; chr8:g.93780603A>G (hg38)
• PubMed: PMID:10508989 ; PMID:19508969 ; PMID:19574260 ; PMID:19778711 ; PMID:20232449 ; PMID:23559409 ; PMID:25729630 ; PMID:25920555 ; PMID:26092869 ; PMID:27491411

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780603A>G , CM000670.2:g.93780603A>G	GRCh38
NC_000008.10:g.94792831A>G , CM000670.1:g.94792831A>G	GRCh37
NC_000008.9:g.94862007A>G	NCBI36
NG_009190.1:g.30760A>G , LRG_688:g.30760A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.725A>G	ENSP00000314488.4:p.Asn242Ser
ENST00000409623.8:c.725A>G	ENSP00000386966.4:p.Asn242Ser
ENST00000452276.6:c.725A>G	ENSP00000388671.2:p.Asn242Ser
ENST00000453906.6:c.407-5620A>G	ENSP00000403035.2:n.407-5620A>G
ENST00000520680.2:c.725A>G	ENSP00000428785.2:p.Asn242Ser
ENST00000521065.2:c.*442A>G	ENSP00000427947.2:n.*442A>G
ENST00000521517.6:c.725A>G	ENSP00000430740.2:p.Asn242Ser
ENST00000681998.1:c.655A>G	ENSP00000506773.1:n.655A>G
ENST00000682036.1:c.407-5620A>G	ENSP00000508390.1:n.407-5620A>G
ENST00000682577.1:c.655A>G	ENSP00000506963.1:n.655A>G
ENST00000682624.1:c.*299A>G	ENSP00000508343.1:n.*299A>G
ENST00000682700.1:c.725A>G	ENSP00000507627.1:p.Asn242Ser
ENST00000682744.1:n.263A>G
ENST00000682804.1:n.548A>G
ENST00000682837.1:c.480A>G	ENSP00000507920.1:p.Gln160=
ENST00000682935.1:n.2285A>G
ENST00000682984.1:c.386A>G	ENSP00000507209.1:p.Asn129Ser
ENST00000683078.1:c.480A>G	ENSP00000506796.1:p.Gln160=
ENST00000683223.1:c.566A>G	ENSP00000507685.1:n.566A>G
ENST00000683238.1:n.2106A>G
ENST00000683249.1:n.2306A>G
ENST00000683336.1:c.655A>G	ENSP00000507695.1:n.655A>G
ENST00000683362.1:c.386A>G	ENSP00000506985.1:p.Asn129Ser
ENST00000683850.1:n.648A>G
ENST00000683919.1:c.655A>G	ENSP00000507617.1:n.655A>G
ENST00000683953.1:c.636A>G	ENSP00000508375.1:n.636A>G
ENST00000684023.1:c.859A>G	ENSP00000507461.1:n.859A>G
ENST00000684064.1:c.416A>G	ENSP00000508192.1:p.Asn139Ser
ENST00000684089.1:n.2275A>G
ENST00000684149.1:c.*61A>G	ENSP00000507943.1:n.*61A>G
ENST00000684416.1:n.684A>G
ENST00000684540.1:c.655A>G	ENSP00000507987.1:n.655A>G
ENST00000453321.8:c.725A>G MANE Select	ENSP00000389998.3:p.Asn242Ser
ENST00000323130.7:c.695A>G	ENSP00000314488.3:p.Asn232Ser
ENST00000409623.7:c.482A>G	ENSP00000386966.3:p.Asn161Ser
ENST00000425545.2:n.172A>G
ENST00000452276.5:c.416A>G	ENSP00000388671.1:p.Asn139Ser
ENST00000453321.7:c.725A>G	ENSP00000389998.3:p.Asn242Ser
ENST00000453906.5:c.407-5620A>G	ENSP00000403035.1:n.407-5620A>G
ENST00000474944.5:n.427-5620A>G
ENST00000496213.5:n.190A>G
NM_001142301.1:c.482A>G , LRG_688t2:c.482A>G	NP_001135773.1:p.Asn161Ser
NM_153704.5:c.725A>G , LRG_688t1:c.725A>G	NP_714915.3:p.Asn242Ser
NR_024522.1:n.796A>G
XM_006716686.2:c.422A>G	XP_006716749.1:p.Asn141Ser
XM_006716687.2:c.125A>G	XP_006716750.1:p.Asn42Ser
XM_011517363.1:c.407-5620A>G	XP_011515665.1:n.407-5620A>G
XR_428387.1:n.783A>G
XR_928360.1:n.783A>G
XR_928361.1:n.783A>G
XR_928362.1:n.783A>G
XM_006716686.4:c.422A>G	XP_006716749.1:p.Asn141Ser
XM_011517363.3:c.407-5620A>G	XP_011515665.1:n.407-5620A>G
XM_024447326.1:c.71A>G	XP_024303094.1:p.Asn24Ser
XR_001745619.2:n.766A>G
XR_428387.2:n.766A>G
XR_928360.3:n.766A>G
XR_928362.3:n.766A>G
NM_153704.6:c.725A>G MANE Select	NP_714915.3:p.Asn242Ser
NR_024522.2:n.746A>G