Canonical Allele Identifier: CA279514

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 217716
• ClinVar RCV Id: RCV000201733
• dbSNP Id: rs863225229
• MyVariant Identifiers: chr8:g.94792836A>G (hg19) ; chr8:g.93780608A>G (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780608A>G , CM000670.2:g.93780608A>G	GRCh38
NC_000008.10:g.94792836A>G , CM000670.1:g.94792836A>G	GRCh37
NC_000008.9:g.94862012A>G	NCBI36
NG_009190.1:g.30765A>G , LRG_688:g.30765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.730A>G	ENSP00000314488.4:p.Thr244Ala
ENST00000409623.8:c.730A>G	ENSP00000386966.4:p.Thr244Ala
ENST00000452276.6:c.730A>G	ENSP00000388671.2:p.Thr244Ala
ENST00000453906.6:c.407-5615A>G	ENSP00000403035.2:n.407-5615A>G
ENST00000520680.2:c.730A>G	ENSP00000428785.2:p.Thr244Ala
ENST00000521065.2:c.*447A>G	ENSP00000427947.2:n.*447A>G
ENST00000521517.6:c.730A>G	ENSP00000430740.2:p.Thr244Ala
ENST00000681998.1:c.660A>G	ENSP00000506773.1:n.660A>G
ENST00000682036.1:c.407-5615A>G	ENSP00000508390.1:n.407-5615A>G
ENST00000682577.1:c.660A>G	ENSP00000506963.1:n.660A>G
ENST00000682624.1:c.*304A>G	ENSP00000508343.1:n.*304A>G
ENST00000682700.1:c.730A>G	ENSP00000507627.1:p.Thr244Ala
ENST00000682744.1:n.268A>G
ENST00000682804.1:n.553A>G
ENST00000682837.1:c.485A>G	ENSP00000507920.1:p.Asn162Ser
ENST00000682935.1:n.2290A>G
ENST00000682984.1:c.391A>G	ENSP00000507209.1:p.Thr131Ala
ENST00000683078.1:c.485A>G	ENSP00000506796.1:p.Asn162Ser
ENST00000683223.1:c.571A>G	ENSP00000507685.1:n.571A>G
ENST00000683238.1:n.2111A>G
ENST00000683249.1:n.2311A>G
ENST00000683336.1:c.660A>G	ENSP00000507695.1:n.660A>G
ENST00000683362.1:c.391A>G	ENSP00000506985.1:p.Thr131Ala
ENST00000683850.1:n.653A>G
ENST00000683919.1:c.660A>G	ENSP00000507617.1:n.660A>G
ENST00000683953.1:c.641A>G	ENSP00000508375.1:n.641A>G
ENST00000684023.1:c.864A>G	ENSP00000507461.1:n.864A>G
ENST00000684064.1:c.421A>G	ENSP00000508192.1:p.Thr141Ala
ENST00000684089.1:n.2280A>G
ENST00000684149.1:c.*66A>G	ENSP00000507943.1:n.*66A>G
ENST00000684416.1:n.689A>G
ENST00000684540.1:c.660A>G	ENSP00000507987.1:n.660A>G
ENST00000453321.8:c.730A>G MANE Select	ENSP00000389998.3:p.Thr244Ala
ENST00000323130.7:c.700A>G	ENSP00000314488.3:p.Thr234Ala
ENST00000409623.7:c.487A>G	ENSP00000386966.3:p.Thr163Ala
ENST00000425545.2:n.177A>G
ENST00000452276.5:c.421A>G	ENSP00000388671.1:p.Thr141Ala
ENST00000453321.7:c.730A>G	ENSP00000389998.3:p.Thr244Ala
ENST00000453906.5:c.407-5615A>G	ENSP00000403035.1:n.407-5615A>G
ENST00000474944.5:n.427-5615A>G
ENST00000496213.5:n.195A>G
NM_001142301.1:c.487A>G , LRG_688t2:c.487A>G	NP_001135773.1:p.Thr163Ala
NM_153704.5:c.730A>G , LRG_688t1:c.730A>G	NP_714915.3:p.Thr244Ala
NR_024522.1:n.801A>G
XM_006716686.2:c.427A>G	XP_006716749.1:p.Thr143Ala
XM_006716687.2:c.130A>G	XP_006716750.1:p.Thr44Ala
XM_011517363.1:c.407-5615A>G	XP_011515665.1:n.407-5615A>G
XR_428387.1:n.788A>G
XR_928360.1:n.788A>G
XR_928361.1:n.788A>G
XR_928362.1:n.788A>G
XM_006716686.4:c.427A>G	XP_006716749.1:p.Thr143Ala
XM_011517363.3:c.407-5615A>G	XP_011515665.1:n.407-5615A>G
XM_024447326.1:c.76A>G	XP_024303094.1:p.Thr26Ala
XR_001745619.2:n.771A>G
XR_428387.2:n.771A>G
XR_928360.3:n.771A>G
XR_928362.3:n.771A>G
NM_153704.6:c.730A>G MANE Select	NP_714915.3:p.Thr244Ala
NR_024522.2:n.751A>G