Canonical Allele Identifier: CA279340

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 217728
• ClinVar RCV Id: RCV000201527
• dbSNP Id: rs863225237
• gnomAD v2: 8-94794638-G-T
• gnomAD v4: 8-93782410-G-T
• MyVariant Identifiers: chr8:g.94794638G>T (hg19) ; chr8:g.93782410G>T (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93782410G>T , CM000670.2:g.93782410G>T	GRCh38
NC_000008.10:g.94794638G>T , CM000670.1:g.94794638G>T	GRCh37
NC_000008.9:g.94863814G>T	NCBI36
NG_009190.1:g.32567G>T , LRG_688:g.32567G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1081G>T	ENSP00000314488.4:p.Glu361Ter
ENST00000409623.8:c.1081G>T	ENSP00000386966.4:p.Glu361Ter
ENST00000452276.6:c.1081G>T	ENSP00000388671.2:p.Glu361Ter
ENST00000453906.6:c.407-3813G>T	ENSP00000403035.2:n.407-3813G>T
ENST00000520680.2:c.1081G>T	ENSP00000428785.2:p.Glu361Ter
ENST00000521065.2:c.*1229G>T	ENSP00000427947.2:n.*1229G>T
ENST00000521517.6:c.1081G>T	ENSP00000430740.2:p.Glu361Ter
ENST00000681998.1:c.902G>T	ENSP00000506773.1:n.902G>T
ENST00000682036.1:c.407-3813G>T	ENSP00000508390.1:n.407-3813G>T
ENST00000682577.1:c.1011G>T	ENSP00000506963.1:n.1011G>T
ENST00000682624.1:c.*655G>T	ENSP00000508343.1:n.*655G>T
ENST00000682700.1:c.1081G>T	ENSP00000507627.1:p.Glu361Ter
ENST00000682744.1:n.619G>T
ENST00000682804.1:n.904G>T
ENST00000682837.1:c.727G>T	ENSP00000507920.1:n.727G>T
ENST00000682935.1:n.2641G>T
ENST00000682984.1:c.742G>T	ENSP00000507209.1:p.Glu248Ter
ENST00000683078.1:c.836G>T	ENSP00000506796.1:n.836G>T
ENST00000683223.1:c.813G>T	ENSP00000507685.1:n.813G>T
ENST00000683238.1:n.2462G>T
ENST00000683249.1:n.2678G>T
ENST00000683336.1:c.902G>T	ENSP00000507695.1:n.902G>T
ENST00000683362.1:c.742G>T	ENSP00000506985.1:p.Glu248Ter
ENST00000683850.1:n.1004G>T
ENST00000683919.1:c.1011G>T	ENSP00000507617.1:n.1011G>T
ENST00000683953.1:c.992G>T	ENSP00000508375.1:n.992G>T
ENST00000684023.1:c.1215G>T	ENSP00000507461.1:n.1215G>T
ENST00000684064.1:c.772G>T	ENSP00000508192.1:p.Glu258Ter
ENST00000684089.1:n.2631G>T
ENST00000684149.1:c.*417G>T	ENSP00000507943.1:n.*417G>T
ENST00000684416.1:n.1040G>T
ENST00000684540.1:c.1011G>T	ENSP00000507987.1:n.1011G>T
ENST00000453321.8:c.1081G>T MANE Select	ENSP00000389998.3:p.Glu361Ter
ENST00000323130.7:c.1051G>T	ENSP00000314488.3:p.Glu351Ter
ENST00000409623.7:c.838G>T	ENSP00000386966.3:p.Glu280Ter
ENST00000425545.2:n.528G>T
ENST00000452276.5:c.772G>T	ENSP00000388671.1:p.Glu258Ter
ENST00000453321.7:c.1081G>T	ENSP00000389998.3:p.Glu361Ter
ENST00000453906.5:c.407-3813G>T	ENSP00000403035.1:n.407-3813G>T
ENST00000474944.5:n.427-3813G>T
NM_001142301.1:c.838G>T , LRG_688t2:c.838G>T	NP_001135773.1:p.Glu280Ter
NM_153704.5:c.1081G>T , LRG_688t1:c.1081G>T	NP_714915.3:p.Glu361Ter
NR_024522.1:n.1152G>T
XM_006716686.2:c.778G>T	XP_006716749.1:p.Glu260Ter
XM_006716687.2:c.481G>T	XP_006716750.1:p.Glu161Ter
XM_011517363.1:c.407-3813G>T	XP_011515665.1:n.407-3813G>T
XR_428387.1:n.1139G>T
XR_928360.1:n.1139G>T
XR_928361.1:n.1139G>T
XR_928362.1:n.1139G>T
XM_006716686.4:c.778G>T	XP_006716749.1:p.Glu260Ter
XM_011517363.3:c.407-3813G>T	XP_011515665.1:n.407-3813G>T
XM_024447326.1:c.427G>T	XP_024303094.1:p.Glu143Ter
XR_001745619.2:n.1122G>T
XR_428387.2:n.1122G>T
XR_928360.3:n.1122G>T
XR_928362.3:n.1122G>T
NM_153704.6:c.1081G>T MANE Select	NP_714915.3:p.Glu361Ter
NR_024522.2:n.1102G>T