Canonical Allele Identifier: CA371688392
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 2119606
ClinVar RCV Id: RCV003054742
gnomAD v4: 8-93780941-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780941A>G , CM000670.2:g.93780941A>G GRCh38
NC_000008.10:g.94793169A>G , CM000670.1:g.94793169A>G GRCh37
NC_000008.9:g.94862345A>G NCBI36
NG_009190.1:g.31098A>G , LRG_688:g.31098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.937A>G ENSP00000314488.4:p.Thr313Ala
ENST00000409623.8:c.937A>G ENSP00000386966.4:p.Thr313Ala
ENST00000452276.6:c.937A>G ENSP00000388671.2:p.Thr313Ala
ENST00000453906.6:c.407-5282A>G ENSP00000403035.2:n.407-5282A>G
ENST00000520680.2:c.937A>G ENSP00000428785.2:p.Thr313Ala
ENST00000521065.2:c.*654A>G ENSP00000427947.2:n.*654A>G
ENST00000521517.6:c.937A>G ENSP00000430740.2:p.Thr313Ala
ENST00000681998.1:c.799+194A>G ENSP00000506773.1:n.799+194A>G
ENST00000682036.1:c.407-5282A>G ENSP00000508390.1:n.407-5282A>G
ENST00000682577.1:c.867A>G ENSP00000506963.1:n.867A>G
ENST00000682624.1:c.*511A>G ENSP00000508343.1:n.*511A>G
ENST00000682700.1:c.937A>G ENSP00000507627.1:p.Thr313Ala
ENST00000682744.1:n.475A>G
ENST00000682804.1:n.760A>G
ENST00000682837.1:c.624+194A>G ENSP00000507920.1:n.624+194A>G
ENST00000682935.1:n.2497A>G
ENST00000682984.1:c.598A>G ENSP00000507209.1:p.Thr200Ala
ENST00000683078.1:c.692A>G ENSP00000506796.1:n.692A>G
ENST00000683223.1:c.710+194A>G ENSP00000507685.1:n.710+194A>G
ENST00000683238.1:n.2318A>G
ENST00000683249.1:n.2534A>G
ENST00000683336.1:c.799+194A>G ENSP00000507695.1:n.799+194A>G
ENST00000683362.1:c.598A>G ENSP00000506985.1:p.Thr200Ala
ENST00000683850.1:n.860A>G
ENST00000683919.1:c.867A>G ENSP00000507617.1:n.867A>G
ENST00000683953.1:c.848A>G ENSP00000508375.1:n.848A>G
ENST00000684023.1:c.1071A>G ENSP00000507461.1:n.1071A>G
ENST00000684064.1:c.628A>G ENSP00000508192.1:p.Thr210Ala
ENST00000684089.1:n.2487A>G
ENST00000684149.1:c.*273A>G ENSP00000507943.1:n.*273A>G
ENST00000684416.1:n.896A>G
ENST00000684540.1:c.867A>G ENSP00000507987.1:n.867A>G
ENST00000453321.8:c.937A>G MANE Select ENSP00000389998.3:p.Thr313Ala
ENST00000323130.7:c.907A>G ENSP00000314488.3:p.Thr303Ala
ENST00000409623.7:c.694A>G ENSP00000386966.3:p.Thr232Ala
ENST00000425545.2:n.384A>G
ENST00000452276.5:c.628A>G ENSP00000388671.1:p.Thr210Ala
ENST00000453321.7:c.937A>G ENSP00000389998.3:p.Thr313Ala
ENST00000453906.5:c.407-5282A>G ENSP00000403035.1:n.407-5282A>G
ENST00000474944.5:n.427-5282A>G
ENST00000496213.5:n.402A>G
NM_001142301.1:c.694A>G , LRG_688t2:c.694A>G NP_001135773.1:p.Thr232Ala
NM_153704.5:c.937A>G , LRG_688t1:c.937A>G NP_714915.3:p.Thr313Ala
NR_024522.1:n.1008A>G
XM_006716686.2:c.634A>G XP_006716749.1:p.Thr212Ala
XM_006716687.2:c.337A>G XP_006716750.1:p.Thr113Ala
XM_011517363.1:c.407-5282A>G XP_011515665.1:n.407-5282A>G
XR_428387.1:n.995A>G
XR_928360.1:n.995A>G
XR_928361.1:n.995A>G
XR_928362.1:n.995A>G
XM_006716686.4:c.634A>G XP_006716749.1:p.Thr212Ala
XM_011517363.3:c.407-5282A>G XP_011515665.1:n.407-5282A>G
XM_024447326.1:c.283A>G XP_024303094.1:p.Thr95Ala
XR_001745619.2:n.978A>G
XR_428387.2:n.978A>G
XR_928360.3:n.978A>G
XR_928362.3:n.978A>G
NM_153704.6:c.937A>G MANE Select NP_714915.3:p.Thr313Ala
NR_024522.2:n.958A>G