Canonical Allele Identifier: CA114959
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 1369
ClinVar RCV Id: RCV000001434
dbSNP Id: rs137853106

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93782456A>C , CM000670.2:g.93782456A>C GRCh38
NC_000008.10:g.94794684A>C , CM000670.1:g.94794684A>C GRCh37
NC_000008.9:g.94863860A>C NCBI36
NG_009190.1:g.32613A>C , LRG_688:g.32613A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000323130.8:c.1127A>C ENSP00000314488.4:p.Gln376Pro
ENST00000409623.8:c.1127A>C ENSP00000386966.4:p.Gln376Pro
ENST00000452276.6:c.1127A>C ENSP00000388671.2:p.Gln376Pro
ENST00000453906.6:c.407-3767A>C ENSP00000403035.2:n.407-3767A>C
ENST00000520680.2:c.1127A>C ENSP00000428785.2:p.Gln376Pro
ENST00000521517.6:c.1127A>C ENSP00000430740.2:p.Gln376Pro
ENST00000681998.1:c.948A>C ENSP00000506773.1:n.948A>C
ENST00000682036.1:c.407-3767A>C ENSP00000508390.1:n.407-3767A>C
ENST00000682577.1:c.1057A>C ENSP00000506963.1:n.1057A>C
ENST00000682624.1:c.*701A>C ENSP00000508343.1:n.*701A>C
ENST00000682700.1:c.1127A>C ENSP00000507627.1:p.Gln376Pro
ENST00000682744.1:n.665A>C
ENST00000682804.1:n.950A>C
ENST00000682837.1:c.773A>C ENSP00000507920.1:n.773A>C
ENST00000682935.1:n.2687A>C
ENST00000682984.1:c.788A>C ENSP00000507209.1:p.Gln263Pro
ENST00000683078.1:c.882A>C ENSP00000506796.1:n.882A>C
ENST00000683223.1:c.859A>C ENSP00000507685.1:n.859A>C
ENST00000683238.1:n.2508A>C
ENST00000683249.1:n.2724A>C
ENST00000683336.1:c.948A>C ENSP00000507695.1:n.948A>C
ENST00000683362.1:c.788A>C ENSP00000506985.1:p.Gln263Pro
ENST00000683850.1:n.1050A>C
ENST00000683919.1:c.1057A>C ENSP00000507617.1:n.1057A>C
ENST00000683953.1:c.1038A>C ENSP00000508375.1:n.1038A>C
ENST00000684023.1:c.1261A>C ENSP00000507461.1:n.1261A>C
ENST00000684064.1:c.818A>C ENSP00000508192.1:p.Gln273Pro
ENST00000684089.1:n.2677A>C
ENST00000684149.1:c.*463A>C ENSP00000507943.1:n.*463A>C
ENST00000684416.1:n.1086A>C
ENST00000684540.1:c.1057A>C ENSP00000507987.1:n.1057A>C
ENST00000453321.8:c.1127A>C MANE Select ENSP00000389998.3:p.Gln376Pro
ENST00000323130.7:c.1097A>C ENSP00000314488.3:p.Gln366Pro
ENST00000409623.7:c.884A>C ENSP00000386966.3:p.Gln295Pro
ENST00000452276.5:c.818A>C ENSP00000388671.1:p.Gln273Pro
ENST00000453321.7:c.1127A>C ENSP00000389998.3:p.Gln376Pro
ENST00000453906.5:c.407-3767A>C ENSP00000403035.1:n.407-3767A>C
ENST00000474944.5:n.427-3767A>C
NM_001142301.1:c.884A>C , LRG_688t2:c.884A>C NP_001135773.1:p.Gln295Pro
NM_153704.5:c.1127A>C , LRG_688t1:c.1127A>C NP_714915.3:p.Gln376Pro
NR_024522.1:n.1198A>C
XM_006716686.2:c.824A>C XP_006716749.1:p.Gln275Pro
XM_006716687.2:c.527A>C XP_006716750.1:p.Gln176Pro
XM_011517363.1:c.407-3767A>C XP_011515665.1:n.407-3767A>C
XR_428387.1:n.1185A>C
XR_928360.1:n.1185A>C
XR_928361.1:n.1185A>C
XR_928362.1:n.1185A>C
XM_006716686.4:c.824A>C XP_006716749.1:p.Gln275Pro
XM_011517363.3:c.407-3767A>C XP_011515665.1:n.407-3767A>C
XM_024447326.1:c.473A>C XP_024303094.1:p.Gln158Pro
XR_001745619.2:n.1168A>C
XR_428387.2:n.1168A>C
XR_928360.3:n.1168A>C
XR_928362.3:n.1168A>C
NM_153704.6:c.1127A>C MANE Select NP_714915.3:p.Gln376Pro
NR_024522.2:n.1148A>C