Canonical Allele Identifier: CA461855651
Gene: TMEM67 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.94792838A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780610A>C , CM000670.2:g.93780610A>C GRCh38
NC_000008.10:g.94792838A>C , CM000670.1:g.94792838A>C GRCh37
NC_000008.9:g.94862014A>C NCBI36
NG_009190.1:g.30767A>C , LRG_688:g.30767A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.732A>C ENSP00000314488.4:p.Thr244=
ENST00000409623.8:c.732A>C ENSP00000386966.4:p.Thr244=
ENST00000452276.6:c.732A>C ENSP00000388671.2:p.Thr244=
ENST00000453906.6:c.407-5613A>C ENSP00000403035.2:n.407-5613A>C
ENST00000520680.2:c.732A>C ENSP00000428785.2:p.Thr244=
ENST00000521065.2:c.*449A>C ENSP00000427947.2:n.*449A>C
ENST00000521517.6:c.732A>C ENSP00000430740.2:p.Thr244=
ENST00000681998.1:c.662A>C ENSP00000506773.1:n.662A>C
ENST00000682036.1:c.407-5613A>C ENSP00000508390.1:n.407-5613A>C
ENST00000682577.1:c.662A>C ENSP00000506963.1:n.662A>C
ENST00000682624.1:c.*306A>C ENSP00000508343.1:n.*306A>C
ENST00000682700.1:c.732A>C ENSP00000507627.1:p.Thr244=
ENST00000682744.1:n.270A>C
ENST00000682804.1:n.555A>C
ENST00000682837.1:c.487A>C ENSP00000507920.1:p.Ile163Leu
ENST00000682935.1:n.2292A>C
ENST00000682984.1:c.393A>C ENSP00000507209.1:p.Thr131=
ENST00000683078.1:c.487A>C ENSP00000506796.1:p.Ile163Leu
ENST00000683223.1:c.573A>C ENSP00000507685.1:n.573A>C
ENST00000683238.1:n.2113A>C
ENST00000683249.1:n.2313A>C
ENST00000683336.1:c.662A>C ENSP00000507695.1:n.662A>C
ENST00000683362.1:c.393A>C ENSP00000506985.1:p.Thr131=
ENST00000683850.1:n.655A>C
ENST00000683919.1:c.662A>C ENSP00000507617.1:n.662A>C
ENST00000683953.1:c.643A>C ENSP00000508375.1:n.643A>C
ENST00000684023.1:c.866A>C ENSP00000507461.1:n.866A>C
ENST00000684064.1:c.423A>C ENSP00000508192.1:p.Thr141=
ENST00000684089.1:n.2282A>C
ENST00000684149.1:c.*68A>C ENSP00000507943.1:n.*68A>C
ENST00000684416.1:n.691A>C
ENST00000684540.1:c.662A>C ENSP00000507987.1:n.662A>C
ENST00000453321.8:c.732A>C MANE Select ENSP00000389998.3:p.Thr244=
ENST00000323130.7:c.702A>C ENSP00000314488.3:p.Thr234=
ENST00000409623.7:c.489A>C ENSP00000386966.3:p.Thr163=
ENST00000425545.2:n.179A>C
ENST00000452276.5:c.423A>C ENSP00000388671.1:p.Thr141=
ENST00000453321.7:c.732A>C ENSP00000389998.3:p.Thr244=
ENST00000453906.5:c.407-5613A>C ENSP00000403035.1:n.407-5613A>C
ENST00000474944.5:n.427-5613A>C
ENST00000496213.5:n.197A>C
NM_001142301.1:c.489A>C , LRG_688t2:c.489A>C NP_001135773.1:p.Thr163=
NM_153704.5:c.732A>C , LRG_688t1:c.732A>C NP_714915.3:p.Thr244=
NR_024522.1:n.803A>C
XM_006716686.2:c.429A>C XP_006716749.1:p.Thr143=
XM_006716687.2:c.132A>C XP_006716750.1:p.Thr44=
XM_011517363.1:c.407-5613A>C XP_011515665.1:n.407-5613A>C
XR_428387.1:n.790A>C
XR_928360.1:n.790A>C
XR_928361.1:n.790A>C
XR_928362.1:n.790A>C
XM_006716686.4:c.429A>C XP_006716749.1:p.Thr143=
XM_011517363.3:c.407-5613A>C XP_011515665.1:n.407-5613A>C
XM_024447326.1:c.78A>C XP_024303094.1:p.Thr26=
XR_001745619.2:n.773A>C
XR_428387.2:n.773A>C
XR_928360.3:n.773A>C
XR_928362.3:n.773A>C
NM_153704.6:c.732A>C MANE Select NP_714915.3:p.Thr244=
NR_024522.2:n.753A>C