Canonical Allele Identifier: CA461855739
Gene: TMEM67 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.94793117T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780889T>C , CM000670.2:g.93780889T>C GRCh38
NC_000008.10:g.94793117T>C , CM000670.1:g.94793117T>C GRCh37
NC_000008.9:g.94862293T>C NCBI36
NG_009190.1:g.31046T>C , LRG_688:g.31046T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.885T>C ENSP00000314488.4:p.Pro295=
ENST00000409623.8:c.885T>C ENSP00000386966.4:p.Pro295=
ENST00000452276.6:c.885T>C ENSP00000388671.2:p.Pro295=
ENST00000453906.6:c.407-5334T>C ENSP00000403035.2:n.407-5334T>C
ENST00000520680.2:c.885T>C ENSP00000428785.2:p.Pro295=
ENST00000521065.2:c.*602T>C ENSP00000427947.2:n.*602T>C
ENST00000521517.6:c.885T>C ENSP00000430740.2:p.Pro295=
ENST00000681998.1:c.799+142T>C ENSP00000506773.1:n.799+142T>C
ENST00000682036.1:c.407-5334T>C ENSP00000508390.1:n.407-5334T>C
ENST00000682577.1:c.815T>C ENSP00000506963.1:n.815T>C
ENST00000682624.1:c.*459T>C ENSP00000508343.1:n.*459T>C
ENST00000682700.1:c.885T>C ENSP00000507627.1:p.Pro295=
ENST00000682744.1:n.423T>C
ENST00000682804.1:n.708T>C
ENST00000682837.1:c.624+142T>C ENSP00000507920.1:n.624+142T>C
ENST00000682935.1:n.2445T>C
ENST00000682984.1:c.546T>C ENSP00000507209.1:p.Pro182=
ENST00000683078.1:c.640T>C ENSP00000506796.1:n.640T>C
ENST00000683223.1:c.710+142T>C ENSP00000507685.1:n.710+142T>C
ENST00000683238.1:n.2266T>C
ENST00000683249.1:n.2482T>C
ENST00000683336.1:c.799+142T>C ENSP00000507695.1:n.799+142T>C
ENST00000683362.1:c.546T>C ENSP00000506985.1:p.Pro182=
ENST00000683850.1:n.808T>C
ENST00000683919.1:c.815T>C ENSP00000507617.1:n.815T>C
ENST00000683953.1:c.796T>C ENSP00000508375.1:n.796T>C
ENST00000684023.1:c.1019T>C ENSP00000507461.1:n.1019T>C
ENST00000684064.1:c.576T>C ENSP00000508192.1:p.Pro192=
ENST00000684089.1:n.2435T>C
ENST00000684149.1:c.*221T>C ENSP00000507943.1:n.*221T>C
ENST00000684416.1:n.844T>C
ENST00000684540.1:c.815T>C ENSP00000507987.1:n.815T>C
ENST00000453321.8:c.885T>C MANE Select ENSP00000389998.3:p.Pro295=
ENST00000323130.7:c.855T>C ENSP00000314488.3:p.Pro285=
ENST00000409623.7:c.642T>C ENSP00000386966.3:p.Pro214=
ENST00000425545.2:n.332T>C
ENST00000452276.5:c.576T>C ENSP00000388671.1:p.Pro192=
ENST00000453321.7:c.885T>C ENSP00000389998.3:p.Pro295=
ENST00000453906.5:c.407-5334T>C ENSP00000403035.1:n.407-5334T>C
ENST00000474944.5:n.427-5334T>C
ENST00000496213.5:n.350T>C
NM_001142301.1:c.642T>C , LRG_688t2:c.642T>C NP_001135773.1:p.Pro214=
NM_153704.5:c.885T>C , LRG_688t1:c.885T>C NP_714915.3:p.Pro295=
NR_024522.1:n.956T>C
XM_006716686.2:c.582T>C XP_006716749.1:p.Pro194=
XM_006716687.2:c.285T>C XP_006716750.1:p.Pro95=
XM_011517363.1:c.407-5334T>C XP_011515665.1:n.407-5334T>C
XR_428387.1:n.943T>C
XR_928360.1:n.943T>C
XR_928361.1:n.943T>C
XR_928362.1:n.943T>C
XM_006716686.4:c.582T>C XP_006716749.1:p.Pro194=
XM_011517363.3:c.407-5334T>C XP_011515665.1:n.407-5334T>C
XM_024447326.1:c.231T>C XP_024303094.1:p.Pro77=
XR_001745619.2:n.926T>C
XR_428387.2:n.926T>C
XR_928360.3:n.926T>C
XR_928362.3:n.926T>C
NM_153704.6:c.885T>C MANE Select NP_714915.3:p.Pro295=
NR_024522.2:n.906T>C