Canonical Allele Identifier: CA1803221147
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780595A= , CM000670.2:g.93780595A= GRCh38
NC_000008.10:g.94792823A= , CM000670.1:g.94792823A= GRCh37
NC_000008.9:g.94861999A= NCBI36
NG_009190.1:g.30752A= , LRG_688:g.30752A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.717A= ENSP00000314488.4:p.Val239=
ENST00000409623.8:c.717A= ENSP00000386966.4:p.Val239=
ENST00000452276.6:c.717A= ENSP00000388671.2:p.Val239=
ENST00000453906.6:c.407-5628A= ENSP00000403035.2:n.407-5628A=
ENST00000520680.2:c.717A= ENSP00000428785.2:p.Val239=
ENST00000521065.2:c.*434A= ENSP00000427947.2:n.*434A=
ENST00000521517.6:c.717A= ENSP00000430740.2:p.Val239=
ENST00000681998.1:c.647A= ENSP00000506773.1:n.647A=
ENST00000682036.1:c.407-5628A= ENSP00000508390.1:n.407-5628A=
ENST00000682577.1:c.647A= ENSP00000506963.1:n.647A=
ENST00000682624.1:c.*291A= ENSP00000508343.1:n.*291A=
ENST00000682700.1:c.717A= ENSP00000507627.1:p.Val239=
ENST00000682744.1:n.255A=
ENST00000682804.1:n.540A=
ENST00000682837.1:c.472A= ENSP00000507920.1:p.Ile158=
ENST00000682935.1:n.2277A=
ENST00000682984.1:c.378A= ENSP00000507209.1:p.Val126=
ENST00000683078.1:c.472A= ENSP00000506796.1:p.Ile158=
ENST00000683223.1:c.558A= ENSP00000507685.1:n.558A=
ENST00000683238.1:n.2098A=
ENST00000683249.1:n.2298A=
ENST00000683336.1:c.647A= ENSP00000507695.1:n.647A=
ENST00000683362.1:c.378A= ENSP00000506985.1:p.Val126=
ENST00000683850.1:n.640A=
ENST00000683919.1:c.647A= ENSP00000507617.1:n.647A=
ENST00000683953.1:c.628A= ENSP00000508375.1:n.628A=
ENST00000684023.1:c.851A= ENSP00000507461.1:n.851A=
ENST00000684064.1:c.408A= ENSP00000508192.1:p.Val136=
ENST00000684089.1:n.2267A=
ENST00000684149.1:c.*53A= ENSP00000507943.1:n.*53A=
ENST00000684416.1:n.676A=
ENST00000684540.1:c.647A= ENSP00000507987.1:n.647A=
ENST00000453321.8:c.717A= MANE Select ENSP00000389998.3:p.Val239=
ENST00000323130.7:c.687A= ENSP00000314488.3:p.Val229=
ENST00000409623.7:c.474A= ENSP00000386966.3:p.Val158=
ENST00000425545.2:n.164A=
ENST00000452276.5:c.408A= ENSP00000388671.1:p.Val136=
ENST00000453321.7:c.717A= ENSP00000389998.3:p.Val239=
ENST00000453906.5:c.407-5628A= ENSP00000403035.1:n.407-5628A=
ENST00000474944.5:n.427-5628A=
ENST00000496213.5:n.182A=
NM_001142301.1:c.474A= , LRG_688t2:c.474A= NP_001135773.1:p.Val158=
NM_153704.5:c.717A= , LRG_688t1:c.717A= NP_714915.3:p.Val239=
NR_024522.1:n.788A=
XM_006716686.2:c.414A= XP_006716749.1:p.Val138=
XM_006716687.2:c.117A= XP_006716750.1:p.Val39=
XM_011517363.1:c.407-5628A= XP_011515665.1:n.407-5628A=
XR_428387.1:n.775A=
XR_928360.1:n.775A=
XR_928361.1:n.775A=
XR_928362.1:n.775A=
XM_006716686.4:c.414A= XP_006716749.1:p.Val138=
XM_011517363.3:c.407-5628A= XP_011515665.1:n.407-5628A=
XM_024447326.1:c.63A= XP_024303094.1:p.Val21=
XR_001745619.2:n.758A=
XR_428387.2:n.758A=
XR_928360.3:n.758A=
XR_928362.3:n.758A=
NM_153704.6:c.717A= MANE Select NP_714915.3:p.Val239=
NR_024522.2:n.738A=