Canonical Allele Identifier: CA1803221261
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780633T= , CM000670.2:g.93780633T= GRCh38
NC_000008.10:g.94792861T= , CM000670.1:g.94792861T= GRCh37
NC_000008.9:g.94862037T= NCBI36
NG_009190.1:g.30790T= , LRG_688:g.30790T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.755T= ENSP00000314488.4:p.Met252=
ENST00000409623.8:c.755T= ENSP00000386966.4:p.Met252=
ENST00000452276.6:c.755T= ENSP00000388671.2:p.Met252=
ENST00000453906.6:c.407-5590T= ENSP00000403035.2:n.407-5590T=
ENST00000520680.2:c.755T= ENSP00000428785.2:p.Met252=
ENST00000521065.2:c.*472T= ENSP00000427947.2:n.*472T=
ENST00000521517.6:c.755T= ENSP00000430740.2:p.Met252=
ENST00000681998.1:c.685T= ENSP00000506773.1:n.685T=
ENST00000682036.1:c.407-5590T= ENSP00000508390.1:n.407-5590T=
ENST00000682577.1:c.685T= ENSP00000506963.1:n.685T=
ENST00000682624.1:c.*329T= ENSP00000508343.1:n.*329T=
ENST00000682700.1:c.755T= ENSP00000507627.1:p.Met252=
ENST00000682744.1:n.293T=
ENST00000682804.1:n.578T=
ENST00000682837.1:c.510T= ENSP00000507920.1:p.Tyr170=
ENST00000682935.1:n.2315T=
ENST00000682984.1:c.416T= ENSP00000507209.1:p.Met139=
ENST00000683078.1:c.510T= ENSP00000506796.1:p.Tyr170=
ENST00000683223.1:c.596T= ENSP00000507685.1:n.596T=
ENST00000683238.1:n.2136T=
ENST00000683249.1:n.2336T=
ENST00000683336.1:c.685T= ENSP00000507695.1:n.685T=
ENST00000683362.1:c.416T= ENSP00000506985.1:p.Met139=
ENST00000683850.1:n.678T=
ENST00000683919.1:c.685T= ENSP00000507617.1:n.685T=
ENST00000683953.1:c.666T= ENSP00000508375.1:n.666T=
ENST00000684023.1:c.889T= ENSP00000507461.1:n.889T=
ENST00000684064.1:c.446T= ENSP00000508192.1:p.Met149=
ENST00000684089.1:n.2305T=
ENST00000684149.1:c.*91T= ENSP00000507943.1:n.*91T=
ENST00000684416.1:n.714T=
ENST00000684540.1:c.685T= ENSP00000507987.1:n.685T=
ENST00000453321.8:c.755T= MANE Select ENSP00000389998.3:p.Met252=
ENST00000323130.7:c.725T= ENSP00000314488.3:p.Met242=
ENST00000409623.7:c.512T= ENSP00000386966.3:p.Met171=
ENST00000425545.2:n.202T=
ENST00000452276.5:c.446T= ENSP00000388671.1:p.Met149=
ENST00000453321.7:c.755T= ENSP00000389998.3:p.Met252=
ENST00000453906.5:c.407-5590T= ENSP00000403035.1:n.407-5590T=
ENST00000474944.5:n.427-5590T=
ENST00000496213.5:n.220T=
NM_001142301.1:c.512T= , LRG_688t2:c.512T= NP_001135773.1:p.Met171=
NM_153704.5:c.755T= , LRG_688t1:c.755T= NP_714915.3:p.Met252=
NR_024522.1:n.826T=
XM_006716686.2:c.452T= XP_006716749.1:p.Met151=
XM_006716687.2:c.155T= XP_006716750.1:p.Met52=
XM_011517363.1:c.407-5590T= XP_011515665.1:n.407-5590T=
XR_428387.1:n.813T=
XR_928360.1:n.813T=
XR_928361.1:n.813T=
XR_928362.1:n.813T=
XM_006716686.4:c.452T= XP_006716749.1:p.Met151=
XM_011517363.3:c.407-5590T= XP_011515665.1:n.407-5590T=
XM_024447326.1:c.101T= XP_024303094.1:p.Met34=
XR_001745619.2:n.796T=
XR_428387.2:n.796T=
XR_928360.3:n.796T=
XR_928362.3:n.796T=
NM_153704.6:c.755T= MANE Select NP_714915.3:p.Met252=
NR_024522.2:n.776T=