Canonical Allele Identifier: CA371685538
Community Standard Title: NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93755787G>A , CM000670.2:g.93755787G>A GRCh38
NC_000008.10:g.94768015G>A , CM000670.1:g.94768015G>A GRCh37
NC_000008.9:g.94837191G>A NCBI36
NG_009190.1:g.5944G>A , LRG_688:g.5944G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.233G>A MANE Select NP_714915.3:p.Cys78Tyr
ENST00000453321.8:c.233G>A MANE Select ENSP00000389998.3:p.Cys78Tyr
NM_001142301.1:c.-62+650G>A , LRG_688t2:c.-62+650G>A NP_001135773.1:n.-62+650G>A
NM_153704.5:c.233G>A , LRG_688t1:c.233G>A NP_714915.3:p.Cys78Tyr
NR_024522.1:n.304G>A
NR_024522.2:n.254G>A
ENST00000323130.7:c.203G>A ENSP00000314488.3:p.Cys68Tyr
ENST00000323130.8:c.233G>A ENSP00000314488.4:p.Cys78Tyr
ENST00000409623.7:c.-62+650G>A ENSP00000386966.3:n.-62+650G>A
ENST00000409623.8:c.233G>A ENSP00000386966.4:p.Cys78Tyr
ENST00000452276.5:c.-77G>A ENSP00000388671.1:n.-77G>A
ENST00000452276.6:c.233G>A ENSP00000388671.2:p.Cys78Tyr
ENST00000453321.7:c.233G>A ENSP00000389998.3:p.Cys78Tyr
ENST00000453906.5:c.233G>A ENSP00000403035.1:p.Cys78Tyr
ENST00000453906.6:c.233G>A ENSP00000403035.2:p.Cys78Tyr
ENST00000455946.5:c.233G>A ENSP00000416339.1:p.Cys78Tyr
ENST00000474944.5:n.253G>A
ENST00000475305.1:n.242G>A
ENST00000481620.1:n.236G>A
ENST00000498673.5:c.-290G>A ENSP00000430232.1:n.-290G>A
ENST00000518319.5:c.-283G>A ENSP00000430289.1:n.-283G>A
ENST00000520680.2:c.233G>A ENSP00000428785.2:p.Cys78Tyr
ENST00000521065.1:c.218+650G>A
ENST00000521065.2:c.233G>A ENSP00000427947.2:p.Cys78Tyr
ENST00000521222.5:c.233G>A ENSP00000429925.1:p.Cys78Tyr
ENST00000521517.5:c.225G>A
ENST00000521517.6:c.233G>A ENSP00000430740.2:p.Cys78Tyr
ENST00000681998.1:c.233G>A ENSP00000506773.1:p.Cys78Tyr
ENST00000682036.1:c.233G>A ENSP00000508390.1:p.Cys78Tyr
ENST00000682577.1:c.233G>A ENSP00000506963.1:p.Cys78Tyr
ENST00000682624.1:c.223+650G>A ENSP00000508343.1:n.223+650G>A
ENST00000682700.1:c.233G>A ENSP00000507627.1:p.Cys78Tyr
ENST00000682804.1:n.126G>A
ENST00000682837.1:c.233G>A ENSP00000507920.1:p.Cys78Tyr
ENST00000682935.1:n.233G>A
ENST00000682984.1:c.233G>A ENSP00000507209.1:p.Cys78Tyr
ENST00000683078.1:c.233G>A ENSP00000506796.1:p.Cys78Tyr
ENST00000683223.1:c.223+650G>A ENSP00000507685.1:n.223+650G>A
ENST00000683238.1:n.54G>A
ENST00000683249.1:n.254G>A
ENST00000683336.1:c.233G>A ENSP00000507695.1:p.Cys78Tyr
ENST00000683362.1:c.233G>A ENSP00000506985.1:p.Cys78Tyr
ENST00000683850.1:n.156G>A
ENST00000683919.1:c.233G>A ENSP00000507617.1:p.Cys78Tyr
ENST00000683953.1:c.223+650G>A ENSP00000508375.1:n.223+650G>A
ENST00000684023.1:c.233G>A ENSP00000507461.1:p.Cys78Tyr
ENST00000684064.1:c.-77G>A ENSP00000508192.1:n.-77G>A
ENST00000684089.1:n.223G>A
ENST00000684149.1:c.233G>A ENSP00000507943.1:p.Cys78Tyr
ENST00000684416.1:n.141+650G>A
ENST00000684540.1:c.233G>A ENSP00000507987.1:p.Cys78Tyr
ENST00000684733.1:n.247+650G>A
XM_006716686.2:c.9+650G>A XP_006716749.1:n.9+650G>A
XM_006716686.4:c.9+650G>A XP_006716749.1:n.9+650G>A
XM_011517363.1:c.233G>A XP_011515665.1:p.Cys78Tyr
XM_011517363.3:c.233G>A XP_011515665.1:p.Cys78Tyr
XM_024447326.1:c.-177G>A XP_024303094.1:n.-177G>A
XR_001745619.2:n.274G>A
XR_428387.1:n.291G>A
XR_428387.2:n.274G>A
XR_928360.1:n.291G>A
XR_928360.3:n.274G>A
XR_928361.1:n.291G>A
XR_928362.1:n.291G>A
XR_928362.3:n.274G>A