Canonical Allele Identifier: CA371687836

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780659-G-T
• MyVariant Identifiers: chr8:g.94792887G>T (hg19) ; chr8:g.93780659G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780659G>T , CM000670.2:g.93780659G>T	GRCh38
NC_000008.10:g.94792887G>T , CM000670.1:g.94792887G>T	GRCh37
NC_000008.9:g.94862063G>T	NCBI36
NG_009190.1:g.30816G>T , LRG_688:g.30816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.781G>T	ENSP00000314488.4:p.Asp261Tyr
ENST00000409623.8:c.781G>T	ENSP00000386966.4:p.Asp261Tyr
ENST00000452276.6:c.781G>T	ENSP00000388671.2:p.Asp261Tyr
ENST00000453906.6:c.407-5564G>T	ENSP00000403035.2:n.407-5564G>T
ENST00000520680.2:c.781G>T	ENSP00000428785.2:p.Asp261Tyr
ENST00000521065.2:c.*498G>T	ENSP00000427947.2:n.*498G>T
ENST00000521517.6:c.781G>T	ENSP00000430740.2:p.Asp261Tyr
ENST00000681998.1:c.711G>T	ENSP00000506773.1:n.711G>T
ENST00000682036.1:c.407-5564G>T	ENSP00000508390.1:n.407-5564G>T
ENST00000682577.1:c.711G>T	ENSP00000506963.1:n.711G>T
ENST00000682624.1:c.*355G>T	ENSP00000508343.1:n.*355G>T
ENST00000682700.1:c.781G>T	ENSP00000507627.1:p.Asp261Tyr
ENST00000682744.1:n.319G>T
ENST00000682804.1:n.604G>T
ENST00000682837.1:c.536G>T	ENSP00000507920.1:p.Arg179Leu
ENST00000682935.1:n.2341G>T
ENST00000682984.1:c.442G>T	ENSP00000507209.1:p.Asp148Tyr
ENST00000683078.1:c.536G>T	ENSP00000506796.1:p.Arg179Leu
ENST00000683223.1:c.622G>T	ENSP00000507685.1:n.622G>T
ENST00000683238.1:n.2162G>T
ENST00000683249.1:n.2362G>T
ENST00000683336.1:c.711G>T	ENSP00000507695.1:n.711G>T
ENST00000683362.1:c.442G>T	ENSP00000506985.1:p.Asp148Tyr
ENST00000683850.1:n.704G>T
ENST00000683919.1:c.711G>T	ENSP00000507617.1:n.711G>T
ENST00000683953.1:c.692G>T	ENSP00000508375.1:n.692G>T
ENST00000684023.1:c.915G>T	ENSP00000507461.1:n.915G>T
ENST00000684064.1:c.472G>T	ENSP00000508192.1:p.Asp158Tyr
ENST00000684089.1:n.2331G>T
ENST00000684149.1:c.*117G>T	ENSP00000507943.1:n.*117G>T
ENST00000684416.1:n.740G>T
ENST00000684540.1:c.711G>T	ENSP00000507987.1:n.711G>T
ENST00000453321.8:c.781G>T MANE Select	ENSP00000389998.3:p.Asp261Tyr
ENST00000323130.7:c.751G>T	ENSP00000314488.3:p.Asp251Tyr
ENST00000409623.7:c.538G>T	ENSP00000386966.3:p.Asp180Tyr
ENST00000425545.2:n.228G>T
ENST00000452276.5:c.472G>T	ENSP00000388671.1:p.Asp158Tyr
ENST00000453321.7:c.781G>T	ENSP00000389998.3:p.Asp261Tyr
ENST00000453906.5:c.407-5564G>T	ENSP00000403035.1:n.407-5564G>T
ENST00000474944.5:n.427-5564G>T
ENST00000496213.5:n.246G>T
NM_001142301.1:c.538G>T , LRG_688t2:c.538G>T	NP_001135773.1:p.Asp180Tyr
NM_153704.5:c.781G>T , LRG_688t1:c.781G>T	NP_714915.3:p.Asp261Tyr
NR_024522.1:n.852G>T
XM_006716686.2:c.478G>T	XP_006716749.1:p.Asp160Tyr
XM_006716687.2:c.181G>T	XP_006716750.1:p.Asp61Tyr
XM_011517363.1:c.407-5564G>T	XP_011515665.1:n.407-5564G>T
XR_428387.1:n.839G>T
XR_928360.1:n.839G>T
XR_928361.1:n.839G>T
XR_928362.1:n.839G>T
XM_006716686.4:c.478G>T	XP_006716749.1:p.Asp160Tyr
XM_011517363.3:c.407-5564G>T	XP_011515665.1:n.407-5564G>T
XM_024447326.1:c.127G>T	XP_024303094.1:p.Asp43Tyr
XR_001745619.2:n.822G>T
XR_428387.2:n.822G>T
XR_928360.3:n.822G>T
XR_928362.3:n.822G>T
NM_153704.6:c.781G>T MANE Select	NP_714915.3:p.Asp261Tyr
NR_024522.2:n.802G>T