Canonical Allele Identifier: CA371687702

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792825A>G (hg19) ; chr8:g.93780597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780597A>G , CM000670.2:g.93780597A>G	GRCh38
NC_000008.10:g.94792825A>G , CM000670.1:g.94792825A>G	GRCh37
NC_000008.9:g.94862001A>G	NCBI36
NG_009190.1:g.30754A>G , LRG_688:g.30754A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.719A>G	ENSP00000314488.4:p.Tyr240Cys
ENST00000409623.8:c.719A>G	ENSP00000386966.4:p.Tyr240Cys
ENST00000452276.6:c.719A>G	ENSP00000388671.2:p.Tyr240Cys
ENST00000453906.6:c.407-5626A>G	ENSP00000403035.2:n.407-5626A>G
ENST00000520680.2:c.719A>G	ENSP00000428785.2:p.Tyr240Cys
ENST00000521065.2:c.*436A>G	ENSP00000427947.2:n.*436A>G
ENST00000521517.6:c.719A>G	ENSP00000430740.2:p.Tyr240Cys
ENST00000681998.1:c.649A>G	ENSP00000506773.1:n.649A>G
ENST00000682036.1:c.407-5626A>G	ENSP00000508390.1:n.407-5626A>G
ENST00000682577.1:c.649A>G	ENSP00000506963.1:n.649A>G
ENST00000682624.1:c.*293A>G	ENSP00000508343.1:n.*293A>G
ENST00000682700.1:c.719A>G	ENSP00000507627.1:p.Tyr240Cys
ENST00000682744.1:n.257A>G
ENST00000682804.1:n.542A>G
ENST00000682837.1:c.474A>G	ENSP00000507920.1:p.Ile158Met
ENST00000682935.1:n.2279A>G
ENST00000682984.1:c.380A>G	ENSP00000507209.1:p.Tyr127Cys
ENST00000683078.1:c.474A>G	ENSP00000506796.1:p.Ile158Met
ENST00000683223.1:c.560A>G	ENSP00000507685.1:n.560A>G
ENST00000683238.1:n.2100A>G
ENST00000683249.1:n.2300A>G
ENST00000683336.1:c.649A>G	ENSP00000507695.1:n.649A>G
ENST00000683362.1:c.380A>G	ENSP00000506985.1:p.Tyr127Cys
ENST00000683850.1:n.642A>G
ENST00000683919.1:c.649A>G	ENSP00000507617.1:n.649A>G
ENST00000683953.1:c.630A>G	ENSP00000508375.1:n.630A>G
ENST00000684023.1:c.853A>G	ENSP00000507461.1:n.853A>G
ENST00000684064.1:c.410A>G	ENSP00000508192.1:p.Tyr137Cys
ENST00000684089.1:n.2269A>G
ENST00000684149.1:c.*55A>G	ENSP00000507943.1:n.*55A>G
ENST00000684416.1:n.678A>G
ENST00000684540.1:c.649A>G	ENSP00000507987.1:n.649A>G
ENST00000453321.8:c.719A>G MANE Select	ENSP00000389998.3:p.Tyr240Cys
ENST00000323130.7:c.689A>G	ENSP00000314488.3:p.Tyr230Cys
ENST00000409623.7:c.476A>G	ENSP00000386966.3:p.Tyr159Cys
ENST00000425545.2:n.166A>G
ENST00000452276.5:c.410A>G	ENSP00000388671.1:p.Tyr137Cys
ENST00000453321.7:c.719A>G	ENSP00000389998.3:p.Tyr240Cys
ENST00000453906.5:c.407-5626A>G	ENSP00000403035.1:n.407-5626A>G
ENST00000474944.5:n.427-5626A>G
ENST00000496213.5:n.184A>G
NM_001142301.1:c.476A>G , LRG_688t2:c.476A>G	NP_001135773.1:p.Tyr159Cys
NM_153704.5:c.719A>G , LRG_688t1:c.719A>G	NP_714915.3:p.Tyr240Cys
NR_024522.1:n.790A>G
XM_006716686.2:c.416A>G	XP_006716749.1:p.Tyr139Cys
XM_006716687.2:c.119A>G	XP_006716750.1:p.Tyr40Cys
XM_011517363.1:c.407-5626A>G	XP_011515665.1:n.407-5626A>G
XR_428387.1:n.777A>G
XR_928360.1:n.777A>G
XR_928361.1:n.777A>G
XR_928362.1:n.777A>G
XM_006716686.4:c.416A>G	XP_006716749.1:p.Tyr139Cys
XM_011517363.3:c.407-5626A>G	XP_011515665.1:n.407-5626A>G
XM_024447326.1:c.65A>G	XP_024303094.1:p.Tyr22Cys
XR_001745619.2:n.760A>G
XR_428387.2:n.760A>G
XR_928360.3:n.760A>G
XR_928362.3:n.760A>G
NM_153704.6:c.719A>G MANE Select	NP_714915.3:p.Tyr240Cys
NR_024522.2:n.740A>G