Canonical Allele Identifier: CA371690774

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93791262G>A , CM000670.2:g.93791262G>A	GRCh38
NC_000008.10:g.94803490G>A , CM000670.1:g.94803490G>A	GRCh37
NC_000008.9:g.94872666G>A	NCBI36
NG_009190.1:g.41419G>A , LRG_688:g.41419G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1519-1G>A MANE Select	NP_714915.3:n.1519-1G>A
ENST00000453321.8:c.1519-1G>A MANE Select	ENSP00000389998.3:n.1519-1G>A
NM_001142301.1:c.1276-1G>A , LRG_688t2:c.1276-1G>A	NP_001135773.1:n.1276-1G>A
NM_153704.5:c.1519-1G>A , LRG_688t1:c.1519-1G>A	NP_714915.3:n.1519-1G>A
NR_024522.1:n.1590-1G>A
NR_024522.2:n.1540-1G>A
ENST00000323130.7:c.1489-1G>A	ENSP00000314488.3:n.1489-1G>A
ENST00000323130.8:c.1519-1G>A	ENSP00000314488.4:n.1519-1G>A
ENST00000409623.7:c.1276-1G>A	ENSP00000386966.3:n.1276-1G>A
ENST00000409623.8:c.1474-1G>A	ENSP00000386966.4:n.1474-1G>A
ENST00000452276.6:c.1519-1G>A	ENSP00000388671.2:n.1519-1G>A
ENST00000453321.7:c.1519-1G>A	ENSP00000389998.3:n.1519-1G>A
ENST00000453906.6:c.637-1G>A	ENSP00000403035.2:n.637-1G>A
ENST00000474944.5:n.657-1G>A
ENST00000520680.1:c.341-1G>A
ENST00000520680.2:c.1519-1G>A	ENSP00000428785.2:n.1519-1G>A
ENST00000521517.6:c.1519-1G>A	ENSP00000430740.2:n.1519-1G>A
ENST00000523230.5:n.53G>A
ENST00000681998.1:c.1340-1G>A	ENSP00000506773.1:n.1340-1G>A
ENST00000682036.1:c.637-1G>A	ENSP00000508390.1:n.637-1G>A
ENST00000682577.1:c.1292-1G>A	ENSP00000506963.1:n.1292-1G>A
ENST00000682624.1:c.*1093-1G>A	ENSP00000508343.1:n.*1093-1G>A
ENST00000682700.1:c.1519-1G>A	ENSP00000507627.1:n.1519-1G>A
ENST00000682744.1:n.1057-1G>A
ENST00000682804.1:n.1342-1G>A
ENST00000682837.1:c.1008-1G>A	ENSP00000507920.1:n.1008-1G>A
ENST00000682935.1:n.3569-1G>A
ENST00000682984.1:c.1180-1G>A	ENSP00000507209.1:n.1180-1G>A
ENST00000683078.1:c.1274-1G>A	ENSP00000506796.1:n.1274-1G>A
ENST00000683223.1:c.1251-1G>A	ENSP00000507685.1:n.1251-1G>A
ENST00000683238.1:n.2743-1G>A
ENST00000683249.1:n.3116-1G>A
ENST00000683336.1:c.1340-1G>A	ENSP00000507695.1:n.1340-1G>A
ENST00000683362.1:c.1180-1G>A	ENSP00000506985.1:n.1180-1G>A
ENST00000683850.1:n.1442-1G>A
ENST00000683919.1:c.1449-1G>A	ENSP00000507617.1:n.1449-1G>A
ENST00000683953.1:c.1430-1G>A	ENSP00000508375.1:n.1430-1G>A
ENST00000684023.1:c.1496-1G>A	ENSP00000507461.1:n.1496-1G>A
ENST00000684064.1:c.1210-1G>A	ENSP00000508192.1:n.1210-1G>A
ENST00000684089.1:n.3069-1G>A
ENST00000684149.1:c.*698-1G>A	ENSP00000507943.1:n.*698-1G>A
ENST00000684416.1:n.1478-1G>A
ENST00000684540.1:c.1449-1G>A	ENSP00000507987.1:n.1449-1G>A
XM_006716686.2:c.1216-1G>A	XP_006716749.1:n.1216-1G>A
XM_006716686.4:c.1216-1G>A	XP_006716749.1:n.1216-1G>A
XM_006716687.2:c.919-1G>A	XP_006716750.1:n.919-1G>A
XM_011517363.1:c.637-1G>A	XP_011515665.1:n.637-1G>A
XM_011517363.3:c.637-1G>A	XP_011515665.1:n.637-1G>A
XM_024447326.1:c.865-1G>A	XP_024303094.1:n.865-1G>A
XR_001745619.2:n.1560-1G>A
XR_428387.1:n.1577-1G>A
XR_428387.2:n.1560-1G>A
XR_928360.1:n.1577-1G>A
XR_928360.3:n.1560-1G>A
XR_928361.1:n.1577-1G>A
XR_928362.1:n.1577-1G>A
XR_928362.3:n.1560-1G>A