Canonical Allele Identifier: CA371687385

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93772651G>A , CM000670.2:g.93772651G>A	GRCh38
NC_000008.10:g.94784879G>A , CM000670.1:g.94784879G>A	GRCh37
NC_000008.9:g.94854055G>A	NCBI36
NG_009190.1:g.22808G>A , LRG_688:g.22808G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.714G>A MANE Select	NP_714915.3:p.Trp238Ter
ENST00000453321.8:c.714G>A MANE Select	ENSP00000389998.3:p.Trp238Ter
NM_001142301.1:c.471G>A , LRG_688t2:c.471G>A	NP_001135773.1:p.Trp157Ter
NM_153704.5:c.714G>A , LRG_688t1:c.714G>A	NP_714915.3:p.Trp238Ter
NR_024522.1:n.785G>A
NR_024522.2:n.735G>A
ENST00000323130.7:c.684G>A	ENSP00000314488.3:p.Trp228Ter
ENST00000323130.8:c.714G>A	ENSP00000314488.4:p.Trp238Ter
ENST00000409623.7:c.471G>A	ENSP00000386966.3:p.Trp157Ter
ENST00000409623.8:c.714G>A	ENSP00000386966.4:p.Trp238Ter
ENST00000425545.2:n.161G>A
ENST00000452276.5:c.405G>A	ENSP00000388671.1:p.Trp135Ter
ENST00000452276.6:c.714G>A	ENSP00000388671.2:p.Trp238Ter
ENST00000453321.7:c.714G>A	ENSP00000389998.3:p.Trp238Ter
ENST00000453906.5:c.407-13572G>A	ENSP00000403035.1:n.407-13572G>A
ENST00000453906.6:c.407-13572G>A	ENSP00000403035.2:n.407-13572G>A
ENST00000474944.5:n.427-13572G>A
ENST00000496213.5:n.179G>A
ENST00000520680.2:c.714G>A	ENSP00000428785.2:p.Trp238Ter
ENST00000521065.2:c.*431G>A	ENSP00000427947.2:n.*431G>A
ENST00000521517.6:c.714G>A	ENSP00000430740.2:p.Trp238Ter
ENST00000681998.1:c.644G>A	ENSP00000506773.1:n.644G>A
ENST00000682036.1:c.407-13572G>A	ENSP00000508390.1:n.407-13572G>A
ENST00000682577.1:c.644G>A	ENSP00000506963.1:n.644G>A
ENST00000682624.1:c.*288G>A	ENSP00000508343.1:n.*288G>A
ENST00000682700.1:c.714G>A	ENSP00000507627.1:p.Trp238Ter
ENST00000682804.1:n.537G>A
ENST00000682837.1:c.469G>A	ENSP00000507920.1:p.Gly157Ser
ENST00000682935.1:n.2274G>A
ENST00000682984.1:c.375G>A	ENSP00000507209.1:p.Trp125Ter
ENST00000683078.1:c.469G>A	ENSP00000506796.1:p.Gly157Ser
ENST00000683223.1:c.555G>A	ENSP00000507685.1:n.555G>A
ENST00000683238.1:n.2095G>A
ENST00000683249.1:n.2295G>A
ENST00000683336.1:c.644G>A	ENSP00000507695.1:n.644G>A
ENST00000683362.1:c.375G>A	ENSP00000506985.1:p.Trp125Ter
ENST00000683850.1:n.637G>A
ENST00000683919.1:c.644G>A	ENSP00000507617.1:n.644G>A
ENST00000683953.1:c.625G>A	ENSP00000508375.1:n.625G>A
ENST00000684023.1:c.848G>A	ENSP00000507461.1:n.848G>A
ENST00000684064.1:c.405G>A	ENSP00000508192.1:p.Trp135Ter
ENST00000684089.1:n.2264G>A
ENST00000684149.1:c.*50G>A	ENSP00000507943.1:n.*50G>A
ENST00000684416.1:n.673G>A
ENST00000684540.1:c.644G>A	ENSP00000507987.1:n.644G>A
XM_006716686.2:c.411G>A	XP_006716749.1:p.Trp137Ter
XM_006716686.4:c.411G>A	XP_006716749.1:p.Trp137Ter
XM_006716687.2:c.114G>A	XP_006716750.1:p.Trp38Ter
XM_011517363.1:c.407-13572G>A	XP_011515665.1:n.407-13572G>A
XM_011517363.3:c.407-13572G>A	XP_011515665.1:n.407-13572G>A
XM_024447326.1:c.60G>A	XP_024303094.1:p.Trp20Ter
XR_001745619.2:n.755G>A
XR_428387.1:n.772G>A
XR_428387.2:n.755G>A
XR_928360.1:n.772G>A
XR_928360.3:n.755G>A
XR_928361.1:n.772G>A
XR_928362.1:n.772G>A
XR_928362.3:n.755G>A