Canonical Allele Identifier: CA144439

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786256G>T , CM000670.2:g.93786256G>T	GRCh38
NC_000008.10:g.94798484G>T , CM000670.1:g.94798484G>T	GRCh37
NC_000008.9:g.94867660G>T	NCBI36
NG_009190.1:g.36413G>T , LRG_688:g.36413G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1322G>T MANE Select	NP_714915.3:p.Arg441Leu
ENST00000453321.8:c.1322G>T MANE Select	ENSP00000389998.3:p.Arg441Leu
NM_001142301.1:c.1079G>T , LRG_688t2:c.1079G>T	NP_001135773.1:p.Arg360Leu
NM_153704.5:c.1322G>T , LRG_688t1:c.1322G>T	NP_714915.3:p.Arg441Leu
NR_024522.1:n.1393G>T
NR_024522.2:n.1343G>T
ENST00000323130.7:c.1292G>T	ENSP00000314488.3:p.Arg431Leu
ENST00000323130.8:c.1322G>T	ENSP00000314488.4:p.Arg441Leu
ENST00000409623.7:c.1079G>T	ENSP00000386966.3:p.Arg360Leu
ENST00000409623.8:c.1289-12G>T	ENSP00000386966.4:n.1289-12G>T
ENST00000452276.5:c.1013G>T	ENSP00000388671.1:p.Arg338Leu
ENST00000452276.6:c.1322G>T	ENSP00000388671.2:p.Arg441Leu
ENST00000453321.7:c.1322G>T	ENSP00000389998.3:p.Arg441Leu
ENST00000453906.5:c.440G>T	ENSP00000403035.1:p.Arg147Leu
ENST00000453906.6:c.440G>T	ENSP00000403035.2:p.Arg147Leu
ENST00000474944.5:n.460G>T
ENST00000520680.1:c.144G>T
ENST00000520680.2:c.1322G>T	ENSP00000428785.2:p.Arg441Leu
ENST00000521517.6:c.1322G>T	ENSP00000430740.2:p.Arg441Leu
ENST00000681998.1:c.1143G>T	ENSP00000506773.1:n.1143G>T
ENST00000682036.1:c.440G>T	ENSP00000508390.1:p.Arg147Leu
ENST00000682577.1:c.1095G>T	ENSP00000506963.1:n.1095G>T
ENST00000682624.1:c.*896G>T	ENSP00000508343.1:n.*896G>T
ENST00000682700.1:c.1322G>T	ENSP00000507627.1:p.Arg441Leu
ENST00000682744.1:n.860G>T
ENST00000682804.1:n.1145G>T
ENST00000682837.1:c.811G>T	ENSP00000507920.1:n.811G>T
ENST00000682935.1:n.3372G>T
ENST00000682984.1:c.983G>T	ENSP00000507209.1:p.Arg328Leu
ENST00000683078.1:c.1077G>T	ENSP00000506796.1:n.1077G>T
ENST00000683223.1:c.1054G>T	ENSP00000507685.1:n.1054G>T
ENST00000683238.1:n.2546G>T
ENST00000683249.1:n.2919G>T
ENST00000683336.1:c.1143G>T	ENSP00000507695.1:n.1143G>T
ENST00000683362.1:c.983G>T	ENSP00000506985.1:p.Arg328Leu
ENST00000683850.1:n.1245G>T
ENST00000683919.1:c.1252G>T	ENSP00000507617.1:n.1252G>T
ENST00000683953.1:c.1233G>T	ENSP00000508375.1:n.1233G>T
ENST00000684023.1:c.1299G>T	ENSP00000507461.1:n.1299G>T
ENST00000684064.1:c.1013G>T	ENSP00000508192.1:p.Arg338Leu
ENST00000684089.1:n.2872G>T
ENST00000684149.1:c.*501G>T	ENSP00000507943.1:n.*501G>T
ENST00000684416.1:n.1281G>T
ENST00000684540.1:c.1252G>T	ENSP00000507987.1:n.1252G>T
XM_006716686.2:c.1019G>T	XP_006716749.1:p.Arg340Leu
XM_006716686.4:c.1019G>T	XP_006716749.1:p.Arg340Leu
XM_006716687.2:c.722G>T	XP_006716750.1:p.Arg241Leu
XM_011517363.1:c.440G>T	XP_011515665.1:p.Arg147Leu
XM_011517363.3:c.440G>T	XP_011515665.1:p.Arg147Leu
XM_024447326.1:c.668G>T	XP_024303094.1:p.Arg223Leu
XR_001745619.2:n.1363G>T
XR_428387.1:n.1380G>T
XR_428387.2:n.1363G>T
XR_928360.1:n.1380G>T
XR_928360.3:n.1363G>T
XR_928361.1:n.1380G>T
XR_928362.1:n.1380G>T
XR_928362.3:n.1363G>T