Canonical Allele Identifier: CA4807940

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786321C>T , CM000670.2:g.93786321C>T	GRCh38
NC_000008.10:g.94798549C>T , CM000670.1:g.94798549C>T	GRCh37
NC_000008.9:g.94867725C>T	NCBI36
NG_009190.1:g.36478C>T , LRG_688:g.36478C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1387C>T MANE Select	NP_714915.3:p.Arg463Ter
ENST00000453321.8:c.1387C>T MANE Select	ENSP00000389998.3:p.Arg463Ter
NM_001142301.1:c.1144C>T , LRG_688t2:c.1144C>T	NP_001135773.1:p.Arg382Ter
NM_153704.5:c.1387C>T , LRG_688t1:c.1387C>T	NP_714915.3:p.Arg463Ter
NR_024522.1:n.1458C>T
NR_024522.2:n.1408C>T
ENST00000323130.7:c.1357C>T	ENSP00000314488.3:p.Arg453Ter
ENST00000323130.8:c.1387C>T	ENSP00000314488.4:p.Arg463Ter
ENST00000409623.7:c.1144C>T	ENSP00000386966.3:p.Arg382Ter
ENST00000409623.8:c.1342C>T	ENSP00000386966.4:p.Arg448Ter
ENST00000452276.5:c.1078C>T	ENSP00000388671.1:p.Arg360Ter
ENST00000452276.6:c.1387C>T	ENSP00000388671.2:p.Arg463Ter
ENST00000453321.7:c.1387C>T	ENSP00000389998.3:p.Arg463Ter
ENST00000453906.5:c.505C>T	ENSP00000403035.1:p.Arg169Ter
ENST00000453906.6:c.505C>T	ENSP00000403035.2:p.Arg169Ter
ENST00000474944.5:n.525C>T
ENST00000520680.1:c.209C>T
ENST00000520680.2:c.1387C>T	ENSP00000428785.2:p.Arg463Ter
ENST00000521517.6:c.1387C>T	ENSP00000430740.2:p.Arg463Ter
ENST00000681998.1:c.1208C>T	ENSP00000506773.1:n.1208C>T
ENST00000682036.1:c.505C>T	ENSP00000508390.1:p.Arg169Ter
ENST00000682577.1:c.1160C>T	ENSP00000506963.1:n.1160C>T
ENST00000682624.1:c.*961C>T	ENSP00000508343.1:n.*961C>T
ENST00000682700.1:c.1387C>T	ENSP00000507627.1:p.Arg463Ter
ENST00000682744.1:n.925C>T
ENST00000682804.1:n.1210C>T
ENST00000682837.1:c.876C>T	ENSP00000507920.1:n.876C>T
ENST00000682935.1:n.3437C>T
ENST00000682984.1:c.1048C>T	ENSP00000507209.1:p.Arg350Ter
ENST00000683078.1:c.1142C>T	ENSP00000506796.1:n.1142C>T
ENST00000683223.1:c.1119C>T	ENSP00000507685.1:n.1119C>T
ENST00000683238.1:n.2611C>T
ENST00000683249.1:n.2984C>T
ENST00000683336.1:c.1208C>T	ENSP00000507695.1:n.1208C>T
ENST00000683362.1:c.1048C>T	ENSP00000506985.1:p.Arg350Ter
ENST00000683850.1:n.1310C>T
ENST00000683919.1:c.1317C>T	ENSP00000507617.1:n.1317C>T
ENST00000683953.1:c.1298C>T	ENSP00000508375.1:n.1298C>T
ENST00000684023.1:c.1364C>T	ENSP00000507461.1:n.1364C>T
ENST00000684064.1:c.1078C>T	ENSP00000508192.1:p.Arg360Ter
ENST00000684089.1:n.2937C>T
ENST00000684149.1:c.*566C>T	ENSP00000507943.1:n.*566C>T
ENST00000684416.1:n.1346C>T
ENST00000684540.1:c.1317C>T	ENSP00000507987.1:n.1317C>T
XM_006716686.2:c.1084C>T	XP_006716749.1:p.Arg362Ter
XM_006716686.4:c.1084C>T	XP_006716749.1:p.Arg362Ter
XM_006716687.2:c.787C>T	XP_006716750.1:p.Arg263Ter
XM_011517363.1:c.505C>T	XP_011515665.1:p.Arg169Ter
XM_011517363.3:c.505C>T	XP_011515665.1:p.Arg169Ter
XM_024447326.1:c.733C>T	XP_024303094.1:p.Arg245Ter
XR_001745619.2:n.1428C>T
XR_428387.1:n.1445C>T
XR_428387.2:n.1428C>T
XR_928360.1:n.1445C>T
XR_928360.3:n.1428C>T
XR_928361.1:n.1445C>T
XR_928362.1:n.1445C>T
XR_928362.3:n.1428C>T