Canonical Allele Identifier: CA181336331

Gene: TMEM67

Linked Data

• dbSNP Id: rs867680226
• COSMIC: COSM5711051 ; COSM5711052 ; COSM5711053
• MyVariant Identifiers: chr8:g.94798534C>T (hg19) ; chr8:g.93786306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786306C>T , CM000670.2:g.93786306C>T	GRCh38
NC_000008.10:g.94798534C>T , CM000670.1:g.94798534C>T	GRCh37
NC_000008.9:g.94867710C>T	NCBI36
NG_009190.1:g.36463C>T , LRG_688:g.36463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1372C>T	ENSP00000314488.4:p.Gln458Ter
ENST00000409623.8:c.1327C>T	ENSP00000386966.4:p.Gln443Ter
ENST00000452276.6:c.1372C>T	ENSP00000388671.2:p.Gln458Ter
ENST00000453906.6:c.490C>T	ENSP00000403035.2:p.Gln164Ter
ENST00000520680.2:c.1372C>T	ENSP00000428785.2:p.Gln458Ter
ENST00000521517.6:c.1372C>T	ENSP00000430740.2:p.Gln458Ter
ENST00000681998.1:c.1193C>T	ENSP00000506773.1:n.1193C>T
ENST00000682036.1:c.490C>T	ENSP00000508390.1:p.Gln164Ter
ENST00000682577.1:c.1145C>T	ENSP00000506963.1:n.1145C>T
ENST00000682624.1:c.*946C>T	ENSP00000508343.1:n.*946C>T
ENST00000682700.1:c.1372C>T	ENSP00000507627.1:p.Gln458Ter
ENST00000682744.1:n.910C>T
ENST00000682804.1:n.1195C>T
ENST00000682837.1:c.861C>T	ENSP00000507920.1:n.861C>T
ENST00000682935.1:n.3422C>T
ENST00000682984.1:c.1033C>T	ENSP00000507209.1:p.Gln345Ter
ENST00000683078.1:c.1127C>T	ENSP00000506796.1:n.1127C>T
ENST00000683223.1:c.1104C>T	ENSP00000507685.1:n.1104C>T
ENST00000683238.1:n.2596C>T
ENST00000683249.1:n.2969C>T
ENST00000683336.1:c.1193C>T	ENSP00000507695.1:n.1193C>T
ENST00000683362.1:c.1033C>T	ENSP00000506985.1:p.Gln345Ter
ENST00000683850.1:n.1295C>T
ENST00000683919.1:c.1302C>T	ENSP00000507617.1:n.1302C>T
ENST00000683953.1:c.1283C>T	ENSP00000508375.1:n.1283C>T
ENST00000684023.1:c.1349C>T	ENSP00000507461.1:n.1349C>T
ENST00000684064.1:c.1063C>T	ENSP00000508192.1:p.Gln355Ter
ENST00000684089.1:n.2922C>T
ENST00000684149.1:c.*551C>T	ENSP00000507943.1:n.*551C>T
ENST00000684416.1:n.1331C>T
ENST00000684540.1:c.1302C>T	ENSP00000507987.1:n.1302C>T
ENST00000453321.8:c.1372C>T MANE Select	ENSP00000389998.3:p.Gln458Ter
ENST00000323130.7:c.1342C>T	ENSP00000314488.3:p.Gln448Ter
ENST00000409623.7:c.1129C>T	ENSP00000386966.3:p.Gln377Ter
ENST00000452276.5:c.1063C>T	ENSP00000388671.1:p.Gln355Ter
ENST00000453321.7:c.1372C>T	ENSP00000389998.3:p.Gln458Ter
ENST00000453906.5:c.490C>T	ENSP00000403035.1:p.Gln164Ter
ENST00000474944.5:n.510C>T
ENST00000520680.1:c.194C>T
NM_001142301.1:c.1129C>T , LRG_688t2:c.1129C>T	NP_001135773.1:p.Gln377Ter
NM_153704.5:c.1372C>T , LRG_688t1:c.1372C>T	NP_714915.3:p.Gln458Ter
NR_024522.1:n.1443C>T
XM_006716686.2:c.1069C>T	XP_006716749.1:p.Gln357Ter
XM_006716687.2:c.772C>T	XP_006716750.1:p.Gln258Ter
XM_011517363.1:c.490C>T	XP_011515665.1:p.Gln164Ter
XR_428387.1:n.1430C>T
XR_928360.1:n.1430C>T
XR_928361.1:n.1430C>T
XR_928362.1:n.1430C>T
XM_006716686.4:c.1069C>T	XP_006716749.1:p.Gln357Ter
XM_011517363.3:c.490C>T	XP_011515665.1:p.Gln164Ter
XM_024447326.1:c.718C>T	XP_024303094.1:p.Gln240Ter
XR_001745619.2:n.1413C>T
XR_428387.2:n.1413C>T
XR_928360.3:n.1413C>T
XR_928362.3:n.1413C>T
NM_153704.6:c.1372C>T MANE Select	NP_714915.3:p.Gln458Ter
NR_024522.2:n.1393C>T