Canonical Allele Identifier: CA371695938

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93799756C>T , CM000670.2:g.93799756C>T	GRCh38
NC_000008.10:g.94811984C>T , CM000670.1:g.94811984C>T	GRCh37
NC_000008.9:g.94881160C>T	NCBI36
NG_009190.1:g.49913C>T , LRG_688:g.49913C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2239C>T MANE Select	NP_714915.3:p.Gln747Ter
ENST00000453321.8:c.2239C>T MANE Select	ENSP00000389998.3:p.Gln747Ter
NM_001142301.1:c.1996C>T , LRG_688t2:c.1996C>T	NP_001135773.1:p.Gln666Ter
NM_153704.5:c.2239C>T , LRG_688t1:c.2239C>T	NP_714915.3:p.Gln747Ter
NR_024522.1:n.2310C>T
NR_024522.2:n.2260C>T
ENST00000323130.7:c.2209C>T	ENSP00000314488.3:p.Gln737Ter
ENST00000323130.8:c.2239C>T	ENSP00000314488.4:p.Gln747Ter
ENST00000409623.7:c.1996C>T	ENSP00000386966.3:p.Gln666Ter
ENST00000409623.8:c.2194C>T	ENSP00000386966.4:p.Gln732Ter
ENST00000452276.6:c.2239C>T	ENSP00000388671.2:p.Gln747Ter
ENST00000453321.7:c.2239C>T	ENSP00000389998.3:p.Gln747Ter
ENST00000453906.6:c.1357C>T	ENSP00000403035.2:p.Gln453Ter
ENST00000474944.5:n.1377C>T
ENST00000518896.2:c.530C>T	ENSP00000507992.1:n.530C>T
ENST00000519845.5:n.971C>T
ENST00000520680.2:c.2362C>T	ENSP00000428785.2:p.Gln788Ter
ENST00000521517.6:c.2140C>T	ENSP00000430740.2:p.Gln714Ter
ENST00000681998.1:c.2060C>T	ENSP00000506773.1:n.2060C>T
ENST00000682036.1:c.1480C>T	ENSP00000508390.1:p.Gln494Ter
ENST00000682577.1:c.2012C>T	ENSP00000506963.1:n.2012C>T
ENST00000682624.1:c.*1813C>T	ENSP00000508343.1:n.*1813C>T
ENST00000682700.1:c.2239C>T	ENSP00000507627.1:p.Gln747Ter
ENST00000682744.1:n.1777C>T
ENST00000682804.1:n.2062C>T
ENST00000682837.1:c.1728C>T	ENSP00000507920.1:n.1728C>T
ENST00000682935.1:n.4289C>T
ENST00000682984.1:c.1900C>T	ENSP00000507209.1:p.Gln634Ter
ENST00000683078.1:c.1994C>T	ENSP00000506796.1:n.1994C>T
ENST00000683223.1:c.1971C>T	ENSP00000507685.1:n.1971C>T
ENST00000683238.1:n.3463C>T
ENST00000683249.1:n.3836C>T
ENST00000683336.1:c.2060C>T	ENSP00000507695.1:n.2060C>T
ENST00000683362.1:c.1900C>T	ENSP00000506985.1:p.Gln634Ter
ENST00000683850.1:n.2162C>T
ENST00000683919.1:c.2169C>T	ENSP00000507617.1:n.2169C>T
ENST00000683953.1:c.2150C>T	ENSP00000508375.1:n.2150C>T
ENST00000684023.1:c.2216C>T	ENSP00000507461.1:n.2216C>T
ENST00000684064.1:c.1930C>T	ENSP00000508192.1:p.Gln644Ter
ENST00000684089.1:n.3789C>T
ENST00000684149.1:c.*1418C>T	ENSP00000507943.1:n.*1418C>T
ENST00000684343.1:c.436C>T	ENSP00000507591.1:p.Gln146Ter
ENST00000684416.1:n.2198C>T
ENST00000684540.1:c.2169C>T	ENSP00000507987.1:n.2169C>T
XM_006716686.2:c.1936C>T	XP_006716749.1:p.Gln646Ter
XM_006716686.4:c.1936C>T	XP_006716749.1:p.Gln646Ter
XM_006716687.2:c.1639C>T	XP_006716750.1:p.Gln547Ter
XM_011517363.1:c.1357C>T	XP_011515665.1:p.Gln453Ter
XM_011517363.3:c.1357C>T	XP_011515665.1:p.Gln453Ter
XM_024447326.1:c.1585C>T	XP_024303094.1:p.Gln529Ter
XR_001745619.2:n.2280C>T
XR_428387.1:n.2297C>T
XR_428387.2:n.2280C>T
XR_928360.1:n.2297C>T
XR_928360.3:n.2280C>T
XR_928361.1:n.2297C>T
XR_928362.1:n.2297C>T
XR_928362.3:n.2280C>T