Canonical Allele Identifier: CA371699077

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808921C>T , CM000670.2:g.93808921C>T	GRCh38
NC_000008.10:g.94821149C>T , CM000670.1:g.94821149C>T	GRCh37
NC_000008.9:g.94890325C>T	NCBI36
NG_009190.1:g.59078C>T , LRG_688:g.59078C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2521C>T MANE Select	NP_714915.3:p.Gln841Ter
ENST00000453321.8:c.2521C>T MANE Select	ENSP00000389998.3:p.Gln841Ter
NM_001142301.1:c.2278C>T , LRG_688t2:c.2278C>T	NP_001135773.1:p.Gln760Ter
NM_153704.5:c.2521C>T , LRG_688t1:c.2521C>T	NP_714915.3:p.Gln841Ter
NR_024522.1:n.2592C>T
NR_024522.2:n.2542C>T
ENST00000323130.7:c.2491C>T	ENSP00000314488.3:p.Gln831Ter
ENST00000323130.8:c.2521C>T	ENSP00000314488.4:p.Gln841Ter
ENST00000409623.7:c.2278C>T	ENSP00000386966.3:p.Gln760Ter
ENST00000409623.8:c.2476C>T	ENSP00000386966.4:p.Gln826Ter
ENST00000452276.6:c.2404C>T	ENSP00000388671.2:p.Gln802Ter
ENST00000453321.7:c.2521C>T	ENSP00000389998.3:p.Gln841Ter
ENST00000453906.6:c.1639C>T	ENSP00000403035.2:p.Gln547Ter
ENST00000474944.5:n.1659C>T
ENST00000518896.2:c.812C>T	ENSP00000507992.1:n.812C>T
ENST00000519845.5:n.1253C>T
ENST00000520680.2:c.2644C>T	ENSP00000428785.2:p.Gln882Ter
ENST00000521517.6:c.2422C>T	ENSP00000430740.2:p.Gln808Ter
ENST00000681998.1:c.2342C>T	ENSP00000506773.1:n.2342C>T
ENST00000682036.1:c.1762C>T	ENSP00000508390.1:p.Gln588Ter
ENST00000682577.1:c.2294C>T	ENSP00000506963.1:n.2294C>T
ENST00000682624.1:c.*2095C>T	ENSP00000508343.1:n.*2095C>T
ENST00000682700.1:c.2521C>T	ENSP00000507627.1:p.Gln841Ter
ENST00000682744.1:n.2059C>T
ENST00000682804.1:n.2344C>T
ENST00000682837.1:c.2010C>T	ENSP00000507920.1:n.2010C>T
ENST00000682935.1:n.4571C>T
ENST00000682984.1:c.2182C>T	ENSP00000507209.1:p.Gln728Ter
ENST00000683078.1:c.2276C>T	ENSP00000506796.1:n.2276C>T
ENST00000683223.1:c.2253C>T	ENSP00000507685.1:n.2253C>T
ENST00000683238.1:n.3745C>T
ENST00000683249.1:n.4118C>T
ENST00000683336.1:c.2342C>T	ENSP00000507695.1:n.2342C>T
ENST00000683362.1:c.2182C>T	ENSP00000506985.1:p.Gln728Ter
ENST00000683850.1:n.2444C>T
ENST00000683919.1:c.2451C>T	ENSP00000507617.1:n.2451C>T
ENST00000683953.1:c.2432C>T	ENSP00000508375.1:n.2432C>T
ENST00000684023.1:c.2498C>T	ENSP00000507461.1:n.2498C>T
ENST00000684064.1:c.2212C>T	ENSP00000508192.1:p.Gln738Ter
ENST00000684089.1:n.4071C>T
ENST00000684149.1:c.*1700C>T	ENSP00000507943.1:n.*1700C>T
ENST00000684343.1:c.718C>T	ENSP00000507591.1:p.Gln240Ter
ENST00000684416.1:n.2480C>T
ENST00000684540.1:c.2451C>T	ENSP00000507987.1:n.2451C>T
XM_006716686.2:c.2218C>T	XP_006716749.1:p.Gln740Ter
XM_006716686.4:c.2218C>T	XP_006716749.1:p.Gln740Ter
XM_006716687.2:c.1921C>T	XP_006716750.1:p.Gln641Ter
XM_011517363.1:c.1639C>T	XP_011515665.1:p.Gln547Ter
XM_011517363.3:c.1639C>T	XP_011515665.1:p.Gln547Ter
XM_024447326.1:c.1867C>T	XP_024303094.1:p.Gln623Ter
XR_001745619.2:n.2562C>T
XR_428387.1:n.2579C>T
XR_428387.2:n.2562C>T
XR_928360.1:n.2579C>T
XR_928360.3:n.2562C>T
XR_928361.1:n.2579C>T
XR_928362.1:n.2579C>T
XR_928362.3:n.2562C>T