Canonical Allele Identifier: CA242109

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93799649A>C , CM000670.2:g.93799649A>C	GRCh38
NC_000008.10:g.94811877A>C , CM000670.1:g.94811877A>C	GRCh37
NC_000008.9:g.94881053A>C	NCBI36
NG_009190.1:g.49806A>C , LRG_688:g.49806A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2132A>C MANE Select	NP_714915.3:p.Asp711Ala
ENST00000453321.8:c.2132A>C MANE Select	ENSP00000389998.3:p.Asp711Ala
NM_001142301.1:c.1889A>C , LRG_688t2:c.1889A>C	NP_001135773.1:p.Asp630Ala
NM_153704.5:c.2132A>C , LRG_688t1:c.2132A>C	NP_714915.3:p.Asp711Ala
NR_024522.1:n.2203A>C
NR_024522.2:n.2153A>C
ENST00000323130.7:c.2102A>C	ENSP00000314488.3:p.Asp701Ala
ENST00000323130.8:c.2132A>C	ENSP00000314488.4:p.Asp711Ala
ENST00000409623.7:c.1889A>C	ENSP00000386966.3:p.Asp630Ala
ENST00000409623.8:c.2087A>C	ENSP00000386966.4:p.Asp696Ala
ENST00000452276.6:c.2132A>C	ENSP00000388671.2:p.Asp711Ala
ENST00000453321.7:c.2132A>C	ENSP00000389998.3:p.Asp711Ala
ENST00000453906.6:c.1250A>C	ENSP00000403035.2:p.Asp417Ala
ENST00000474944.5:n.1270A>C
ENST00000518896.2:c.423A>C	ENSP00000507992.1:n.423A>C
ENST00000519845.5:n.864A>C
ENST00000520680.2:c.2255A>C	ENSP00000428785.2:p.Asp752Ala
ENST00000521517.6:c.2033A>C	ENSP00000430740.2:p.Asp678Ala
ENST00000681998.1:c.1953A>C	ENSP00000506773.1:n.1953A>C
ENST00000682036.1:c.1373A>C	ENSP00000508390.1:p.Asp458Ala
ENST00000682577.1:c.1905A>C	ENSP00000506963.1:n.1905A>C
ENST00000682624.1:c.*1706A>C	ENSP00000508343.1:n.*1706A>C
ENST00000682700.1:c.2132A>C	ENSP00000507627.1:p.Asp711Ala
ENST00000682744.1:n.1670A>C
ENST00000682804.1:n.1955A>C
ENST00000682837.1:c.1621A>C	ENSP00000507920.1:n.1621A>C
ENST00000682935.1:n.4182A>C
ENST00000682984.1:c.1793A>C	ENSP00000507209.1:p.Asp598Ala
ENST00000683078.1:c.1887A>C	ENSP00000506796.1:n.1887A>C
ENST00000683223.1:c.1864A>C	ENSP00000507685.1:n.1864A>C
ENST00000683238.1:n.3356A>C
ENST00000683249.1:n.3729A>C
ENST00000683336.1:c.1953A>C	ENSP00000507695.1:n.1953A>C
ENST00000683362.1:c.1793A>C	ENSP00000506985.1:p.Asp598Ala
ENST00000683850.1:n.2055A>C
ENST00000683919.1:c.2062A>C	ENSP00000507617.1:n.2062A>C
ENST00000683953.1:c.2043A>C	ENSP00000508375.1:n.2043A>C
ENST00000684023.1:c.2109A>C	ENSP00000507461.1:n.2109A>C
ENST00000684064.1:c.1823A>C	ENSP00000508192.1:p.Asp608Ala
ENST00000684089.1:n.3682A>C
ENST00000684149.1:c.*1311A>C	ENSP00000507943.1:n.*1311A>C
ENST00000684343.1:c.329A>C	ENSP00000507591.1:p.Asp110Ala
ENST00000684416.1:n.2091A>C
ENST00000684540.1:c.2062A>C	ENSP00000507987.1:n.2062A>C
XM_006716686.2:c.1829A>C	XP_006716749.1:p.Asp610Ala
XM_006716686.4:c.1829A>C	XP_006716749.1:p.Asp610Ala
XM_006716687.2:c.1532A>C	XP_006716750.1:p.Asp511Ala
XM_011517363.1:c.1250A>C	XP_011515665.1:p.Asp417Ala
XM_011517363.3:c.1250A>C	XP_011515665.1:p.Asp417Ala
XM_024447326.1:c.1478A>C	XP_024303094.1:p.Asp493Ala
XR_001745619.2:n.2173A>C
XR_428387.1:n.2190A>C
XR_428387.2:n.2173A>C
XR_928360.1:n.2190A>C
XR_928360.3:n.2173A>C
XR_928361.1:n.2190A>C
XR_928362.1:n.2190A>C
XR_928362.3:n.2173A>C