Canonical Allele Identifier: CA371694104

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93797457T>C , CM000670.2:g.93797457T>C	GRCh38
NC_000008.10:g.94809685T>C , CM000670.1:g.94809685T>C	GRCh37
NC_000008.9:g.94878861T>C	NCBI36
NG_009190.1:g.47614T>C , LRG_688:g.47614T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2087T>C MANE Select	NP_714915.3:p.Leu696Pro
ENST00000453321.8:c.2087T>C MANE Select	ENSP00000389998.3:p.Leu696Pro
NM_001142301.1:c.1844T>C , LRG_688t2:c.1844T>C	NP_001135773.1:p.Leu615Pro
NM_153704.5:c.2087T>C , LRG_688t1:c.2087T>C	NP_714915.3:p.Leu696Pro
NR_024522.1:n.2158T>C
NR_024522.2:n.2108T>C
ENST00000323130.7:c.2057T>C	ENSP00000314488.3:p.Leu686Pro
ENST00000323130.8:c.2087T>C	ENSP00000314488.4:p.Leu696Pro
ENST00000409623.7:c.1844T>C	ENSP00000386966.3:p.Leu615Pro
ENST00000409623.8:c.2042T>C	ENSP00000386966.4:p.Leu681Pro
ENST00000452276.6:c.2087T>C	ENSP00000388671.2:p.Leu696Pro
ENST00000453321.7:c.2087T>C	ENSP00000389998.3:p.Leu696Pro
ENST00000453906.6:c.1205T>C	ENSP00000403035.2:p.Leu402Pro
ENST00000474944.5:n.1225T>C
ENST00000518896.2:c.378T>C	ENSP00000507992.1:n.378T>C
ENST00000519845.5:n.819T>C
ENST00000520680.2:c.2210T>C	ENSP00000428785.2:p.Leu737Pro
ENST00000521517.6:c.1988T>C	ENSP00000430740.2:p.Leu663Pro
ENST00000681998.1:c.1908T>C	ENSP00000506773.1:n.1908T>C
ENST00000682036.1:c.1328T>C	ENSP00000508390.1:p.Leu443Pro
ENST00000682577.1:c.1860T>C	ENSP00000506963.1:n.1860T>C
ENST00000682624.1:c.*1661T>C	ENSP00000508343.1:n.*1661T>C
ENST00000682700.1:c.2087T>C	ENSP00000507627.1:p.Leu696Pro
ENST00000682744.1:n.1625T>C
ENST00000682804.1:n.1910T>C
ENST00000682837.1:c.1576T>C	ENSP00000507920.1:n.1576T>C
ENST00000682935.1:n.4137T>C
ENST00000682984.1:c.1748T>C	ENSP00000507209.1:p.Leu583Pro
ENST00000683078.1:c.1842T>C	ENSP00000506796.1:n.1842T>C
ENST00000683223.1:c.1819T>C	ENSP00000507685.1:n.1819T>C
ENST00000683238.1:n.3311T>C
ENST00000683249.1:n.3684T>C
ENST00000683336.1:c.1908T>C	ENSP00000507695.1:n.1908T>C
ENST00000683362.1:c.1748T>C	ENSP00000506985.1:p.Leu583Pro
ENST00000683850.1:n.2010T>C
ENST00000683919.1:c.2017T>C	ENSP00000507617.1:n.2017T>C
ENST00000683953.1:c.1998T>C	ENSP00000508375.1:n.1998T>C
ENST00000684023.1:c.2064T>C	ENSP00000507461.1:n.2064T>C
ENST00000684064.1:c.1778T>C	ENSP00000508192.1:p.Leu593Pro
ENST00000684089.1:n.3637T>C
ENST00000684149.1:c.*1266T>C	ENSP00000507943.1:n.*1266T>C
ENST00000684343.1:c.284T>C	ENSP00000507591.1:p.Leu95Pro
ENST00000684416.1:n.2046T>C
ENST00000684540.1:c.2017T>C	ENSP00000507987.1:n.2017T>C
XM_006716686.2:c.1784T>C	XP_006716749.1:p.Leu595Pro
XM_006716686.4:c.1784T>C	XP_006716749.1:p.Leu595Pro
XM_006716687.2:c.1487T>C	XP_006716750.1:p.Leu496Pro
XM_011517363.1:c.1205T>C	XP_011515665.1:p.Leu402Pro
XM_011517363.3:c.1205T>C	XP_011515665.1:p.Leu402Pro
XM_024447326.1:c.1433T>C	XP_024303094.1:p.Leu478Pro
XR_001745619.2:n.2128T>C
XR_428387.1:n.2145T>C
XR_428387.2:n.2128T>C
XR_928360.1:n.2145T>C
XR_928360.3:n.2128T>C
XR_928361.1:n.2145T>C
XR_928362.1:n.2145T>C
XR_928362.3:n.2128T>C