Canonical Allele Identifier: CA371699017

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821123A>C (hg19) ; chr8:g.93808895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808895A>C , CM000670.2:g.93808895A>C	GRCh38
NC_000008.10:g.94821123A>C , CM000670.1:g.94821123A>C	GRCh37
NC_000008.9:g.94890299A>C	NCBI36
NG_009190.1:g.59052A>C , LRG_688:g.59052A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2495A>C	ENSP00000314488.4:p.Glu832Ala
ENST00000409623.8:c.2450A>C	ENSP00000386966.4:p.Glu817Ala
ENST00000452276.6:c.2378A>C	ENSP00000388671.2:p.Glu793Ala
ENST00000453906.6:c.1613A>C	ENSP00000403035.2:p.Glu538Ala
ENST00000518896.2:c.786A>C	ENSP00000507992.1:n.786A>C
ENST00000520680.2:c.2618A>C	ENSP00000428785.2:p.Glu873Ala
ENST00000521517.6:c.2396A>C	ENSP00000430740.2:p.Glu799Ala
ENST00000681998.1:c.2316A>C	ENSP00000506773.1:n.2316A>C
ENST00000682036.1:c.1736A>C	ENSP00000508390.1:p.Glu579Ala
ENST00000682577.1:c.2268A>C	ENSP00000506963.1:n.2268A>C
ENST00000682624.1:c.*2069A>C	ENSP00000508343.1:n.*2069A>C
ENST00000682700.1:c.2495A>C	ENSP00000507627.1:p.Glu832Ala
ENST00000682744.1:n.2033A>C
ENST00000682804.1:n.2318A>C
ENST00000682837.1:c.1984A>C	ENSP00000507920.1:n.1984A>C
ENST00000682935.1:n.4545A>C
ENST00000682984.1:c.2156A>C	ENSP00000507209.1:p.Glu719Ala
ENST00000683078.1:c.2250A>C	ENSP00000506796.1:n.2250A>C
ENST00000683223.1:c.2227A>C	ENSP00000507685.1:n.2227A>C
ENST00000683238.1:n.3719A>C
ENST00000683249.1:n.4092A>C
ENST00000683336.1:c.2316A>C	ENSP00000507695.1:n.2316A>C
ENST00000683362.1:c.2156A>C	ENSP00000506985.1:p.Glu719Ala
ENST00000683850.1:n.2418A>C
ENST00000683919.1:c.2425A>C	ENSP00000507617.1:n.2425A>C
ENST00000683953.1:c.2406A>C	ENSP00000508375.1:n.2406A>C
ENST00000684023.1:c.2472A>C	ENSP00000507461.1:n.2472A>C
ENST00000684064.1:c.2186A>C	ENSP00000508192.1:p.Glu729Ala
ENST00000684089.1:n.4045A>C
ENST00000684149.1:c.*1674A>C	ENSP00000507943.1:n.*1674A>C
ENST00000684343.1:c.692A>C	ENSP00000507591.1:p.Glu231Ala
ENST00000684416.1:n.2454A>C
ENST00000684540.1:c.2425A>C	ENSP00000507987.1:n.2425A>C
ENST00000453321.8:c.2495A>C MANE Select	ENSP00000389998.3:p.Glu832Ala
ENST00000323130.7:c.2465A>C	ENSP00000314488.3:p.Glu822Ala
ENST00000409623.7:c.2252A>C	ENSP00000386966.3:p.Glu751Ala
ENST00000453321.7:c.2495A>C	ENSP00000389998.3:p.Glu832Ala
ENST00000474944.5:n.1633A>C
ENST00000519845.5:n.1227A>C
NM_001142301.1:c.2252A>C , LRG_688t2:c.2252A>C	NP_001135773.1:p.Glu751Ala
NM_153704.5:c.2495A>C , LRG_688t1:c.2495A>C	NP_714915.3:p.Glu832Ala
NR_024522.1:n.2566A>C
XM_006716686.2:c.2192A>C	XP_006716749.1:p.Glu731Ala
XM_006716687.2:c.1895A>C	XP_006716750.1:p.Glu632Ala
XM_011517363.1:c.1613A>C	XP_011515665.1:p.Glu538Ala
XR_428387.1:n.2553A>C
XR_928360.1:n.2553A>C
XR_928361.1:n.2553A>C
XR_928362.1:n.2553A>C
XM_006716686.4:c.2192A>C	XP_006716749.1:p.Glu731Ala
XM_011517363.3:c.1613A>C	XP_011515665.1:p.Glu538Ala
XM_024447326.1:c.1841A>C	XP_024303094.1:p.Glu614Ala
XR_001745619.2:n.2536A>C
XR_428387.2:n.2536A>C
XR_928360.3:n.2536A>C
XR_928362.3:n.2536A>C
NM_153704.6:c.2495A>C MANE Select	NP_714915.3:p.Glu832Ala
NR_024522.2:n.2516A>C