Canonical Allele Identifier: CA371698879

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821080A>C (hg19) ; chr8:g.93808852A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808852A>C , CM000670.2:g.93808852A>C	GRCh38
NC_000008.10:g.94821080A>C , CM000670.1:g.94821080A>C	GRCh37
NC_000008.9:g.94890256A>C	NCBI36
NG_009190.1:g.59009A>C , LRG_688:g.59009A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2452A>C	ENSP00000314488.4:p.Ser818Arg
ENST00000409623.8:c.2407A>C	ENSP00000386966.4:p.Ser803Arg
ENST00000452276.6:c.2335A>C	ENSP00000388671.2:p.Ser779Arg
ENST00000453906.6:c.1570A>C	ENSP00000403035.2:p.Ser524Arg
ENST00000518896.2:c.743A>C	ENSP00000507992.1:n.743A>C
ENST00000520680.2:c.2575A>C	ENSP00000428785.2:p.Ser859Arg
ENST00000521517.6:c.2353A>C	ENSP00000430740.2:p.Ser785Arg
ENST00000681998.1:c.2273A>C	ENSP00000506773.1:n.2273A>C
ENST00000682036.1:c.1693A>C	ENSP00000508390.1:p.Ser565Arg
ENST00000682577.1:c.2225A>C	ENSP00000506963.1:n.2225A>C
ENST00000682624.1:c.*2026A>C	ENSP00000508343.1:n.*2026A>C
ENST00000682700.1:c.2452A>C	ENSP00000507627.1:p.Ser818Arg
ENST00000682744.1:n.1990A>C
ENST00000682804.1:n.2275A>C
ENST00000682837.1:c.1941A>C	ENSP00000507920.1:n.1941A>C
ENST00000682935.1:n.4502A>C
ENST00000682984.1:c.2113A>C	ENSP00000507209.1:p.Ser705Arg
ENST00000683078.1:c.2207A>C	ENSP00000506796.1:n.2207A>C
ENST00000683223.1:c.2184A>C	ENSP00000507685.1:n.2184A>C
ENST00000683238.1:n.3676A>C
ENST00000683249.1:n.4049A>C
ENST00000683336.1:c.2273A>C	ENSP00000507695.1:n.2273A>C
ENST00000683362.1:c.2113A>C	ENSP00000506985.1:p.Ser705Arg
ENST00000683850.1:n.2375A>C
ENST00000683919.1:c.2382A>C	ENSP00000507617.1:n.2382A>C
ENST00000683953.1:c.2363A>C	ENSP00000508375.1:n.2363A>C
ENST00000684023.1:c.2429A>C	ENSP00000507461.1:n.2429A>C
ENST00000684064.1:c.2143A>C	ENSP00000508192.1:p.Ser715Arg
ENST00000684089.1:n.4002A>C
ENST00000684149.1:c.*1631A>C	ENSP00000507943.1:n.*1631A>C
ENST00000684343.1:c.649A>C	ENSP00000507591.1:p.Ser217Arg
ENST00000684416.1:n.2411A>C
ENST00000684540.1:c.2382A>C	ENSP00000507987.1:n.2382A>C
ENST00000453321.8:c.2452A>C MANE Select	ENSP00000389998.3:p.Ser818Arg
ENST00000323130.7:c.2422A>C	ENSP00000314488.3:p.Ser808Arg
ENST00000409623.7:c.2209A>C	ENSP00000386966.3:p.Ser737Arg
ENST00000453321.7:c.2452A>C	ENSP00000389998.3:p.Ser818Arg
ENST00000474944.5:n.1590A>C
ENST00000519845.5:n.1184A>C
NM_001142301.1:c.2209A>C , LRG_688t2:c.2209A>C	NP_001135773.1:p.Ser737Arg
NM_153704.5:c.2452A>C , LRG_688t1:c.2452A>C	NP_714915.3:p.Ser818Arg
NR_024522.1:n.2523A>C
XM_006716686.2:c.2149A>C	XP_006716749.1:p.Ser717Arg
XM_006716687.2:c.1852A>C	XP_006716750.1:p.Ser618Arg
XM_011517363.1:c.1570A>C	XP_011515665.1:p.Ser524Arg
XR_428387.1:n.2510A>C
XR_928360.1:n.2510A>C
XR_928361.1:n.2510A>C
XR_928362.1:n.2510A>C
XM_006716686.4:c.2149A>C	XP_006716749.1:p.Ser717Arg
XM_011517363.3:c.1570A>C	XP_011515665.1:p.Ser524Arg
XM_024447326.1:c.1798A>C	XP_024303094.1:p.Ser600Arg
XR_001745619.2:n.2493A>C
XR_428387.2:n.2493A>C
XR_928360.3:n.2493A>C
XR_928362.3:n.2493A>C
NM_153704.6:c.2452A>C MANE Select	NP_714915.3:p.Ser818Arg
NR_024522.2:n.2473A>C