Canonical Allele Identifier: CA371689751

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798510G>C (hg19) ; chr8:g.93786282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786282G>C , CM000670.2:g.93786282G>C	GRCh38
NC_000008.10:g.94798510G>C , CM000670.1:g.94798510G>C	GRCh37
NC_000008.9:g.94867686G>C	NCBI36
NG_009190.1:g.36439G>C , LRG_688:g.36439G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1348G>C	ENSP00000314488.4:p.Gly450Arg
ENST00000409623.8:c.1303G>C	ENSP00000386966.4:p.Gly435Arg
ENST00000452276.6:c.1348G>C	ENSP00000388671.2:p.Gly450Arg
ENST00000453906.6:c.466G>C	ENSP00000403035.2:p.Gly156Arg
ENST00000520680.2:c.1348G>C	ENSP00000428785.2:p.Gly450Arg
ENST00000521517.6:c.1348G>C	ENSP00000430740.2:p.Gly450Arg
ENST00000681998.1:c.1169G>C	ENSP00000506773.1:n.1169G>C
ENST00000682036.1:c.466G>C	ENSP00000508390.1:p.Gly156Arg
ENST00000682577.1:c.1121G>C	ENSP00000506963.1:n.1121G>C
ENST00000682624.1:c.*922G>C	ENSP00000508343.1:n.*922G>C
ENST00000682700.1:c.1348G>C	ENSP00000507627.1:p.Gly450Arg
ENST00000682744.1:n.886G>C
ENST00000682804.1:n.1171G>C
ENST00000682837.1:c.837G>C	ENSP00000507920.1:n.837G>C
ENST00000682935.1:n.3398G>C
ENST00000682984.1:c.1009G>C	ENSP00000507209.1:p.Gly337Arg
ENST00000683078.1:c.1103G>C	ENSP00000506796.1:n.1103G>C
ENST00000683223.1:c.1080G>C	ENSP00000507685.1:n.1080G>C
ENST00000683238.1:n.2572G>C
ENST00000683249.1:n.2945G>C
ENST00000683336.1:c.1169G>C	ENSP00000507695.1:n.1169G>C
ENST00000683362.1:c.1009G>C	ENSP00000506985.1:p.Gly337Arg
ENST00000683850.1:n.1271G>C
ENST00000683919.1:c.1278G>C	ENSP00000507617.1:n.1278G>C
ENST00000683953.1:c.1259G>C	ENSP00000508375.1:n.1259G>C
ENST00000684023.1:c.1325G>C	ENSP00000507461.1:n.1325G>C
ENST00000684064.1:c.1039G>C	ENSP00000508192.1:p.Gly347Arg
ENST00000684089.1:n.2898G>C
ENST00000684149.1:c.*527G>C	ENSP00000507943.1:n.*527G>C
ENST00000684416.1:n.1307G>C
ENST00000684540.1:c.1278G>C	ENSP00000507987.1:n.1278G>C
ENST00000453321.8:c.1348G>C MANE Select	ENSP00000389998.3:p.Gly450Arg
ENST00000323130.7:c.1318G>C	ENSP00000314488.3:p.Gly440Arg
ENST00000409623.7:c.1105G>C	ENSP00000386966.3:p.Gly369Arg
ENST00000452276.5:c.1039G>C	ENSP00000388671.1:p.Gly347Arg
ENST00000453321.7:c.1348G>C	ENSP00000389998.3:p.Gly450Arg
ENST00000453906.5:c.466G>C	ENSP00000403035.1:p.Gly156Arg
ENST00000474944.5:n.486G>C
ENST00000520680.1:c.170G>C
NM_001142301.1:c.1105G>C , LRG_688t2:c.1105G>C	NP_001135773.1:p.Gly369Arg
NM_153704.5:c.1348G>C , LRG_688t1:c.1348G>C	NP_714915.3:p.Gly450Arg
NR_024522.1:n.1419G>C
XM_006716686.2:c.1045G>C	XP_006716749.1:p.Gly349Arg
XM_006716687.2:c.748G>C	XP_006716750.1:p.Gly250Arg
XM_011517363.1:c.466G>C	XP_011515665.1:p.Gly156Arg
XR_428387.1:n.1406G>C
XR_928360.1:n.1406G>C
XR_928361.1:n.1406G>C
XR_928362.1:n.1406G>C
XM_006716686.4:c.1045G>C	XP_006716749.1:p.Gly349Arg
XM_011517363.3:c.466G>C	XP_011515665.1:p.Gly156Arg
XM_024447326.1:c.694G>C	XP_024303094.1:p.Gly232Arg
XR_001745619.2:n.1389G>C
XR_428387.2:n.1389G>C
XR_928360.3:n.1389G>C
XR_928362.3:n.1389G>C
NM_153704.6:c.1348G>C MANE Select	NP_714915.3:p.Gly450Arg
NR_024522.2:n.1369G>C