Canonical Allele Identifier: CA371687975

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792932G>C (hg19) ; chr8:g.93780704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780704G>C , CM000670.2:g.93780704G>C	GRCh38
NC_000008.10:g.94792932G>C , CM000670.1:g.94792932G>C	GRCh37
NC_000008.9:g.94862108G>C	NCBI36
NG_009190.1:g.30861G>C , LRG_688:g.30861G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.826G>C	ENSP00000314488.4:p.Glu276Gln
ENST00000409623.8:c.826G>C	ENSP00000386966.4:p.Glu276Gln
ENST00000452276.6:c.826G>C	ENSP00000388671.2:p.Glu276Gln
ENST00000453906.6:c.407-5519G>C	ENSP00000403035.2:n.407-5519G>C
ENST00000520680.2:c.826G>C	ENSP00000428785.2:p.Glu276Gln
ENST00000521065.2:c.*543G>C	ENSP00000427947.2:n.*543G>C
ENST00000521517.6:c.826G>C	ENSP00000430740.2:p.Glu276Gln
ENST00000681998.1:c.756G>C	ENSP00000506773.1:n.756G>C
ENST00000682036.1:c.407-5519G>C	ENSP00000508390.1:n.407-5519G>C
ENST00000682577.1:c.756G>C	ENSP00000506963.1:n.756G>C
ENST00000682624.1:c.*400G>C	ENSP00000508343.1:n.*400G>C
ENST00000682700.1:c.826G>C	ENSP00000507627.1:p.Glu276Gln
ENST00000682744.1:n.364G>C
ENST00000682804.1:n.649G>C
ENST00000682837.1:c.581G>C	ENSP00000507920.1:n.581G>C
ENST00000682935.1:n.2386G>C
ENST00000682984.1:c.487G>C	ENSP00000507209.1:p.Glu163Gln
ENST00000683078.1:c.581G>C	ENSP00000506796.1:n.581G>C
ENST00000683223.1:c.667G>C	ENSP00000507685.1:n.667G>C
ENST00000683238.1:n.2207G>C
ENST00000683249.1:n.2407G>C
ENST00000683336.1:c.756G>C	ENSP00000507695.1:n.756G>C
ENST00000683362.1:c.487G>C	ENSP00000506985.1:p.Glu163Gln
ENST00000683850.1:n.749G>C
ENST00000683919.1:c.756G>C	ENSP00000507617.1:n.756G>C
ENST00000683953.1:c.737G>C	ENSP00000508375.1:n.737G>C
ENST00000684023.1:c.960G>C	ENSP00000507461.1:n.960G>C
ENST00000684064.1:c.517G>C	ENSP00000508192.1:p.Glu173Gln
ENST00000684089.1:n.2376G>C
ENST00000684149.1:c.*162G>C	ENSP00000507943.1:n.*162G>C
ENST00000684416.1:n.785G>C
ENST00000684540.1:c.756G>C	ENSP00000507987.1:n.756G>C
ENST00000453321.8:c.826G>C MANE Select	ENSP00000389998.3:p.Glu276Gln
ENST00000323130.7:c.796G>C	ENSP00000314488.3:p.Glu266Gln
ENST00000409623.7:c.583G>C	ENSP00000386966.3:p.Glu195Gln
ENST00000425545.2:n.273G>C
ENST00000452276.5:c.517G>C	ENSP00000388671.1:p.Glu173Gln
ENST00000453321.7:c.826G>C	ENSP00000389998.3:p.Glu276Gln
ENST00000453906.5:c.407-5519G>C	ENSP00000403035.1:n.407-5519G>C
ENST00000474944.5:n.427-5519G>C
ENST00000496213.5:n.291G>C
NM_001142301.1:c.583G>C , LRG_688t2:c.583G>C	NP_001135773.1:p.Glu195Gln
NM_153704.5:c.826G>C , LRG_688t1:c.826G>C	NP_714915.3:p.Glu276Gln
NR_024522.1:n.897G>C
XM_006716686.2:c.523G>C	XP_006716749.1:p.Glu175Gln
XM_006716687.2:c.226G>C	XP_006716750.1:p.Glu76Gln
XM_011517363.1:c.407-5519G>C	XP_011515665.1:n.407-5519G>C
XR_428387.1:n.884G>C
XR_928360.1:n.884G>C
XR_928361.1:n.884G>C
XR_928362.1:n.884G>C
XM_006716686.4:c.523G>C	XP_006716749.1:p.Glu175Gln
XM_011517363.3:c.407-5519G>C	XP_011515665.1:n.407-5519G>C
XM_024447326.1:c.172G>C	XP_024303094.1:p.Glu58Gln
XR_001745619.2:n.867G>C
XR_428387.2:n.867G>C
XR_928360.3:n.867G>C
XR_928362.3:n.867G>C
NM_153704.6:c.826G>C MANE Select	NP_714915.3:p.Glu276Gln
NR_024522.2:n.847G>C