Canonical Allele Identifier: CA371688007

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792939C>T (hg19) ; chr8:g.93780711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780711C>T , CM000670.2:g.93780711C>T	GRCh38
NC_000008.10:g.94792939C>T , CM000670.1:g.94792939C>T	GRCh37
NC_000008.9:g.94862115C>T	NCBI36
NG_009190.1:g.30868C>T , LRG_688:g.30868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.833C>T	ENSP00000314488.4:p.Thr278Ile
ENST00000409623.8:c.833C>T	ENSP00000386966.4:p.Thr278Ile
ENST00000452276.6:c.833C>T	ENSP00000388671.2:p.Thr278Ile
ENST00000453906.6:c.407-5512C>T	ENSP00000403035.2:n.407-5512C>T
ENST00000520680.2:c.833C>T	ENSP00000428785.2:p.Thr278Ile
ENST00000521065.2:c.*550C>T	ENSP00000427947.2:n.*550C>T
ENST00000521517.6:c.833C>T	ENSP00000430740.2:p.Thr278Ile
ENST00000681998.1:c.763C>T	ENSP00000506773.1:n.763C>T
ENST00000682036.1:c.407-5512C>T	ENSP00000508390.1:n.407-5512C>T
ENST00000682577.1:c.763C>T	ENSP00000506963.1:n.763C>T
ENST00000682624.1:c.*407C>T	ENSP00000508343.1:n.*407C>T
ENST00000682700.1:c.833C>T	ENSP00000507627.1:p.Thr278Ile
ENST00000682744.1:n.371C>T
ENST00000682804.1:n.656C>T
ENST00000682837.1:c.588C>T	ENSP00000507920.1:n.588C>T
ENST00000682935.1:n.2393C>T
ENST00000682984.1:c.494C>T	ENSP00000507209.1:p.Thr165Ile
ENST00000683078.1:c.588C>T	ENSP00000506796.1:n.588C>T
ENST00000683223.1:c.674C>T	ENSP00000507685.1:n.674C>T
ENST00000683238.1:n.2214C>T
ENST00000683249.1:n.2414C>T
ENST00000683336.1:c.763C>T	ENSP00000507695.1:n.763C>T
ENST00000683362.1:c.494C>T	ENSP00000506985.1:p.Thr165Ile
ENST00000683850.1:n.756C>T
ENST00000683919.1:c.763C>T	ENSP00000507617.1:n.763C>T
ENST00000683953.1:c.744C>T	ENSP00000508375.1:n.744C>T
ENST00000684023.1:c.967C>T	ENSP00000507461.1:n.967C>T
ENST00000684064.1:c.524C>T	ENSP00000508192.1:p.Thr175Ile
ENST00000684089.1:n.2383C>T
ENST00000684149.1:c.*169C>T	ENSP00000507943.1:n.*169C>T
ENST00000684416.1:n.792C>T
ENST00000684540.1:c.763C>T	ENSP00000507987.1:n.763C>T
ENST00000453321.8:c.833C>T MANE Select	ENSP00000389998.3:p.Thr278Ile
ENST00000323130.7:c.803C>T	ENSP00000314488.3:p.Thr268Ile
ENST00000409623.7:c.590C>T	ENSP00000386966.3:p.Thr197Ile
ENST00000425545.2:n.280C>T
ENST00000452276.5:c.524C>T	ENSP00000388671.1:p.Thr175Ile
ENST00000453321.7:c.833C>T	ENSP00000389998.3:p.Thr278Ile
ENST00000453906.5:c.407-5512C>T	ENSP00000403035.1:n.407-5512C>T
ENST00000474944.5:n.427-5512C>T
ENST00000496213.5:n.298C>T
NM_001142301.1:c.590C>T , LRG_688t2:c.590C>T	NP_001135773.1:p.Thr197Ile
NM_153704.5:c.833C>T , LRG_688t1:c.833C>T	NP_714915.3:p.Thr278Ile
NR_024522.1:n.904C>T
XM_006716686.2:c.530C>T	XP_006716749.1:p.Thr177Ile
XM_006716687.2:c.233C>T	XP_006716750.1:p.Thr78Ile
XM_011517363.1:c.407-5512C>T	XP_011515665.1:n.407-5512C>T
XR_428387.1:n.891C>T
XR_928360.1:n.891C>T
XR_928361.1:n.891C>T
XR_928362.1:n.891C>T
XM_006716686.4:c.530C>T	XP_006716749.1:p.Thr177Ile
XM_011517363.3:c.407-5512C>T	XP_011515665.1:n.407-5512C>T
XM_024447326.1:c.179C>T	XP_024303094.1:p.Thr60Ile
XR_001745619.2:n.874C>T
XR_428387.2:n.874C>T
XR_928360.3:n.874C>T
XR_928362.3:n.874C>T
NM_153704.6:c.833C>T MANE Select	NP_714915.3:p.Thr278Ile
NR_024522.2:n.854C>T