Canonical Allele Identifier: CA371687816

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792878A>C (hg19) ; chr8:g.93780650A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780650A>C , CM000670.2:g.93780650A>C	GRCh38
NC_000008.10:g.94792878A>C , CM000670.1:g.94792878A>C	GRCh37
NC_000008.9:g.94862054A>C	NCBI36
NG_009190.1:g.30807A>C , LRG_688:g.30807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.772A>C	ENSP00000314488.4:p.Asn258His
ENST00000409623.8:c.772A>C	ENSP00000386966.4:p.Asn258His
ENST00000452276.6:c.772A>C	ENSP00000388671.2:p.Asn258His
ENST00000453906.6:c.407-5573A>C	ENSP00000403035.2:n.407-5573A>C
ENST00000520680.2:c.772A>C	ENSP00000428785.2:p.Asn258His
ENST00000521065.2:c.*489A>C	ENSP00000427947.2:n.*489A>C
ENST00000521517.6:c.772A>C	ENSP00000430740.2:p.Asn258His
ENST00000681998.1:c.702A>C	ENSP00000506773.1:n.702A>C
ENST00000682036.1:c.407-5573A>C	ENSP00000508390.1:n.407-5573A>C
ENST00000682577.1:c.702A>C	ENSP00000506963.1:n.702A>C
ENST00000682624.1:c.*346A>C	ENSP00000508343.1:n.*346A>C
ENST00000682700.1:c.772A>C	ENSP00000507627.1:p.Asn258His
ENST00000682744.1:n.310A>C
ENST00000682804.1:n.595A>C
ENST00000682837.1:c.527A>C	ENSP00000507920.1:p.Glu176Ala
ENST00000682935.1:n.2332A>C
ENST00000682984.1:c.433A>C	ENSP00000507209.1:p.Asn145His
ENST00000683078.1:c.527A>C	ENSP00000506796.1:p.Glu176Ala
ENST00000683223.1:c.613A>C	ENSP00000507685.1:n.613A>C
ENST00000683238.1:n.2153A>C
ENST00000683249.1:n.2353A>C
ENST00000683336.1:c.702A>C	ENSP00000507695.1:n.702A>C
ENST00000683362.1:c.433A>C	ENSP00000506985.1:p.Asn145His
ENST00000683850.1:n.695A>C
ENST00000683919.1:c.702A>C	ENSP00000507617.1:n.702A>C
ENST00000683953.1:c.683A>C	ENSP00000508375.1:n.683A>C
ENST00000684023.1:c.906A>C	ENSP00000507461.1:n.906A>C
ENST00000684064.1:c.463A>C	ENSP00000508192.1:p.Asn155His
ENST00000684089.1:n.2322A>C
ENST00000684149.1:c.*108A>C	ENSP00000507943.1:n.*108A>C
ENST00000684416.1:n.731A>C
ENST00000684540.1:c.702A>C	ENSP00000507987.1:n.702A>C
ENST00000453321.8:c.772A>C MANE Select	ENSP00000389998.3:p.Asn258His
ENST00000323130.7:c.742A>C	ENSP00000314488.3:p.Asn248His
ENST00000409623.7:c.529A>C	ENSP00000386966.3:p.Asn177His
ENST00000425545.2:n.219A>C
ENST00000452276.5:c.463A>C	ENSP00000388671.1:p.Asn155His
ENST00000453321.7:c.772A>C	ENSP00000389998.3:p.Asn258His
ENST00000453906.5:c.407-5573A>C	ENSP00000403035.1:n.407-5573A>C
ENST00000474944.5:n.427-5573A>C
ENST00000496213.5:n.237A>C
NM_001142301.1:c.529A>C , LRG_688t2:c.529A>C	NP_001135773.1:p.Asn177His
NM_153704.5:c.772A>C , LRG_688t1:c.772A>C	NP_714915.3:p.Asn258His
NR_024522.1:n.843A>C
XM_006716686.2:c.469A>C	XP_006716749.1:p.Asn157His
XM_006716687.2:c.172A>C	XP_006716750.1:p.Asn58His
XM_011517363.1:c.407-5573A>C	XP_011515665.1:n.407-5573A>C
XR_428387.1:n.830A>C
XR_928360.1:n.830A>C
XR_928361.1:n.830A>C
XR_928362.1:n.830A>C
XM_006716686.4:c.469A>C	XP_006716749.1:p.Asn157His
XM_011517363.3:c.407-5573A>C	XP_011515665.1:n.407-5573A>C
XM_024447326.1:c.118A>C	XP_024303094.1:p.Asn40His
XR_001745619.2:n.813A>C
XR_428387.2:n.813A>C
XR_928360.3:n.813A>C
XR_928362.3:n.813A>C
NM_153704.6:c.772A>C MANE Select	NP_714915.3:p.Asn258His
NR_024522.2:n.793A>C