Canonical Allele Identifier: CA461855671

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780646-C-T
• MyVariant Identifiers: chr8:g.94792874C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780646C>T , CM000670.2:g.93780646C>T	GRCh38
NC_000008.10:g.94792874C>T , CM000670.1:g.94792874C>T	GRCh37
NC_000008.9:g.94862050C>T	NCBI36
NG_009190.1:g.30803C>T , LRG_688:g.30803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.768C>T	ENSP00000314488.4:p.Asn256=
ENST00000409623.8:c.768C>T	ENSP00000386966.4:p.Asn256=
ENST00000452276.6:c.768C>T	ENSP00000388671.2:p.Asn256=
ENST00000453906.6:c.407-5577C>T	ENSP00000403035.2:n.407-5577C>T
ENST00000520680.2:c.768C>T	ENSP00000428785.2:p.Asn256=
ENST00000521065.2:c.*485C>T	ENSP00000427947.2:n.*485C>T
ENST00000521517.6:c.768C>T	ENSP00000430740.2:p.Asn256=
ENST00000681998.1:c.698C>T	ENSP00000506773.1:n.698C>T
ENST00000682036.1:c.407-5577C>T	ENSP00000508390.1:n.407-5577C>T
ENST00000682577.1:c.698C>T	ENSP00000506963.1:n.698C>T
ENST00000682624.1:c.*342C>T	ENSP00000508343.1:n.*342C>T
ENST00000682700.1:c.768C>T	ENSP00000507627.1:p.Asn256=
ENST00000682744.1:n.306C>T
ENST00000682804.1:n.591C>T
ENST00000682837.1:c.523C>T	ENSP00000507920.1:p.His175Tyr
ENST00000682935.1:n.2328C>T
ENST00000682984.1:c.429C>T	ENSP00000507209.1:p.Asn143=
ENST00000683078.1:c.523C>T	ENSP00000506796.1:p.His175Tyr
ENST00000683223.1:c.609C>T	ENSP00000507685.1:n.609C>T
ENST00000683238.1:n.2149C>T
ENST00000683249.1:n.2349C>T
ENST00000683336.1:c.698C>T	ENSP00000507695.1:n.698C>T
ENST00000683362.1:c.429C>T	ENSP00000506985.1:p.Asn143=
ENST00000683850.1:n.691C>T
ENST00000683919.1:c.698C>T	ENSP00000507617.1:n.698C>T
ENST00000683953.1:c.679C>T	ENSP00000508375.1:n.679C>T
ENST00000684023.1:c.902C>T	ENSP00000507461.1:n.902C>T
ENST00000684064.1:c.459C>T	ENSP00000508192.1:p.Asn153=
ENST00000684089.1:n.2318C>T
ENST00000684149.1:c.*104C>T	ENSP00000507943.1:n.*104C>T
ENST00000684416.1:n.727C>T
ENST00000684540.1:c.698C>T	ENSP00000507987.1:n.698C>T
ENST00000453321.8:c.768C>T MANE Select	ENSP00000389998.3:p.Asn256=
ENST00000323130.7:c.738C>T	ENSP00000314488.3:p.Asn246=
ENST00000409623.7:c.525C>T	ENSP00000386966.3:p.Asn175=
ENST00000425545.2:n.215C>T
ENST00000452276.5:c.459C>T	ENSP00000388671.1:p.Asn153=
ENST00000453321.7:c.768C>T	ENSP00000389998.3:p.Asn256=
ENST00000453906.5:c.407-5577C>T	ENSP00000403035.1:n.407-5577C>T
ENST00000474944.5:n.427-5577C>T
ENST00000496213.5:n.233C>T
NM_001142301.1:c.525C>T , LRG_688t2:c.525C>T	NP_001135773.1:p.Asn175=
NM_153704.5:c.768C>T , LRG_688t1:c.768C>T	NP_714915.3:p.Asn256=
NR_024522.1:n.839C>T
XM_006716686.2:c.465C>T	XP_006716749.1:p.Asn155=
XM_006716687.2:c.168C>T	XP_006716750.1:p.Asn56=
XM_011517363.1:c.407-5577C>T	XP_011515665.1:n.407-5577C>T
XR_428387.1:n.826C>T
XR_928360.1:n.826C>T
XR_928361.1:n.826C>T
XR_928362.1:n.826C>T
XM_006716686.4:c.465C>T	XP_006716749.1:p.Asn155=
XM_011517363.3:c.407-5577C>T	XP_011515665.1:n.407-5577C>T
XM_024447326.1:c.114C>T	XP_024303094.1:p.Asn38=
XR_001745619.2:n.809C>T
XR_428387.2:n.809C>T
XR_928360.3:n.809C>T
XR_928362.3:n.809C>T
NM_153704.6:c.768C>T MANE Select	NP_714915.3:p.Asn256=
NR_024522.2:n.789C>T