Canonical Allele Identifier: CA461855645

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792829C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780601C>G , CM000670.2:g.93780601C>G	GRCh38
NC_000008.10:g.94792829C>G , CM000670.1:g.94792829C>G	GRCh37
NC_000008.9:g.94862005C>G	NCBI36
NG_009190.1:g.30758C>G , LRG_688:g.30758C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.723C>G	ENSP00000314488.4:p.Ala241=
ENST00000409623.8:c.723C>G	ENSP00000386966.4:p.Ala241=
ENST00000452276.6:c.723C>G	ENSP00000388671.2:p.Ala241=
ENST00000453906.6:c.407-5622C>G	ENSP00000403035.2:n.407-5622C>G
ENST00000520680.2:c.723C>G	ENSP00000428785.2:p.Ala241=
ENST00000521065.2:c.*440C>G	ENSP00000427947.2:n.*440C>G
ENST00000521517.6:c.723C>G	ENSP00000430740.2:p.Ala241=
ENST00000681998.1:c.653C>G	ENSP00000506773.1:n.653C>G
ENST00000682036.1:c.407-5622C>G	ENSP00000508390.1:n.407-5622C>G
ENST00000682577.1:c.653C>G	ENSP00000506963.1:n.653C>G
ENST00000682624.1:c.*297C>G	ENSP00000508343.1:n.*297C>G
ENST00000682700.1:c.723C>G	ENSP00000507627.1:p.Ala241=
ENST00000682744.1:n.261C>G
ENST00000682804.1:n.546C>G
ENST00000682837.1:c.478C>G	ENSP00000507920.1:p.Gln160Glu
ENST00000682935.1:n.2283C>G
ENST00000682984.1:c.384C>G	ENSP00000507209.1:p.Ala128=
ENST00000683078.1:c.478C>G	ENSP00000506796.1:p.Gln160Glu
ENST00000683223.1:c.564C>G	ENSP00000507685.1:n.564C>G
ENST00000683238.1:n.2104C>G
ENST00000683249.1:n.2304C>G
ENST00000683336.1:c.653C>G	ENSP00000507695.1:n.653C>G
ENST00000683362.1:c.384C>G	ENSP00000506985.1:p.Ala128=
ENST00000683850.1:n.646C>G
ENST00000683919.1:c.653C>G	ENSP00000507617.1:n.653C>G
ENST00000683953.1:c.634C>G	ENSP00000508375.1:n.634C>G
ENST00000684023.1:c.857C>G	ENSP00000507461.1:n.857C>G
ENST00000684064.1:c.414C>G	ENSP00000508192.1:p.Ala138=
ENST00000684089.1:n.2273C>G
ENST00000684149.1:c.*59C>G	ENSP00000507943.1:n.*59C>G
ENST00000684416.1:n.682C>G
ENST00000684540.1:c.653C>G	ENSP00000507987.1:n.653C>G
ENST00000453321.8:c.723C>G MANE Select	ENSP00000389998.3:p.Ala241=
ENST00000323130.7:c.693C>G	ENSP00000314488.3:p.Ala231=
ENST00000409623.7:c.480C>G	ENSP00000386966.3:p.Ala160=
ENST00000425545.2:n.170C>G
ENST00000452276.5:c.414C>G	ENSP00000388671.1:p.Ala138=
ENST00000453321.7:c.723C>G	ENSP00000389998.3:p.Ala241=
ENST00000453906.5:c.407-5622C>G	ENSP00000403035.1:n.407-5622C>G
ENST00000474944.5:n.427-5622C>G
ENST00000496213.5:n.188C>G
NM_001142301.1:c.480C>G , LRG_688t2:c.480C>G	NP_001135773.1:p.Ala160=
NM_153704.5:c.723C>G , LRG_688t1:c.723C>G	NP_714915.3:p.Ala241=
NR_024522.1:n.794C>G
XM_006716686.2:c.420C>G	XP_006716749.1:p.Ala140=
XM_006716687.2:c.123C>G	XP_006716750.1:p.Ala41=
XM_011517363.1:c.407-5622C>G	XP_011515665.1:n.407-5622C>G
XR_428387.1:n.781C>G
XR_928360.1:n.781C>G
XR_928361.1:n.781C>G
XR_928362.1:n.781C>G
XM_006716686.4:c.420C>G	XP_006716749.1:p.Ala140=
XM_011517363.3:c.407-5622C>G	XP_011515665.1:n.407-5622C>G
XM_024447326.1:c.69C>G	XP_024303094.1:p.Ala23=
XR_001745619.2:n.764C>G
XR_428387.2:n.764C>G
XR_928360.3:n.764C>G
XR_928362.3:n.764C>G
NM_153704.6:c.723C>G MANE Select	NP_714915.3:p.Ala241=
NR_024522.2:n.744C>G