Canonical Allele Identifier: CA371689849

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798561C>T (hg19) ; chr8:g.93786333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786333C>T , CM000670.2:g.93786333C>T	GRCh38
NC_000008.10:g.94798561C>T , CM000670.1:g.94798561C>T	GRCh37
NC_000008.9:g.94867737C>T	NCBI36
NG_009190.1:g.36490C>T , LRG_688:g.36490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1399C>T	ENSP00000314488.4:p.Gln467Ter
ENST00000409623.8:c.1354C>T	ENSP00000386966.4:p.Gln452Ter
ENST00000452276.6:c.1399C>T	ENSP00000388671.2:p.Gln467Ter
ENST00000453906.6:c.517C>T	ENSP00000403035.2:p.Gln173Ter
ENST00000520680.2:c.1399C>T	ENSP00000428785.2:p.Gln467Ter
ENST00000521517.6:c.1399C>T	ENSP00000430740.2:p.Gln467Ter
ENST00000681998.1:c.1220C>T	ENSP00000506773.1:n.1220C>T
ENST00000682036.1:c.517C>T	ENSP00000508390.1:p.Gln173Ter
ENST00000682577.1:c.1172C>T	ENSP00000506963.1:n.1172C>T
ENST00000682624.1:c.*973C>T	ENSP00000508343.1:n.*973C>T
ENST00000682700.1:c.1399C>T	ENSP00000507627.1:p.Gln467Ter
ENST00000682744.1:n.937C>T
ENST00000682804.1:n.1222C>T
ENST00000682837.1:c.888C>T	ENSP00000507920.1:n.888C>T
ENST00000682935.1:n.3449C>T
ENST00000682984.1:c.1060C>T	ENSP00000507209.1:p.Gln354Ter
ENST00000683078.1:c.1154C>T	ENSP00000506796.1:n.1154C>T
ENST00000683223.1:c.1131C>T	ENSP00000507685.1:n.1131C>T
ENST00000683238.1:n.2623C>T
ENST00000683249.1:n.2996C>T
ENST00000683336.1:c.1220C>T	ENSP00000507695.1:n.1220C>T
ENST00000683362.1:c.1060C>T	ENSP00000506985.1:p.Gln354Ter
ENST00000683850.1:n.1322C>T
ENST00000683919.1:c.1329C>T	ENSP00000507617.1:n.1329C>T
ENST00000683953.1:c.1310C>T	ENSP00000508375.1:n.1310C>T
ENST00000684023.1:c.1376C>T	ENSP00000507461.1:n.1376C>T
ENST00000684064.1:c.1090C>T	ENSP00000508192.1:p.Gln364Ter
ENST00000684089.1:n.2949C>T
ENST00000684149.1:c.*578C>T	ENSP00000507943.1:n.*578C>T
ENST00000684416.1:n.1358C>T
ENST00000684540.1:c.1329C>T	ENSP00000507987.1:n.1329C>T
ENST00000453321.8:c.1399C>T MANE Select	ENSP00000389998.3:p.Gln467Ter
ENST00000323130.7:c.1369C>T	ENSP00000314488.3:p.Gln457Ter
ENST00000409623.7:c.1156C>T	ENSP00000386966.3:p.Gln386Ter
ENST00000452276.5:c.1090C>T	ENSP00000388671.1:p.Gln364Ter
ENST00000453321.7:c.1399C>T	ENSP00000389998.3:p.Gln467Ter
ENST00000453906.5:c.517C>T	ENSP00000403035.1:p.Gln173Ter
ENST00000474944.5:n.537C>T
ENST00000520680.1:c.221C>T
NM_001142301.1:c.1156C>T , LRG_688t2:c.1156C>T	NP_001135773.1:p.Gln386Ter
NM_153704.5:c.1399C>T , LRG_688t1:c.1399C>T	NP_714915.3:p.Gln467Ter
NR_024522.1:n.1470C>T
XM_006716686.2:c.1096C>T	XP_006716749.1:p.Gln366Ter
XM_006716687.2:c.799C>T	XP_006716750.1:p.Gln267Ter
XM_011517363.1:c.517C>T	XP_011515665.1:p.Gln173Ter
XR_428387.1:n.1457C>T
XR_928360.1:n.1457C>T
XR_928361.1:n.1457C>T
XR_928362.1:n.1457C>T
XM_006716686.4:c.1096C>T	XP_006716749.1:p.Gln366Ter
XM_011517363.3:c.517C>T	XP_011515665.1:p.Gln173Ter
XM_024447326.1:c.745C>T	XP_024303094.1:p.Gln249Ter
XR_001745619.2:n.1440C>T
XR_428387.2:n.1440C>T
XR_928360.3:n.1440C>T
XR_928362.3:n.1440C>T
NM_153704.6:c.1399C>T MANE Select	NP_714915.3:p.Gln467Ter
NR_024522.2:n.1420C>T