Canonical Allele Identifier: CA371689804

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798536G>T (hg19) ; chr8:g.93786308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786308G>T , CM000670.2:g.93786308G>T	GRCh38
NC_000008.10:g.94798536G>T , CM000670.1:g.94798536G>T	GRCh37
NC_000008.9:g.94867712G>T	NCBI36
NG_009190.1:g.36465G>T , LRG_688:g.36465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1374G>T	ENSP00000314488.4:p.Gln458His
ENST00000409623.8:c.1329G>T	ENSP00000386966.4:p.Gln443His
ENST00000452276.6:c.1374G>T	ENSP00000388671.2:p.Gln458His
ENST00000453906.6:c.492G>T	ENSP00000403035.2:p.Gln164His
ENST00000520680.2:c.1374G>T	ENSP00000428785.2:p.Gln458His
ENST00000521517.6:c.1374G>T	ENSP00000430740.2:p.Gln458His
ENST00000681998.1:c.1195G>T	ENSP00000506773.1:n.1195G>T
ENST00000682036.1:c.492G>T	ENSP00000508390.1:p.Gln164His
ENST00000682577.1:c.1147G>T	ENSP00000506963.1:n.1147G>T
ENST00000682624.1:c.*948G>T	ENSP00000508343.1:n.*948G>T
ENST00000682700.1:c.1374G>T	ENSP00000507627.1:p.Gln458His
ENST00000682744.1:n.912G>T
ENST00000682804.1:n.1197G>T
ENST00000682837.1:c.863G>T	ENSP00000507920.1:n.863G>T
ENST00000682935.1:n.3424G>T
ENST00000682984.1:c.1035G>T	ENSP00000507209.1:p.Gln345His
ENST00000683078.1:c.1129G>T	ENSP00000506796.1:n.1129G>T
ENST00000683223.1:c.1106G>T	ENSP00000507685.1:n.1106G>T
ENST00000683238.1:n.2598G>T
ENST00000683249.1:n.2971G>T
ENST00000683336.1:c.1195G>T	ENSP00000507695.1:n.1195G>T
ENST00000683362.1:c.1035G>T	ENSP00000506985.1:p.Gln345His
ENST00000683850.1:n.1297G>T
ENST00000683919.1:c.1304G>T	ENSP00000507617.1:n.1304G>T
ENST00000683953.1:c.1285G>T	ENSP00000508375.1:n.1285G>T
ENST00000684023.1:c.1351G>T	ENSP00000507461.1:n.1351G>T
ENST00000684064.1:c.1065G>T	ENSP00000508192.1:p.Gln355His
ENST00000684089.1:n.2924G>T
ENST00000684149.1:c.*553G>T	ENSP00000507943.1:n.*553G>T
ENST00000684416.1:n.1333G>T
ENST00000684540.1:c.1304G>T	ENSP00000507987.1:n.1304G>T
ENST00000453321.8:c.1374G>T MANE Select	ENSP00000389998.3:p.Gln458His
ENST00000323130.7:c.1344G>T	ENSP00000314488.3:p.Gln448His
ENST00000409623.7:c.1131G>T	ENSP00000386966.3:p.Gln377His
ENST00000452276.5:c.1065G>T	ENSP00000388671.1:p.Gln355His
ENST00000453321.7:c.1374G>T	ENSP00000389998.3:p.Gln458His
ENST00000453906.5:c.492G>T	ENSP00000403035.1:p.Gln164His
ENST00000474944.5:n.512G>T
ENST00000520680.1:c.196G>T
NM_001142301.1:c.1131G>T , LRG_688t2:c.1131G>T	NP_001135773.1:p.Gln377His
NM_153704.5:c.1374G>T , LRG_688t1:c.1374G>T	NP_714915.3:p.Gln458His
NR_024522.1:n.1445G>T
XM_006716686.2:c.1071G>T	XP_006716749.1:p.Gln357His
XM_006716687.2:c.774G>T	XP_006716750.1:p.Gln258His
XM_011517363.1:c.492G>T	XP_011515665.1:p.Gln164His
XR_428387.1:n.1432G>T
XR_928360.1:n.1432G>T
XR_928361.1:n.1432G>T
XR_928362.1:n.1432G>T
XM_006716686.4:c.1071G>T	XP_006716749.1:p.Gln357His
XM_011517363.3:c.492G>T	XP_011515665.1:p.Gln164His
XM_024447326.1:c.720G>T	XP_024303094.1:p.Gln240His
XR_001745619.2:n.1415G>T
XR_428387.2:n.1415G>T
XR_928360.3:n.1415G>T
XR_928362.3:n.1415G>T
NM_153704.6:c.1374G>T MANE Select	NP_714915.3:p.Gln458His
NR_024522.2:n.1395G>T