Canonical Allele Identifier: CA251766

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93793256G>A , CM000670.2:g.93793256G>A	GRCh38
NC_000008.10:g.94805484G>A , CM000670.1:g.94805484G>A	GRCh37
NC_000008.9:g.94874660G>A	NCBI36
NG_009190.1:g.43413G>A , LRG_688:g.43413G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1634G>A MANE Select	NP_714915.3:p.Gly545Glu
ENST00000453321.8:c.1634G>A MANE Select	ENSP00000389998.3:p.Gly545Glu
NM_001142301.1:c.1391G>A , LRG_688t2:c.1391G>A	NP_001135773.1:p.Gly464Glu
NM_153704.5:c.1634G>A , LRG_688t1:c.1634G>A	NP_714915.3:p.Gly545Glu
NR_024522.1:n.1705G>A
NR_024522.2:n.1655G>A
ENST00000323130.7:c.1604G>A	ENSP00000314488.3:p.Gly535Glu
ENST00000323130.8:c.1634G>A	ENSP00000314488.4:p.Gly545Glu
ENST00000409623.7:c.1391G>A	ENSP00000386966.3:p.Gly464Glu
ENST00000409623.8:c.1589G>A	ENSP00000386966.4:p.Gly530Glu
ENST00000452276.6:c.1634G>A	ENSP00000388671.2:p.Gly545Glu
ENST00000453321.7:c.1634G>A	ENSP00000389998.3:p.Gly545Glu
ENST00000453906.6:c.752G>A	ENSP00000403035.2:p.Gly251Glu
ENST00000474944.5:n.772G>A
ENST00000520680.1:c.579G>A
ENST00000520680.2:c.1757G>A	ENSP00000428785.2:p.Gly586Glu
ENST00000521517.6:c.1634G>A	ENSP00000430740.2:p.Gly545Glu
ENST00000523230.5:n.169G>A
ENST00000681998.1:c.1455G>A	ENSP00000506773.1:n.1455G>A
ENST00000682036.1:c.875G>A	ENSP00000508390.1:p.Gly292Glu
ENST00000682577.1:c.1407G>A	ENSP00000506963.1:n.1407G>A
ENST00000682624.1:c.*1208G>A	ENSP00000508343.1:n.*1208G>A
ENST00000682700.1:c.1634G>A	ENSP00000507627.1:p.Gly545Glu
ENST00000682744.1:n.1172G>A
ENST00000682804.1:n.1457G>A
ENST00000682837.1:c.1123G>A	ENSP00000507920.1:n.1123G>A
ENST00000682935.1:n.3684G>A
ENST00000682984.1:c.1295G>A	ENSP00000507209.1:p.Gly432Glu
ENST00000683078.1:c.1389G>A	ENSP00000506796.1:n.1389G>A
ENST00000683223.1:c.1366G>A	ENSP00000507685.1:n.1366G>A
ENST00000683238.1:n.2858G>A
ENST00000683249.1:n.3231G>A
ENST00000683336.1:c.1455G>A	ENSP00000507695.1:n.1455G>A
ENST00000683362.1:c.1295G>A	ENSP00000506985.1:p.Gly432Glu
ENST00000683850.1:n.1557G>A
ENST00000683919.1:c.1564G>A	ENSP00000507617.1:n.1564G>A
ENST00000683953.1:c.1545G>A	ENSP00000508375.1:n.1545G>A
ENST00000684023.1:c.1611G>A	ENSP00000507461.1:n.1611G>A
ENST00000684064.1:c.1325G>A	ENSP00000508192.1:p.Gly442Glu
ENST00000684089.1:n.3184G>A
ENST00000684149.1:c.*813G>A	ENSP00000507943.1:n.*813G>A
ENST00000684416.1:n.1593G>A
ENST00000684540.1:c.1564G>A	ENSP00000507987.1:n.1564G>A
XM_006716686.2:c.1331G>A	XP_006716749.1:p.Gly444Glu
XM_006716686.4:c.1331G>A	XP_006716749.1:p.Gly444Glu
XM_006716687.2:c.1034G>A	XP_006716750.1:p.Gly345Glu
XM_011517363.1:c.752G>A	XP_011515665.1:p.Gly251Glu
XM_011517363.3:c.752G>A	XP_011515665.1:p.Gly251Glu
XM_024447326.1:c.980G>A	XP_024303094.1:p.Gly327Glu
XR_001745619.2:n.1675G>A
XR_428387.1:n.1692G>A
XR_428387.2:n.1675G>A
XR_928360.1:n.1692G>A
XR_928360.3:n.1675G>A
XR_928361.1:n.1692G>A
XR_928362.1:n.1692G>A
XR_928362.3:n.1675G>A