Canonical Allele Identifier: CA371692100

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93795408G>T , CM000670.2:g.93795408G>T	GRCh38
NC_000008.10:g.94807636G>T , CM000670.1:g.94807636G>T	GRCh37
NC_000008.9:g.94876812G>T	NCBI36
NG_009190.1:g.45565G>T , LRG_688:g.45565G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1675-1G>T MANE Select	NP_714915.3:n.1675-1G>T
ENST00000453321.8:c.1675-1G>T MANE Select	ENSP00000389998.3:n.1675-1G>T
NM_001142301.1:c.1432-1G>T , LRG_688t2:c.1432-1G>T	NP_001135773.1:n.1432-1G>T
NM_153704.5:c.1675-1G>T , LRG_688t1:c.1675-1G>T	NP_714915.3:n.1675-1G>T
NR_024522.1:n.1746-1G>T
NR_024522.2:n.1696-1G>T
ENST00000323130.7:c.1645-1G>T	ENSP00000314488.3:n.1645-1G>T
ENST00000323130.8:c.1675-1G>T	ENSP00000314488.4:n.1675-1G>T
ENST00000409623.7:c.1432-1G>T	ENSP00000386966.3:n.1432-1G>T
ENST00000409623.8:c.1630-1G>T	ENSP00000386966.4:n.1630-1G>T
ENST00000452276.6:c.1675-1G>T	ENSP00000388671.2:n.1675-1G>T
ENST00000453321.7:c.1675-1G>T	ENSP00000389998.3:n.1675-1G>T
ENST00000453906.6:c.793-1G>T	ENSP00000403035.2:n.793-1G>T
ENST00000474944.5:n.813-1G>T
ENST00000519845.5:n.407-1G>T
ENST00000520680.1:c.620-1G>T
ENST00000520680.2:c.1798-1G>T	ENSP00000428785.2:n.1798-1G>T
ENST00000521517.6:c.1675-493G>T	ENSP00000430740.2:n.1675-493G>T
ENST00000523230.5:n.210-1G>T
ENST00000681998.1:c.1496-1G>T	ENSP00000506773.1:n.1496-1G>T
ENST00000682036.1:c.916-1G>T	ENSP00000508390.1:n.916-1G>T
ENST00000682577.1:c.1448-1G>T	ENSP00000506963.1:n.1448-1G>T
ENST00000682624.1:c.*1249-1G>T	ENSP00000508343.1:n.*1249-1G>T
ENST00000682700.1:c.1675-1G>T	ENSP00000507627.1:n.1675-1G>T
ENST00000682744.1:n.1213-1G>T
ENST00000682804.1:n.1498-1G>T
ENST00000682837.1:c.1164-1G>T	ENSP00000507920.1:n.1164-1G>T
ENST00000682935.1:n.3725-1G>T
ENST00000682984.1:c.1336-1G>T	ENSP00000507209.1:n.1336-1G>T
ENST00000683078.1:c.1430-1G>T	ENSP00000506796.1:n.1430-1G>T
ENST00000683223.1:c.1407-1G>T	ENSP00000507685.1:n.1407-1G>T
ENST00000683238.1:n.2899-1G>T
ENST00000683249.1:n.3272-1G>T
ENST00000683336.1:c.1496-1G>T	ENSP00000507695.1:n.1496-1G>T
ENST00000683362.1:c.1336-1G>T	ENSP00000506985.1:n.1336-1G>T
ENST00000683850.1:n.1598-1G>T
ENST00000683919.1:c.1605-1G>T	ENSP00000507617.1:n.1605-1G>T
ENST00000683953.1:c.1586-1G>T	ENSP00000508375.1:n.1586-1G>T
ENST00000684023.1:c.1652-1G>T	ENSP00000507461.1:n.1652-1G>T
ENST00000684064.1:c.1366-1G>T	ENSP00000508192.1:n.1366-1G>T
ENST00000684089.1:n.3225-1G>T
ENST00000684149.1:c.*854-1G>T	ENSP00000507943.1:n.*854-1G>T
ENST00000684343.1:c.-129-1G>T	ENSP00000507591.1:n.-129-1G>T
ENST00000684416.1:n.1634-1G>T
ENST00000684540.1:c.1605-1G>T	ENSP00000507987.1:n.1605-1G>T
XM_006716686.2:c.1372-1G>T	XP_006716749.1:n.1372-1G>T
XM_006716686.4:c.1372-1G>T	XP_006716749.1:n.1372-1G>T
XM_006716687.2:c.1075-1G>T	XP_006716750.1:n.1075-1G>T
XM_011517363.1:c.793-1G>T	XP_011515665.1:n.793-1G>T
XM_011517363.3:c.793-1G>T	XP_011515665.1:n.793-1G>T
XM_024447326.1:c.1021-1G>T	XP_024303094.1:n.1021-1G>T
XR_001745619.2:n.1716-1G>T
XR_428387.1:n.1733-1G>T
XR_428387.2:n.1716-1G>T
XR_928360.1:n.1733-1G>T
XR_928360.3:n.1716-1G>T
XR_928361.1:n.1733-1G>T
XR_928362.1:n.1733-1G>T
XR_928362.3:n.1716-1G>T