Canonical Allele Identifier: CA2687922754

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93803591-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93803591C>T , CM000670.2:g.93803591C>T	GRCh38
NC_000008.10:g.94815819C>T , CM000670.1:g.94815819C>T	GRCh37
NC_000008.9:g.94884995C>T	NCBI36
NG_009190.1:g.53748C>T , LRG_688:g.53748C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.2242-13C>T	ENSP00000314488.4:n.2242-13C>T
ENST00000409623.8:c.2197-13C>T	ENSP00000386966.4:n.2197-13C>T
ENST00000452276.6:c.2242-13C>T	ENSP00000388671.2:n.2242-13C>T
ENST00000453906.6:c.1360-13C>T	ENSP00000403035.2:n.1360-13C>T
ENST00000518896.2:c.533-13C>T	ENSP00000507992.1:n.533-13C>T
ENST00000520680.2:c.2365-13C>T	ENSP00000428785.2:n.2365-13C>T
ENST00000521517.6:c.2143-13C>T	ENSP00000430740.2:n.2143-13C>T
ENST00000681998.1:c.2063-13C>T	ENSP00000506773.1:n.2063-13C>T
ENST00000682036.1:c.1483-13C>T	ENSP00000508390.1:n.1483-13C>T
ENST00000682577.1:c.2015-13C>T	ENSP00000506963.1:n.2015-13C>T
ENST00000682624.1:c.*1816-13C>T	ENSP00000508343.1:n.*1816-13C>T
ENST00000682700.1:c.2242-13C>T	ENSP00000507627.1:n.2242-13C>T
ENST00000682744.1:n.1780-13C>T
ENST00000682804.1:n.2065-13C>T
ENST00000682837.1:c.1731-13C>T	ENSP00000507920.1:n.1731-13C>T
ENST00000682935.1:n.4292-13C>T
ENST00000682984.1:c.1903-13C>T	ENSP00000507209.1:n.1903-13C>T
ENST00000683078.1:c.1997-13C>T	ENSP00000506796.1:n.1997-13C>T
ENST00000683223.1:c.1974-13C>T	ENSP00000507685.1:n.1974-13C>T
ENST00000683238.1:n.3466-13C>T
ENST00000683249.1:n.3839-13C>T
ENST00000683336.1:c.2063-13C>T	ENSP00000507695.1:n.2063-13C>T
ENST00000683362.1:c.1903-13C>T	ENSP00000506985.1:n.1903-13C>T
ENST00000683850.1:n.2165-13C>T
ENST00000683919.1:c.2172-13C>T	ENSP00000507617.1:n.2172-13C>T
ENST00000683953.1:c.2153-13C>T	ENSP00000508375.1:n.2153-13C>T
ENST00000684023.1:c.2219-13C>T	ENSP00000507461.1:n.2219-13C>T
ENST00000684064.1:c.1933-13C>T	ENSP00000508192.1:n.1933-13C>T
ENST00000684089.1:n.3792-13C>T
ENST00000684149.1:c.*1421-13C>T	ENSP00000507943.1:n.*1421-13C>T
ENST00000684343.1:c.439-13C>T	ENSP00000507591.1:n.439-13C>T
ENST00000684416.1:n.2201-13C>T
ENST00000684540.1:c.2172-13C>T	ENSP00000507987.1:n.2172-13C>T
ENST00000453321.8:c.2242-13C>T MANE Select	ENSP00000389998.3:n.2242-13C>T
ENST00000323130.7:c.2212-13C>T	ENSP00000314488.3:n.2212-13C>T
ENST00000409623.7:c.1999-13C>T	ENSP00000386966.3:n.1999-13C>T
ENST00000453321.7:c.2242-13C>T	ENSP00000389998.3:n.2242-13C>T
ENST00000474944.5:n.1380-13C>T
ENST00000519845.5:n.974-13C>T
NM_001142301.1:c.1999-13C>T , LRG_688t2:c.1999-13C>T	NP_001135773.1:n.1999-13C>T
NM_153704.5:c.2242-13C>T , LRG_688t1:c.2242-13C>T	NP_714915.3:n.2242-13C>T
NR_024522.1:n.2313-13C>T
XM_006716686.2:c.1939-13C>T	XP_006716749.1:n.1939-13C>T
XM_006716687.2:c.1642-13C>T	XP_006716750.1:n.1642-13C>T
XM_011517363.1:c.1360-13C>T	XP_011515665.1:n.1360-13C>T
XR_428387.1:n.2300-13C>T
XR_928360.1:n.2300-13C>T
XR_928361.1:n.2300-13C>T
XR_928362.1:n.2300-13C>T
XM_006716686.4:c.1939-13C>T	XP_006716749.1:n.1939-13C>T
XM_011517363.3:c.1360-13C>T	XP_011515665.1:n.1360-13C>T
XM_024447326.1:c.1588-13C>T	XP_024303094.1:n.1588-13C>T
XR_001745619.2:n.2283-13C>T
XR_428387.2:n.2283-13C>T
XR_928360.3:n.2283-13C>T
XR_928362.3:n.2283-13C>T
NM_153704.6:c.2242-13C>T MANE Select	NP_714915.3:n.2242-13C>T
NR_024522.2:n.2263-13C>T