Canonical Allele Identifier: CA2687923081

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808830-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808830A>T , CM000670.2:g.93808830A>T	GRCh38
NC_000008.10:g.94821058A>T , CM000670.1:g.94821058A>T	GRCh37
NC_000008.9:g.94890234A>T	NCBI36
NG_009190.1:g.58987A>T , LRG_688:g.58987A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2440-10A>T	ENSP00000314488.4:n.2440-10A>T
ENST00000409623.8:c.2395-10A>T	ENSP00000386966.4:n.2395-10A>T
ENST00000452276.6:c.2323-10A>T	ENSP00000388671.2:n.2323-10A>T
ENST00000453906.6:c.1558-10A>T	ENSP00000403035.2:n.1558-10A>T
ENST00000518896.2:c.731-10A>T	ENSP00000507992.1:n.731-10A>T
ENST00000520680.2:c.2563-10A>T	ENSP00000428785.2:n.2563-10A>T
ENST00000521517.6:c.2341-10A>T	ENSP00000430740.2:n.2341-10A>T
ENST00000681998.1:c.2261-10A>T	ENSP00000506773.1:n.2261-10A>T
ENST00000682036.1:c.1681-10A>T	ENSP00000508390.1:n.1681-10A>T
ENST00000682577.1:c.2213-10A>T	ENSP00000506963.1:n.2213-10A>T
ENST00000682624.1:c.*2014-10A>T	ENSP00000508343.1:n.*2014-10A>T
ENST00000682700.1:c.2440-10A>T	ENSP00000507627.1:n.2440-10A>T
ENST00000682744.1:n.1978-10A>T
ENST00000682804.1:n.2263-10A>T
ENST00000682837.1:c.1929-10A>T	ENSP00000507920.1:n.1929-10A>T
ENST00000682935.1:n.4490-10A>T
ENST00000682984.1:c.2101-10A>T	ENSP00000507209.1:n.2101-10A>T
ENST00000683078.1:c.2195-10A>T	ENSP00000506796.1:n.2195-10A>T
ENST00000683223.1:c.2172-10A>T	ENSP00000507685.1:n.2172-10A>T
ENST00000683238.1:n.3664-10A>T
ENST00000683249.1:n.4037-10A>T
ENST00000683336.1:c.2261-10A>T	ENSP00000507695.1:n.2261-10A>T
ENST00000683362.1:c.2101-10A>T	ENSP00000506985.1:n.2101-10A>T
ENST00000683850.1:n.2363-10A>T
ENST00000683919.1:c.2370-10A>T	ENSP00000507617.1:n.2370-10A>T
ENST00000683953.1:c.2351-10A>T	ENSP00000508375.1:n.2351-10A>T
ENST00000684023.1:c.2417-10A>T	ENSP00000507461.1:n.2417-10A>T
ENST00000684064.1:c.2131-10A>T	ENSP00000508192.1:n.2131-10A>T
ENST00000684089.1:n.3990-10A>T
ENST00000684149.1:c.*1619-10A>T	ENSP00000507943.1:n.*1619-10A>T
ENST00000684343.1:c.637-10A>T	ENSP00000507591.1:n.637-10A>T
ENST00000684416.1:n.2399-10A>T
ENST00000684540.1:c.2370-10A>T	ENSP00000507987.1:n.2370-10A>T
ENST00000453321.8:c.2440-10A>T MANE Select	ENSP00000389998.3:n.2440-10A>T
ENST00000323130.7:c.2410-10A>T	ENSP00000314488.3:n.2410-10A>T
ENST00000409623.7:c.2197-10A>T	ENSP00000386966.3:n.2197-10A>T
ENST00000453321.7:c.2440-10A>T	ENSP00000389998.3:n.2440-10A>T
ENST00000474944.5:n.1578-10A>T
ENST00000519845.5:n.1172-10A>T
NM_001142301.1:c.2197-10A>T , LRG_688t2:c.2197-10A>T	NP_001135773.1:n.2197-10A>T
NM_153704.5:c.2440-10A>T , LRG_688t1:c.2440-10A>T	NP_714915.3:n.2440-10A>T
NR_024522.1:n.2511-10A>T
XM_006716686.2:c.2137-10A>T	XP_006716749.1:n.2137-10A>T
XM_006716687.2:c.1840-10A>T	XP_006716750.1:n.1840-10A>T
XM_011517363.1:c.1558-10A>T	XP_011515665.1:n.1558-10A>T
XR_428387.1:n.2498-10A>T
XR_928360.1:n.2498-10A>T
XR_928361.1:n.2498-10A>T
XR_928362.1:n.2498-10A>T
XM_006716686.4:c.2137-10A>T	XP_006716749.1:n.2137-10A>T
XM_011517363.3:c.1558-10A>T	XP_011515665.1:n.1558-10A>T
XM_024447326.1:c.1786-10A>T	XP_024303094.1:n.1786-10A>T
XR_001745619.2:n.2481-10A>T
XR_428387.2:n.2481-10A>T
XR_928360.3:n.2481-10A>T
XR_928362.3:n.2481-10A>T
NM_153704.6:c.2440-10A>T MANE Select	NP_714915.3:n.2440-10A>T
NR_024522.2:n.2461-10A>T