Canonical Allele Identifier: CA461867401

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808857-G-A
• MyVariant Identifiers: chr8:g.94821085G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808857G>A , CM000670.2:g.93808857G>A	GRCh38
NC_000008.10:g.94821085G>A , CM000670.1:g.94821085G>A	GRCh37
NC_000008.9:g.94890261G>A	NCBI36
NG_009190.1:g.59014G>A , LRG_688:g.59014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2457G>A	ENSP00000314488.4:p.Gln819=
ENST00000409623.8:c.2412G>A	ENSP00000386966.4:p.Gln804=
ENST00000452276.6:c.2340G>A	ENSP00000388671.2:p.Gln780=
ENST00000453906.6:c.1575G>A	ENSP00000403035.2:p.Gln525=
ENST00000518896.2:c.748G>A	ENSP00000507992.1:n.748G>A
ENST00000520680.2:c.2580G>A	ENSP00000428785.2:p.Gln860=
ENST00000521517.6:c.2358G>A	ENSP00000430740.2:p.Gln786=
ENST00000681998.1:c.2278G>A	ENSP00000506773.1:n.2278G>A
ENST00000682036.1:c.1698G>A	ENSP00000508390.1:p.Gln566=
ENST00000682577.1:c.2230G>A	ENSP00000506963.1:n.2230G>A
ENST00000682624.1:c.*2031G>A	ENSP00000508343.1:n.*2031G>A
ENST00000682700.1:c.2457G>A	ENSP00000507627.1:p.Gln819=
ENST00000682744.1:n.1995G>A
ENST00000682804.1:n.2280G>A
ENST00000682837.1:c.1946G>A	ENSP00000507920.1:n.1946G>A
ENST00000682935.1:n.4507G>A
ENST00000682984.1:c.2118G>A	ENSP00000507209.1:p.Gln706=
ENST00000683078.1:c.2212G>A	ENSP00000506796.1:n.2212G>A
ENST00000683223.1:c.2189G>A	ENSP00000507685.1:n.2189G>A
ENST00000683238.1:n.3681G>A
ENST00000683249.1:n.4054G>A
ENST00000683336.1:c.2278G>A	ENSP00000507695.1:n.2278G>A
ENST00000683362.1:c.2118G>A	ENSP00000506985.1:p.Gln706=
ENST00000683850.1:n.2380G>A
ENST00000683919.1:c.2387G>A	ENSP00000507617.1:n.2387G>A
ENST00000683953.1:c.2368G>A	ENSP00000508375.1:n.2368G>A
ENST00000684023.1:c.2434G>A	ENSP00000507461.1:n.2434G>A
ENST00000684064.1:c.2148G>A	ENSP00000508192.1:p.Gln716=
ENST00000684089.1:n.4007G>A
ENST00000684149.1:c.*1636G>A	ENSP00000507943.1:n.*1636G>A
ENST00000684343.1:c.654G>A	ENSP00000507591.1:p.Gln218=
ENST00000684416.1:n.2416G>A
ENST00000684540.1:c.2387G>A	ENSP00000507987.1:n.2387G>A
ENST00000453321.8:c.2457G>A MANE Select	ENSP00000389998.3:p.Gln819=
ENST00000323130.7:c.2427G>A	ENSP00000314488.3:p.Gln809=
ENST00000409623.7:c.2214G>A	ENSP00000386966.3:p.Gln738=
ENST00000453321.7:c.2457G>A	ENSP00000389998.3:p.Gln819=
ENST00000474944.5:n.1595G>A
ENST00000519845.5:n.1189G>A
NM_001142301.1:c.2214G>A , LRG_688t2:c.2214G>A	NP_001135773.1:p.Gln738=
NM_153704.5:c.2457G>A , LRG_688t1:c.2457G>A	NP_714915.3:p.Gln819=
NR_024522.1:n.2528G>A
XM_006716686.2:c.2154G>A	XP_006716749.1:p.Gln718=
XM_006716687.2:c.1857G>A	XP_006716750.1:p.Gln619=
XM_011517363.1:c.1575G>A	XP_011515665.1:p.Gln525=
XR_428387.1:n.2515G>A
XR_928360.1:n.2515G>A
XR_928361.1:n.2515G>A
XR_928362.1:n.2515G>A
XM_006716686.4:c.2154G>A	XP_006716749.1:p.Gln718=
XM_011517363.3:c.1575G>A	XP_011515665.1:p.Gln525=
XM_024447326.1:c.1803G>A	XP_024303094.1:p.Gln601=
XR_001745619.2:n.2498G>A
XR_428387.2:n.2498G>A
XR_928360.3:n.2498G>A
XR_928362.3:n.2498G>A
NM_153704.6:c.2457G>A MANE Select	NP_714915.3:p.Gln819=
NR_024522.2:n.2478G>A