Canonical Allele Identifier: CA371698903

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808858-A-G
• MyVariant Identifiers: chr8:g.94821086A>G (hg19) ; chr8:g.93808858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808858A>G , CM000670.2:g.93808858A>G	GRCh38
NC_000008.10:g.94821086A>G , CM000670.1:g.94821086A>G	GRCh37
NC_000008.9:g.94890262A>G	NCBI36
NG_009190.1:g.59015A>G , LRG_688:g.59015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2458A>G	ENSP00000314488.4:p.Arg820Gly
ENST00000409623.8:c.2413A>G	ENSP00000386966.4:p.Arg805Gly
ENST00000452276.6:c.2341A>G	ENSP00000388671.2:p.Arg781Gly
ENST00000453906.6:c.1576A>G	ENSP00000403035.2:p.Arg526Gly
ENST00000518896.2:c.749A>G	ENSP00000507992.1:n.749A>G
ENST00000520680.2:c.2581A>G	ENSP00000428785.2:p.Arg861Gly
ENST00000521517.6:c.2359A>G	ENSP00000430740.2:p.Arg787Gly
ENST00000681998.1:c.2279A>G	ENSP00000506773.1:n.2279A>G
ENST00000682036.1:c.1699A>G	ENSP00000508390.1:p.Arg567Gly
ENST00000682577.1:c.2231A>G	ENSP00000506963.1:n.2231A>G
ENST00000682624.1:c.*2032A>G	ENSP00000508343.1:n.*2032A>G
ENST00000682700.1:c.2458A>G	ENSP00000507627.1:p.Arg820Gly
ENST00000682744.1:n.1996A>G
ENST00000682804.1:n.2281A>G
ENST00000682837.1:c.1947A>G	ENSP00000507920.1:n.1947A>G
ENST00000682935.1:n.4508A>G
ENST00000682984.1:c.2119A>G	ENSP00000507209.1:p.Arg707Gly
ENST00000683078.1:c.2213A>G	ENSP00000506796.1:n.2213A>G
ENST00000683223.1:c.2190A>G	ENSP00000507685.1:n.2190A>G
ENST00000683238.1:n.3682A>G
ENST00000683249.1:n.4055A>G
ENST00000683336.1:c.2279A>G	ENSP00000507695.1:n.2279A>G
ENST00000683362.1:c.2119A>G	ENSP00000506985.1:p.Arg707Gly
ENST00000683850.1:n.2381A>G
ENST00000683919.1:c.2388A>G	ENSP00000507617.1:n.2388A>G
ENST00000683953.1:c.2369A>G	ENSP00000508375.1:n.2369A>G
ENST00000684023.1:c.2435A>G	ENSP00000507461.1:n.2435A>G
ENST00000684064.1:c.2149A>G	ENSP00000508192.1:p.Arg717Gly
ENST00000684089.1:n.4008A>G
ENST00000684149.1:c.*1637A>G	ENSP00000507943.1:n.*1637A>G
ENST00000684343.1:c.655A>G	ENSP00000507591.1:p.Arg219Gly
ENST00000684416.1:n.2417A>G
ENST00000684540.1:c.2388A>G	ENSP00000507987.1:n.2388A>G
ENST00000453321.8:c.2458A>G MANE Select	ENSP00000389998.3:p.Arg820Gly
ENST00000323130.7:c.2428A>G	ENSP00000314488.3:p.Arg810Gly
ENST00000409623.7:c.2215A>G	ENSP00000386966.3:p.Arg739Gly
ENST00000453321.7:c.2458A>G	ENSP00000389998.3:p.Arg820Gly
ENST00000474944.5:n.1596A>G
ENST00000519845.5:n.1190A>G
NM_001142301.1:c.2215A>G , LRG_688t2:c.2215A>G	NP_001135773.1:p.Arg739Gly
NM_153704.5:c.2458A>G , LRG_688t1:c.2458A>G	NP_714915.3:p.Arg820Gly
NR_024522.1:n.2529A>G
XM_006716686.2:c.2155A>G	XP_006716749.1:p.Arg719Gly
XM_006716687.2:c.1858A>G	XP_006716750.1:p.Arg620Gly
XM_011517363.1:c.1576A>G	XP_011515665.1:p.Arg526Gly
XR_428387.1:n.2516A>G
XR_928360.1:n.2516A>G
XR_928361.1:n.2516A>G
XR_928362.1:n.2516A>G
XM_006716686.4:c.2155A>G	XP_006716749.1:p.Arg719Gly
XM_011517363.3:c.1576A>G	XP_011515665.1:p.Arg526Gly
XM_024447326.1:c.1804A>G	XP_024303094.1:p.Arg602Gly
XR_001745619.2:n.2499A>G
XR_428387.2:n.2499A>G
XR_928360.3:n.2499A>G
XR_928362.3:n.2499A>G
NM_153704.6:c.2458A>G MANE Select	NP_714915.3:p.Arg820Gly
NR_024522.2:n.2479A>G