Canonical Allele Identifier: CA371698983

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821110G>T (hg19) ; chr8:g.93808882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808882G>T , CM000670.2:g.93808882G>T	GRCh38
NC_000008.10:g.94821110G>T , CM000670.1:g.94821110G>T	GRCh37
NC_000008.9:g.94890286G>T	NCBI36
NG_009190.1:g.59039G>T , LRG_688:g.59039G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2482G>T	ENSP00000314488.4:p.Gly828Cys
ENST00000409623.8:c.2437G>T	ENSP00000386966.4:p.Gly813Cys
ENST00000452276.6:c.2365G>T	ENSP00000388671.2:p.Gly789Cys
ENST00000453906.6:c.1600G>T	ENSP00000403035.2:p.Gly534Cys
ENST00000518896.2:c.773G>T	ENSP00000507992.1:n.773G>T
ENST00000520680.2:c.2605G>T	ENSP00000428785.2:p.Gly869Cys
ENST00000521517.6:c.2383G>T	ENSP00000430740.2:p.Gly795Cys
ENST00000681998.1:c.2303G>T	ENSP00000506773.1:n.2303G>T
ENST00000682036.1:c.1723G>T	ENSP00000508390.1:p.Gly575Cys
ENST00000682577.1:c.2255G>T	ENSP00000506963.1:n.2255G>T
ENST00000682624.1:c.*2056G>T	ENSP00000508343.1:n.*2056G>T
ENST00000682700.1:c.2482G>T	ENSP00000507627.1:p.Gly828Cys
ENST00000682744.1:n.2020G>T
ENST00000682804.1:n.2305G>T
ENST00000682837.1:c.1971G>T	ENSP00000507920.1:n.1971G>T
ENST00000682935.1:n.4532G>T
ENST00000682984.1:c.2143G>T	ENSP00000507209.1:p.Gly715Cys
ENST00000683078.1:c.2237G>T	ENSP00000506796.1:n.2237G>T
ENST00000683223.1:c.2214G>T	ENSP00000507685.1:n.2214G>T
ENST00000683238.1:n.3706G>T
ENST00000683249.1:n.4079G>T
ENST00000683336.1:c.2303G>T	ENSP00000507695.1:n.2303G>T
ENST00000683362.1:c.2143G>T	ENSP00000506985.1:p.Gly715Cys
ENST00000683850.1:n.2405G>T
ENST00000683919.1:c.2412G>T	ENSP00000507617.1:n.2412G>T
ENST00000683953.1:c.2393G>T	ENSP00000508375.1:n.2393G>T
ENST00000684023.1:c.2459G>T	ENSP00000507461.1:n.2459G>T
ENST00000684064.1:c.2173G>T	ENSP00000508192.1:p.Gly725Cys
ENST00000684089.1:n.4032G>T
ENST00000684149.1:c.*1661G>T	ENSP00000507943.1:n.*1661G>T
ENST00000684343.1:c.679G>T	ENSP00000507591.1:p.Gly227Cys
ENST00000684416.1:n.2441G>T
ENST00000684540.1:c.2412G>T	ENSP00000507987.1:n.2412G>T
ENST00000453321.8:c.2482G>T MANE Select	ENSP00000389998.3:p.Gly828Cys
ENST00000323130.7:c.2452G>T	ENSP00000314488.3:p.Gly818Cys
ENST00000409623.7:c.2239G>T	ENSP00000386966.3:p.Gly747Cys
ENST00000453321.7:c.2482G>T	ENSP00000389998.3:p.Gly828Cys
ENST00000474944.5:n.1620G>T
ENST00000519845.5:n.1214G>T
NM_001142301.1:c.2239G>T , LRG_688t2:c.2239G>T	NP_001135773.1:p.Gly747Cys
NM_153704.5:c.2482G>T , LRG_688t1:c.2482G>T	NP_714915.3:p.Gly828Cys
NR_024522.1:n.2553G>T
XM_006716686.2:c.2179G>T	XP_006716749.1:p.Gly727Cys
XM_006716687.2:c.1882G>T	XP_006716750.1:p.Gly628Cys
XM_011517363.1:c.1600G>T	XP_011515665.1:p.Gly534Cys
XR_428387.1:n.2540G>T
XR_928360.1:n.2540G>T
XR_928361.1:n.2540G>T
XR_928362.1:n.2540G>T
XM_006716686.4:c.2179G>T	XP_006716749.1:p.Gly727Cys
XM_011517363.3:c.1600G>T	XP_011515665.1:p.Gly534Cys
XM_024447326.1:c.1828G>T	XP_024303094.1:p.Gly610Cys
XR_001745619.2:n.2523G>T
XR_428387.2:n.2523G>T
XR_928360.3:n.2523G>T
XR_928362.3:n.2523G>T
NM_153704.6:c.2482G>T MANE Select	NP_714915.3:p.Gly828Cys
NR_024522.2:n.2503G>T