Canonical Allele Identifier: CA371699013

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821121T>G (hg19) ; chr8:g.93808893T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808893T>G , CM000670.2:g.93808893T>G	GRCh38
NC_000008.10:g.94821121T>G , CM000670.1:g.94821121T>G	GRCh37
NC_000008.9:g.94890297T>G	NCBI36
NG_009190.1:g.59050T>G , LRG_688:g.59050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2493T>G	ENSP00000314488.4:p.Phe831Leu
ENST00000409623.8:c.2448T>G	ENSP00000386966.4:p.Phe816Leu
ENST00000452276.6:c.2376T>G	ENSP00000388671.2:p.Phe792Leu
ENST00000453906.6:c.1611T>G	ENSP00000403035.2:p.Phe537Leu
ENST00000518896.2:c.784T>G	ENSP00000507992.1:n.784T>G
ENST00000520680.2:c.2616T>G	ENSP00000428785.2:p.Phe872Leu
ENST00000521517.6:c.2394T>G	ENSP00000430740.2:p.Phe798Leu
ENST00000681998.1:c.2314T>G	ENSP00000506773.1:n.2314T>G
ENST00000682036.1:c.1734T>G	ENSP00000508390.1:p.Phe578Leu
ENST00000682577.1:c.2266T>G	ENSP00000506963.1:n.2266T>G
ENST00000682624.1:c.*2067T>G	ENSP00000508343.1:n.*2067T>G
ENST00000682700.1:c.2493T>G	ENSP00000507627.1:p.Phe831Leu
ENST00000682744.1:n.2031T>G
ENST00000682804.1:n.2316T>G
ENST00000682837.1:c.1982T>G	ENSP00000507920.1:n.1982T>G
ENST00000682935.1:n.4543T>G
ENST00000682984.1:c.2154T>G	ENSP00000507209.1:p.Phe718Leu
ENST00000683078.1:c.2248T>G	ENSP00000506796.1:n.2248T>G
ENST00000683223.1:c.2225T>G	ENSP00000507685.1:n.2225T>G
ENST00000683238.1:n.3717T>G
ENST00000683249.1:n.4090T>G
ENST00000683336.1:c.2314T>G	ENSP00000507695.1:n.2314T>G
ENST00000683362.1:c.2154T>G	ENSP00000506985.1:p.Phe718Leu
ENST00000683850.1:n.2416T>G
ENST00000683919.1:c.2423T>G	ENSP00000507617.1:n.2423T>G
ENST00000683953.1:c.2404T>G	ENSP00000508375.1:n.2404T>G
ENST00000684023.1:c.2470T>G	ENSP00000507461.1:n.2470T>G
ENST00000684064.1:c.2184T>G	ENSP00000508192.1:p.Phe728Leu
ENST00000684089.1:n.4043T>G
ENST00000684149.1:c.*1672T>G	ENSP00000507943.1:n.*1672T>G
ENST00000684343.1:c.690T>G	ENSP00000507591.1:p.Phe230Leu
ENST00000684416.1:n.2452T>G
ENST00000684540.1:c.2423T>G	ENSP00000507987.1:n.2423T>G
ENST00000453321.8:c.2493T>G MANE Select	ENSP00000389998.3:p.Phe831Leu
ENST00000323130.7:c.2463T>G	ENSP00000314488.3:p.Phe821Leu
ENST00000409623.7:c.2250T>G	ENSP00000386966.3:p.Phe750Leu
ENST00000453321.7:c.2493T>G	ENSP00000389998.3:p.Phe831Leu
ENST00000474944.5:n.1631T>G
ENST00000519845.5:n.1225T>G
NM_001142301.1:c.2250T>G , LRG_688t2:c.2250T>G	NP_001135773.1:p.Phe750Leu
NM_153704.5:c.2493T>G , LRG_688t1:c.2493T>G	NP_714915.3:p.Phe831Leu
NR_024522.1:n.2564T>G
XM_006716686.2:c.2190T>G	XP_006716749.1:p.Phe730Leu
XM_006716687.2:c.1893T>G	XP_006716750.1:p.Phe631Leu
XM_011517363.1:c.1611T>G	XP_011515665.1:p.Phe537Leu
XR_428387.1:n.2551T>G
XR_928360.1:n.2551T>G
XR_928361.1:n.2551T>G
XR_928362.1:n.2551T>G
XM_006716686.4:c.2190T>G	XP_006716749.1:p.Phe730Leu
XM_011517363.3:c.1611T>G	XP_011515665.1:p.Phe537Leu
XM_024447326.1:c.1839T>G	XP_024303094.1:p.Phe613Leu
XR_001745619.2:n.2534T>G
XR_428387.2:n.2534T>G
XR_928360.3:n.2534T>G
XR_928362.3:n.2534T>G
NM_153704.6:c.2493T>G MANE Select	NP_714915.3:p.Phe831Leu
NR_024522.2:n.2514T>G