Canonical Allele Identifier: CA371698990

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 802424
• ClinVar RCV Id: RCV000988096
• dbSNP Id: rs1586090222
• MyVariant Identifiers: chr8:g.94821113C>G (hg19) ; chr8:g.93808885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808885C>G , CM000670.2:g.93808885C>G	GRCh38
NC_000008.10:g.94821113C>G , CM000670.1:g.94821113C>G	GRCh37
NC_000008.9:g.94890289C>G	NCBI36
NG_009190.1:g.59042C>G , LRG_688:g.59042C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2485C>G	ENSP00000314488.4:p.Gln829Glu
ENST00000409623.8:c.2440C>G	ENSP00000386966.4:p.Gln814Glu
ENST00000452276.6:c.2368C>G	ENSP00000388671.2:p.Gln790Glu
ENST00000453906.6:c.1603C>G	ENSP00000403035.2:p.Gln535Glu
ENST00000518896.2:c.776C>G	ENSP00000507992.1:n.776C>G
ENST00000520680.2:c.2608C>G	ENSP00000428785.2:p.Gln870Glu
ENST00000521517.6:c.2386C>G	ENSP00000430740.2:p.Gln796Glu
ENST00000681998.1:c.2306C>G	ENSP00000506773.1:n.2306C>G
ENST00000682036.1:c.1726C>G	ENSP00000508390.1:p.Gln576Glu
ENST00000682577.1:c.2258C>G	ENSP00000506963.1:n.2258C>G
ENST00000682624.1:c.*2059C>G	ENSP00000508343.1:n.*2059C>G
ENST00000682700.1:c.2485C>G	ENSP00000507627.1:p.Gln829Glu
ENST00000682744.1:n.2023C>G
ENST00000682804.1:n.2308C>G
ENST00000682837.1:c.1974C>G	ENSP00000507920.1:n.1974C>G
ENST00000682935.1:n.4535C>G
ENST00000682984.1:c.2146C>G	ENSP00000507209.1:p.Gln716Glu
ENST00000683078.1:c.2240C>G	ENSP00000506796.1:n.2240C>G
ENST00000683223.1:c.2217C>G	ENSP00000507685.1:n.2217C>G
ENST00000683238.1:n.3709C>G
ENST00000683249.1:n.4082C>G
ENST00000683336.1:c.2306C>G	ENSP00000507695.1:n.2306C>G
ENST00000683362.1:c.2146C>G	ENSP00000506985.1:p.Gln716Glu
ENST00000683850.1:n.2408C>G
ENST00000683919.1:c.2415C>G	ENSP00000507617.1:n.2415C>G
ENST00000683953.1:c.2396C>G	ENSP00000508375.1:n.2396C>G
ENST00000684023.1:c.2462C>G	ENSP00000507461.1:n.2462C>G
ENST00000684064.1:c.2176C>G	ENSP00000508192.1:p.Gln726Glu
ENST00000684089.1:n.4035C>G
ENST00000684149.1:c.*1664C>G	ENSP00000507943.1:n.*1664C>G
ENST00000684343.1:c.682C>G	ENSP00000507591.1:p.Gln228Glu
ENST00000684416.1:n.2444C>G
ENST00000684540.1:c.2415C>G	ENSP00000507987.1:n.2415C>G
ENST00000453321.8:c.2485C>G MANE Select	ENSP00000389998.3:p.Gln829Glu
ENST00000323130.7:c.2455C>G	ENSP00000314488.3:p.Gln819Glu
ENST00000409623.7:c.2242C>G	ENSP00000386966.3:p.Gln748Glu
ENST00000453321.7:c.2485C>G	ENSP00000389998.3:p.Gln829Glu
ENST00000474944.5:n.1623C>G
ENST00000519845.5:n.1217C>G
NM_001142301.1:c.2242C>G , LRG_688t2:c.2242C>G	NP_001135773.1:p.Gln748Glu
NM_153704.5:c.2485C>G , LRG_688t1:c.2485C>G	NP_714915.3:p.Gln829Glu
NR_024522.1:n.2556C>G
XM_006716686.2:c.2182C>G	XP_006716749.1:p.Gln728Glu
XM_006716687.2:c.1885C>G	XP_006716750.1:p.Gln629Glu
XM_011517363.1:c.1603C>G	XP_011515665.1:p.Gln535Glu
XR_428387.1:n.2543C>G
XR_928360.1:n.2543C>G
XR_928361.1:n.2543C>G
XR_928362.1:n.2543C>G
XM_006716686.4:c.2182C>G	XP_006716749.1:p.Gln728Glu
XM_011517363.3:c.1603C>G	XP_011515665.1:p.Gln535Glu
XM_024447326.1:c.1831C>G	XP_024303094.1:p.Gln611Glu
XR_001745619.2:n.2526C>G
XR_428387.2:n.2526C>G
XR_928360.3:n.2526C>G
XR_928362.3:n.2526C>G
NM_153704.6:c.2485C>G MANE Select	NP_714915.3:p.Gln829Glu
NR_024522.2:n.2506C>G