Canonical Allele Identifier: CA371698859

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821073T>G (hg19) ; chr8:g.93808845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808845T>G , CM000670.2:g.93808845T>G	GRCh38
NC_000008.10:g.94821073T>G , CM000670.1:g.94821073T>G	GRCh37
NC_000008.9:g.94890249T>G	NCBI36
NG_009190.1:g.59002T>G , LRG_688:g.59002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2445T>G	ENSP00000314488.4:p.Asn815Lys
ENST00000409623.8:c.2400T>G	ENSP00000386966.4:p.Asn800Lys
ENST00000452276.6:c.2328T>G	ENSP00000388671.2:p.Asn776Lys
ENST00000453906.6:c.1563T>G	ENSP00000403035.2:p.Asn521Lys
ENST00000518896.2:c.736T>G	ENSP00000507992.1:n.736T>G
ENST00000520680.2:c.2568T>G	ENSP00000428785.2:p.Asn856Lys
ENST00000521517.6:c.2346T>G	ENSP00000430740.2:p.Asn782Lys
ENST00000681998.1:c.2266T>G	ENSP00000506773.1:n.2266T>G
ENST00000682036.1:c.1686T>G	ENSP00000508390.1:p.Asn562Lys
ENST00000682577.1:c.2218T>G	ENSP00000506963.1:n.2218T>G
ENST00000682624.1:c.*2019T>G	ENSP00000508343.1:n.*2019T>G
ENST00000682700.1:c.2445T>G	ENSP00000507627.1:p.Asn815Lys
ENST00000682744.1:n.1983T>G
ENST00000682804.1:n.2268T>G
ENST00000682837.1:c.1934T>G	ENSP00000507920.1:n.1934T>G
ENST00000682935.1:n.4495T>G
ENST00000682984.1:c.2106T>G	ENSP00000507209.1:p.Asn702Lys
ENST00000683078.1:c.2200T>G	ENSP00000506796.1:n.2200T>G
ENST00000683223.1:c.2177T>G	ENSP00000507685.1:n.2177T>G
ENST00000683238.1:n.3669T>G
ENST00000683249.1:n.4042T>G
ENST00000683336.1:c.2266T>G	ENSP00000507695.1:n.2266T>G
ENST00000683362.1:c.2106T>G	ENSP00000506985.1:p.Asn702Lys
ENST00000683850.1:n.2368T>G
ENST00000683919.1:c.2375T>G	ENSP00000507617.1:n.2375T>G
ENST00000683953.1:c.2356T>G	ENSP00000508375.1:n.2356T>G
ENST00000684023.1:c.2422T>G	ENSP00000507461.1:n.2422T>G
ENST00000684064.1:c.2136T>G	ENSP00000508192.1:p.Asn712Lys
ENST00000684089.1:n.3995T>G
ENST00000684149.1:c.*1624T>G	ENSP00000507943.1:n.*1624T>G
ENST00000684343.1:c.642T>G	ENSP00000507591.1:p.Asn214Lys
ENST00000684416.1:n.2404T>G
ENST00000684540.1:c.2375T>G	ENSP00000507987.1:n.2375T>G
ENST00000453321.8:c.2445T>G MANE Select	ENSP00000389998.3:p.Asn815Lys
ENST00000323130.7:c.2415T>G	ENSP00000314488.3:p.Asn805Lys
ENST00000409623.7:c.2202T>G	ENSP00000386966.3:p.Asn734Lys
ENST00000453321.7:c.2445T>G	ENSP00000389998.3:p.Asn815Lys
ENST00000474944.5:n.1583T>G
ENST00000519845.5:n.1177T>G
NM_001142301.1:c.2202T>G , LRG_688t2:c.2202T>G	NP_001135773.1:p.Asn734Lys
NM_153704.5:c.2445T>G , LRG_688t1:c.2445T>G	NP_714915.3:p.Asn815Lys
NR_024522.1:n.2516T>G
XM_006716686.2:c.2142T>G	XP_006716749.1:p.Asn714Lys
XM_006716687.2:c.1845T>G	XP_006716750.1:p.Asn615Lys
XM_011517363.1:c.1563T>G	XP_011515665.1:p.Asn521Lys
XR_428387.1:n.2503T>G
XR_928360.1:n.2503T>G
XR_928361.1:n.2503T>G
XR_928362.1:n.2503T>G
XM_006716686.4:c.2142T>G	XP_006716749.1:p.Asn714Lys
XM_011517363.3:c.1563T>G	XP_011515665.1:p.Asn521Lys
XM_024447326.1:c.1791T>G	XP_024303094.1:p.Asn597Lys
XR_001745619.2:n.2486T>G
XR_428387.2:n.2486T>G
XR_928360.3:n.2486T>G
XR_928362.3:n.2486T>G
NM_153704.6:c.2445T>G MANE Select	NP_714915.3:p.Asn815Lys
NR_024522.2:n.2466T>G