Canonical Allele Identifier: CA371688532

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780979-C-G
• MyVariant Identifiers: chr8:g.94793207C>G (hg19) ; chr8:g.93780979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780979C>G , CM000670.2:g.93780979C>G	GRCh38
NC_000008.10:g.94793207C>G , CM000670.1:g.94793207C>G	GRCh37
NC_000008.9:g.94862383C>G	NCBI36
NG_009190.1:g.31136C>G , LRG_688:g.31136C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.975C>G	ENSP00000314488.4:p.Asn325Lys
ENST00000409623.8:c.975C>G	ENSP00000386966.4:p.Asn325Lys
ENST00000452276.6:c.975C>G	ENSP00000388671.2:p.Asn325Lys
ENST00000453906.6:c.407-5244C>G	ENSP00000403035.2:n.407-5244C>G
ENST00000520680.2:c.975C>G	ENSP00000428785.2:p.Asn325Lys
ENST00000521065.2:c.*692C>G	ENSP00000427947.2:n.*692C>G
ENST00000521517.6:c.975C>G	ENSP00000430740.2:p.Asn325Lys
ENST00000681998.1:c.799+232C>G	ENSP00000506773.1:n.799+232C>G
ENST00000682036.1:c.407-5244C>G	ENSP00000508390.1:n.407-5244C>G
ENST00000682577.1:c.905C>G	ENSP00000506963.1:n.905C>G
ENST00000682624.1:c.*549C>G	ENSP00000508343.1:n.*549C>G
ENST00000682700.1:c.975C>G	ENSP00000507627.1:p.Asn325Lys
ENST00000682744.1:n.513C>G
ENST00000682804.1:n.798C>G
ENST00000682837.1:c.624+232C>G	ENSP00000507920.1:n.624+232C>G
ENST00000682935.1:n.2535C>G
ENST00000682984.1:c.636C>G	ENSP00000507209.1:p.Asn212Lys
ENST00000683078.1:c.730C>G	ENSP00000506796.1:n.730C>G
ENST00000683223.1:c.710+232C>G	ENSP00000507685.1:n.710+232C>G
ENST00000683238.1:n.2356C>G
ENST00000683249.1:n.2572C>G
ENST00000683336.1:c.799+232C>G	ENSP00000507695.1:n.799+232C>G
ENST00000683362.1:c.636C>G	ENSP00000506985.1:p.Asn212Lys
ENST00000683850.1:n.898C>G
ENST00000683919.1:c.905C>G	ENSP00000507617.1:n.905C>G
ENST00000683953.1:c.886C>G	ENSP00000508375.1:n.886C>G
ENST00000684023.1:c.1109C>G	ENSP00000507461.1:n.1109C>G
ENST00000684064.1:c.666C>G	ENSP00000508192.1:p.Asn222Lys
ENST00000684089.1:n.2525C>G
ENST00000684149.1:c.*311C>G	ENSP00000507943.1:n.*311C>G
ENST00000684416.1:n.934C>G
ENST00000684540.1:c.905C>G	ENSP00000507987.1:n.905C>G
ENST00000453321.8:c.975C>G MANE Select	ENSP00000389998.3:p.Asn325Lys
ENST00000323130.7:c.945C>G	ENSP00000314488.3:p.Asn315Lys
ENST00000409623.7:c.732C>G	ENSP00000386966.3:p.Asn244Lys
ENST00000425545.2:n.422C>G
ENST00000452276.5:c.666C>G	ENSP00000388671.1:p.Asn222Lys
ENST00000453321.7:c.975C>G	ENSP00000389998.3:p.Asn325Lys
ENST00000453906.5:c.407-5244C>G	ENSP00000403035.1:n.407-5244C>G
ENST00000474944.5:n.427-5244C>G
NM_001142301.1:c.732C>G , LRG_688t2:c.732C>G	NP_001135773.1:p.Asn244Lys
NM_153704.5:c.975C>G , LRG_688t1:c.975C>G	NP_714915.3:p.Asn325Lys
NR_024522.1:n.1046C>G
XM_006716686.2:c.672C>G	XP_006716749.1:p.Asn224Lys
XM_006716687.2:c.375C>G	XP_006716750.1:p.Asn125Lys
XM_011517363.1:c.407-5244C>G	XP_011515665.1:n.407-5244C>G
XR_428387.1:n.1033C>G
XR_928360.1:n.1033C>G
XR_928361.1:n.1033C>G
XR_928362.1:n.1033C>G
XM_006716686.4:c.672C>G	XP_006716749.1:p.Asn224Lys
XM_011517363.3:c.407-5244C>G	XP_011515665.1:n.407-5244C>G
XM_024447326.1:c.321C>G	XP_024303094.1:p.Asn107Lys
XR_001745619.2:n.1016C>G
XR_428387.2:n.1016C>G
XR_928360.3:n.1016C>G
XR_928362.3:n.1016C>G
NM_153704.6:c.975C>G MANE Select	NP_714915.3:p.Asn325Lys
NR_024522.2:n.996C>G