Canonical Allele Identifier: CA10625896

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 363926
• ClinVar RCV Id: RCV000266414 ; RCV000321504 ; RCV000361919
• dbSNP Id: rs201393025
• gnomAD v4: 8-93809070-C-G
• MyVariant Identifiers: chr8:g.94821298C>G (hg19) ; chr8:g.93809070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809070C>G , CM000670.2:g.93809070C>G	GRCh38
NC_000008.10:g.94821298C>G , CM000670.1:g.94821298C>G	GRCh37
NC_000008.9:g.94890474C>G	NCBI36
NG_009190.1:g.59227C>G , LRG_688:g.59227C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2570C>G	ENSP00000314488.4:p.Ala857Gly
ENST00000409623.8:c.2525C>G	ENSP00000386966.4:p.Ala842Gly
ENST00000452276.6:c.2453C>G	ENSP00000388671.2:p.Ala818Gly
ENST00000453906.6:c.1688C>G	ENSP00000403035.2:p.Ala563Gly
ENST00000518896.2:c.861C>G	ENSP00000507992.1:n.861C>G
ENST00000520680.2:c.2693C>G	ENSP00000428785.2:p.Ala898Gly
ENST00000521517.6:c.2471C>G	ENSP00000430740.2:p.Ala824Gly
ENST00000681998.1:c.2391C>G	ENSP00000506773.1:n.2391C>G
ENST00000682036.1:c.1811C>G	ENSP00000508390.1:p.Ala604Gly
ENST00000682577.1:c.2343C>G	ENSP00000506963.1:n.2343C>G
ENST00000682624.1:c.*2144C>G	ENSP00000508343.1:n.*2144C>G
ENST00000682700.1:c.2570C>G	ENSP00000507627.1:p.Ala857Gly
ENST00000682744.1:n.2108C>G
ENST00000682804.1:n.2393C>G
ENST00000682837.1:c.2059C>G	ENSP00000507920.1:n.2059C>G
ENST00000682935.1:n.4620C>G
ENST00000682984.1:c.2231C>G	ENSP00000507209.1:p.Ala744Gly
ENST00000683078.1:c.2325C>G	ENSP00000506796.1:n.2325C>G
ENST00000683223.1:c.2302C>G	ENSP00000507685.1:n.2302C>G
ENST00000683238.1:n.3794C>G
ENST00000683249.1:n.4167C>G
ENST00000683336.1:c.2391C>G	ENSP00000507695.1:n.2391C>G
ENST00000683362.1:c.2231C>G	ENSP00000506985.1:p.Ala744Gly
ENST00000683850.1:n.2493C>G
ENST00000683919.1:c.2500C>G	ENSP00000507617.1:n.2500C>G
ENST00000683953.1:c.2481C>G	ENSP00000508375.1:n.2481C>G
ENST00000684023.1:c.2547C>G	ENSP00000507461.1:n.2547C>G
ENST00000684064.1:c.2261C>G	ENSP00000508192.1:p.Ala754Gly
ENST00000684089.1:n.4120C>G
ENST00000684149.1:c.*1749C>G	ENSP00000507943.1:n.*1749C>G
ENST00000684343.1:c.767C>G	ENSP00000507591.1:p.Ala256Gly
ENST00000684416.1:n.2529C>G
ENST00000684540.1:c.2500C>G	ENSP00000507987.1:n.2500C>G
ENST00000453321.8:c.2570C>G MANE Select	ENSP00000389998.3:p.Ala857Gly
ENST00000323130.7:c.2540C>G	ENSP00000314488.3:p.Ala847Gly
ENST00000409623.7:c.2327C>G	ENSP00000386966.3:p.Ala776Gly
ENST00000453321.7:c.2570C>G	ENSP00000389998.3:p.Ala857Gly
ENST00000474944.5:n.1708C>G
ENST00000519845.5:n.1302C>G
NM_001142301.1:c.2327C>G , LRG_688t2:c.2327C>G	NP_001135773.1:p.Ala776Gly
NM_153704.5:c.2570C>G , LRG_688t1:c.2570C>G	NP_714915.3:p.Ala857Gly
NR_024522.1:n.2641C>G
XM_006716686.2:c.2267C>G	XP_006716749.1:p.Ala756Gly
XM_006716687.2:c.1970C>G	XP_006716750.1:p.Ala657Gly
XM_011517363.1:c.1688C>G	XP_011515665.1:p.Ala563Gly
XR_428387.1:n.2628C>G
XR_928360.1:n.2628C>G
XR_928361.1:n.2628C>G
XR_928362.1:n.2628C>G
XM_006716686.4:c.2267C>G	XP_006716749.1:p.Ala756Gly
XM_011517363.3:c.1688C>G	XP_011515665.1:p.Ala563Gly
XM_024447326.1:c.1916C>G	XP_024303094.1:p.Ala639Gly
XR_001745619.2:n.2611C>G
XR_428387.2:n.2611C>G
XR_928360.3:n.2611C>G
XR_928362.3:n.2611C>G
NM_153704.6:c.2570C>G MANE Select	NP_714915.3:p.Ala857Gly
NR_024522.2:n.2591C>G