Canonical Allele Identifier: CA461867480

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821299T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809071T>G , CM000670.2:g.93809071T>G	GRCh38
NC_000008.10:g.94821299T>G , CM000670.1:g.94821299T>G	GRCh37
NC_000008.9:g.94890475T>G	NCBI36
NG_009190.1:g.59228T>G , LRG_688:g.59228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2571T>G	ENSP00000314488.4:p.Ala857=
ENST00000409623.8:c.2526T>G	ENSP00000386966.4:p.Ala842=
ENST00000452276.6:c.2454T>G	ENSP00000388671.2:p.Ala818=
ENST00000453906.6:c.1689T>G	ENSP00000403035.2:p.Ala563=
ENST00000518896.2:c.862T>G	ENSP00000507992.1:n.862T>G
ENST00000520680.2:c.2694T>G	ENSP00000428785.2:p.Ala898=
ENST00000521517.6:c.2472T>G	ENSP00000430740.2:p.Ala824=
ENST00000681998.1:c.2392T>G	ENSP00000506773.1:n.2392T>G
ENST00000682036.1:c.1812T>G	ENSP00000508390.1:p.Ala604=
ENST00000682577.1:c.2344T>G	ENSP00000506963.1:n.2344T>G
ENST00000682624.1:c.*2145T>G	ENSP00000508343.1:n.*2145T>G
ENST00000682700.1:c.2571T>G	ENSP00000507627.1:p.Ala857=
ENST00000682744.1:n.2109T>G
ENST00000682804.1:n.2394T>G
ENST00000682837.1:c.2060T>G	ENSP00000507920.1:n.2060T>G
ENST00000682935.1:n.4621T>G
ENST00000682984.1:c.2232T>G	ENSP00000507209.1:p.Ala744=
ENST00000683078.1:c.2326T>G	ENSP00000506796.1:n.2326T>G
ENST00000683223.1:c.2303T>G	ENSP00000507685.1:n.2303T>G
ENST00000683238.1:n.3795T>G
ENST00000683249.1:n.4168T>G
ENST00000683336.1:c.2392T>G	ENSP00000507695.1:n.2392T>G
ENST00000683362.1:c.2232T>G	ENSP00000506985.1:p.Ala744=
ENST00000683850.1:n.2494T>G
ENST00000683919.1:c.2501T>G	ENSP00000507617.1:n.2501T>G
ENST00000683953.1:c.2482T>G	ENSP00000508375.1:n.2482T>G
ENST00000684023.1:c.2548T>G	ENSP00000507461.1:n.2548T>G
ENST00000684064.1:c.2262T>G	ENSP00000508192.1:p.Ala754=
ENST00000684089.1:n.4121T>G
ENST00000684149.1:c.*1750T>G	ENSP00000507943.1:n.*1750T>G
ENST00000684343.1:c.768T>G	ENSP00000507591.1:p.Ala256=
ENST00000684416.1:n.2530T>G
ENST00000684540.1:c.2501T>G	ENSP00000507987.1:n.2501T>G
ENST00000453321.8:c.2571T>G MANE Select	ENSP00000389998.3:p.Ala857=
ENST00000323130.7:c.2541T>G	ENSP00000314488.3:p.Ala847=
ENST00000409623.7:c.2328T>G	ENSP00000386966.3:p.Ala776=
ENST00000453321.7:c.2571T>G	ENSP00000389998.3:p.Ala857=
ENST00000474944.5:n.1709T>G
ENST00000519845.5:n.1303T>G
NM_001142301.1:c.2328T>G , LRG_688t2:c.2328T>G	NP_001135773.1:p.Ala776=
NM_153704.5:c.2571T>G , LRG_688t1:c.2571T>G	NP_714915.3:p.Ala857=
NR_024522.1:n.2642T>G
XM_006716686.2:c.2268T>G	XP_006716749.1:p.Ala756=
XM_006716687.2:c.1971T>G	XP_006716750.1:p.Ala657=
XM_011517363.1:c.1689T>G	XP_011515665.1:p.Ala563=
XR_428387.1:n.2629T>G
XR_928360.1:n.2629T>G
XR_928361.1:n.2629T>G
XR_928362.1:n.2629T>G
XM_006716686.4:c.2268T>G	XP_006716749.1:p.Ala756=
XM_011517363.3:c.1689T>G	XP_011515665.1:p.Ala563=
XM_024447326.1:c.1917T>G	XP_024303094.1:p.Ala639=
XR_001745619.2:n.2612T>G
XR_428387.2:n.2612T>G
XR_928360.3:n.2612T>G
XR_928362.3:n.2612T>G
NM_153704.6:c.2571T>G MANE Select	NP_714915.3:p.Ala857=
NR_024522.2:n.2592T>G