Canonical Allele Identifier: CA371698919

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821090G>T (hg19) ; chr8:g.93808862G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808862G>T , CM000670.2:g.93808862G>T	GRCh38
NC_000008.10:g.94821090G>T , CM000670.1:g.94821090G>T	GRCh37
NC_000008.9:g.94890266G>T	NCBI36
NG_009190.1:g.59019G>T , LRG_688:g.59019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2462G>T	ENSP00000314488.4:p.Gly821Val
ENST00000409623.8:c.2417G>T	ENSP00000386966.4:p.Gly806Val
ENST00000452276.6:c.2345G>T	ENSP00000388671.2:p.Gly782Val
ENST00000453906.6:c.1580G>T	ENSP00000403035.2:p.Gly527Val
ENST00000518896.2:c.753G>T	ENSP00000507992.1:n.753G>T
ENST00000520680.2:c.2585G>T	ENSP00000428785.2:p.Gly862Val
ENST00000521517.6:c.2363G>T	ENSP00000430740.2:p.Gly788Val
ENST00000681998.1:c.2283G>T	ENSP00000506773.1:n.2283G>T
ENST00000682036.1:c.1703G>T	ENSP00000508390.1:p.Gly568Val
ENST00000682577.1:c.2235G>T	ENSP00000506963.1:n.2235G>T
ENST00000682624.1:c.*2036G>T	ENSP00000508343.1:n.*2036G>T
ENST00000682700.1:c.2462G>T	ENSP00000507627.1:p.Gly821Val
ENST00000682744.1:n.2000G>T
ENST00000682804.1:n.2285G>T
ENST00000682837.1:c.1951G>T	ENSP00000507920.1:n.1951G>T
ENST00000682935.1:n.4512G>T
ENST00000682984.1:c.2123G>T	ENSP00000507209.1:p.Gly708Val
ENST00000683078.1:c.2217G>T	ENSP00000506796.1:n.2217G>T
ENST00000683223.1:c.2194G>T	ENSP00000507685.1:n.2194G>T
ENST00000683238.1:n.3686G>T
ENST00000683249.1:n.4059G>T
ENST00000683336.1:c.2283G>T	ENSP00000507695.1:n.2283G>T
ENST00000683362.1:c.2123G>T	ENSP00000506985.1:p.Gly708Val
ENST00000683850.1:n.2385G>T
ENST00000683919.1:c.2392G>T	ENSP00000507617.1:n.2392G>T
ENST00000683953.1:c.2373G>T	ENSP00000508375.1:n.2373G>T
ENST00000684023.1:c.2439G>T	ENSP00000507461.1:n.2439G>T
ENST00000684064.1:c.2153G>T	ENSP00000508192.1:p.Gly718Val
ENST00000684089.1:n.4012G>T
ENST00000684149.1:c.*1641G>T	ENSP00000507943.1:n.*1641G>T
ENST00000684343.1:c.659G>T	ENSP00000507591.1:p.Gly220Val
ENST00000684416.1:n.2421G>T
ENST00000684540.1:c.2392G>T	ENSP00000507987.1:n.2392G>T
ENST00000453321.8:c.2462G>T MANE Select	ENSP00000389998.3:p.Gly821Val
ENST00000323130.7:c.2432G>T	ENSP00000314488.3:p.Gly811Val
ENST00000409623.7:c.2219G>T	ENSP00000386966.3:p.Gly740Val
ENST00000453321.7:c.2462G>T	ENSP00000389998.3:p.Gly821Val
ENST00000474944.5:n.1600G>T
ENST00000519845.5:n.1194G>T
NM_001142301.1:c.2219G>T , LRG_688t2:c.2219G>T	NP_001135773.1:p.Gly740Val
NM_153704.5:c.2462G>T , LRG_688t1:c.2462G>T	NP_714915.3:p.Gly821Val
NR_024522.1:n.2533G>T
XM_006716686.2:c.2159G>T	XP_006716749.1:p.Gly720Val
XM_006716687.2:c.1862G>T	XP_006716750.1:p.Gly621Val
XM_011517363.1:c.1580G>T	XP_011515665.1:p.Gly527Val
XR_428387.1:n.2520G>T
XR_928360.1:n.2520G>T
XR_928361.1:n.2520G>T
XR_928362.1:n.2520G>T
XM_006716686.4:c.2159G>T	XP_006716749.1:p.Gly720Val
XM_011517363.3:c.1580G>T	XP_011515665.1:p.Gly527Val
XM_024447326.1:c.1808G>T	XP_024303094.1:p.Gly603Val
XR_001745619.2:n.2503G>T
XR_428387.2:n.2503G>T
XR_928360.3:n.2503G>T
XR_928362.3:n.2503G>T
NM_153704.6:c.2462G>T MANE Select	NP_714915.3:p.Gly821Val
NR_024522.2:n.2483G>T