Canonical Allele Identifier: CA371689791

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798529G>T (hg19) ; chr8:g.93786301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786301G>T , CM000670.2:g.93786301G>T	GRCh38
NC_000008.10:g.94798529G>T , CM000670.1:g.94798529G>T	GRCh37
NC_000008.9:g.94867705G>T	NCBI36
NG_009190.1:g.36458G>T , LRG_688:g.36458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1367G>T	ENSP00000314488.4:p.Gly456Val
ENST00000409623.8:c.1322G>T	ENSP00000386966.4:p.Gly441Val
ENST00000452276.6:c.1367G>T	ENSP00000388671.2:p.Gly456Val
ENST00000453906.6:c.485G>T	ENSP00000403035.2:p.Gly162Val
ENST00000520680.2:c.1367G>T	ENSP00000428785.2:p.Gly456Val
ENST00000521517.6:c.1367G>T	ENSP00000430740.2:p.Gly456Val
ENST00000681998.1:c.1188G>T	ENSP00000506773.1:n.1188G>T
ENST00000682036.1:c.485G>T	ENSP00000508390.1:p.Gly162Val
ENST00000682577.1:c.1140G>T	ENSP00000506963.1:n.1140G>T
ENST00000682624.1:c.*941G>T	ENSP00000508343.1:n.*941G>T
ENST00000682700.1:c.1367G>T	ENSP00000507627.1:p.Gly456Val
ENST00000682744.1:n.905G>T
ENST00000682804.1:n.1190G>T
ENST00000682837.1:c.856G>T	ENSP00000507920.1:n.856G>T
ENST00000682935.1:n.3417G>T
ENST00000682984.1:c.1028G>T	ENSP00000507209.1:p.Gly343Val
ENST00000683078.1:c.1122G>T	ENSP00000506796.1:n.1122G>T
ENST00000683223.1:c.1099G>T	ENSP00000507685.1:n.1099G>T
ENST00000683238.1:n.2591G>T
ENST00000683249.1:n.2964G>T
ENST00000683336.1:c.1188G>T	ENSP00000507695.1:n.1188G>T
ENST00000683362.1:c.1028G>T	ENSP00000506985.1:p.Gly343Val
ENST00000683850.1:n.1290G>T
ENST00000683919.1:c.1297G>T	ENSP00000507617.1:n.1297G>T
ENST00000683953.1:c.1278G>T	ENSP00000508375.1:n.1278G>T
ENST00000684023.1:c.1344G>T	ENSP00000507461.1:n.1344G>T
ENST00000684064.1:c.1058G>T	ENSP00000508192.1:p.Gly353Val
ENST00000684089.1:n.2917G>T
ENST00000684149.1:c.*546G>T	ENSP00000507943.1:n.*546G>T
ENST00000684416.1:n.1326G>T
ENST00000684540.1:c.1297G>T	ENSP00000507987.1:n.1297G>T
ENST00000453321.8:c.1367G>T MANE Select	ENSP00000389998.3:p.Gly456Val
ENST00000323130.7:c.1337G>T	ENSP00000314488.3:p.Gly446Val
ENST00000409623.7:c.1124G>T	ENSP00000386966.3:p.Gly375Val
ENST00000452276.5:c.1058G>T	ENSP00000388671.1:p.Gly353Val
ENST00000453321.7:c.1367G>T	ENSP00000389998.3:p.Gly456Val
ENST00000453906.5:c.485G>T	ENSP00000403035.1:p.Gly162Val
ENST00000474944.5:n.505G>T
ENST00000520680.1:c.189G>T
NM_001142301.1:c.1124G>T , LRG_688t2:c.1124G>T	NP_001135773.1:p.Gly375Val
NM_153704.5:c.1367G>T , LRG_688t1:c.1367G>T	NP_714915.3:p.Gly456Val
NR_024522.1:n.1438G>T
XM_006716686.2:c.1064G>T	XP_006716749.1:p.Gly355Val
XM_006716687.2:c.767G>T	XP_006716750.1:p.Gly256Val
XM_011517363.1:c.485G>T	XP_011515665.1:p.Gly162Val
XR_428387.1:n.1425G>T
XR_928360.1:n.1425G>T
XR_928361.1:n.1425G>T
XR_928362.1:n.1425G>T
XM_006716686.4:c.1064G>T	XP_006716749.1:p.Gly355Val
XM_011517363.3:c.485G>T	XP_011515665.1:p.Gly162Val
XM_024447326.1:c.713G>T	XP_024303094.1:p.Gly238Val
XR_001745619.2:n.1408G>T
XR_428387.2:n.1408G>T
XR_928360.3:n.1408G>T
XR_928362.3:n.1408G>T
NM_153704.6:c.1367G>T MANE Select	NP_714915.3:p.Gly456Val
NR_024522.2:n.1388G>T