Canonical Allele Identifier: CA371689835

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798553T>A (hg19) ; chr8:g.93786325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786325T>A , CM000670.2:g.93786325T>A	GRCh38
NC_000008.10:g.94798553T>A , CM000670.1:g.94798553T>A	GRCh37
NC_000008.9:g.94867729T>A	NCBI36
NG_009190.1:g.36482T>A , LRG_688:g.36482T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1391T>A	ENSP00000314488.4:p.Val464Asp
ENST00000409623.8:c.1346T>A	ENSP00000386966.4:p.Val449Asp
ENST00000452276.6:c.1391T>A	ENSP00000388671.2:p.Val464Asp
ENST00000453906.6:c.509T>A	ENSP00000403035.2:p.Val170Asp
ENST00000520680.2:c.1391T>A	ENSP00000428785.2:p.Val464Asp
ENST00000521517.6:c.1391T>A	ENSP00000430740.2:p.Val464Asp
ENST00000681998.1:c.1212T>A	ENSP00000506773.1:n.1212T>A
ENST00000682036.1:c.509T>A	ENSP00000508390.1:p.Val170Asp
ENST00000682577.1:c.1164T>A	ENSP00000506963.1:n.1164T>A
ENST00000682624.1:c.*965T>A	ENSP00000508343.1:n.*965T>A
ENST00000682700.1:c.1391T>A	ENSP00000507627.1:p.Val464Asp
ENST00000682744.1:n.929T>A
ENST00000682804.1:n.1214T>A
ENST00000682837.1:c.880T>A	ENSP00000507920.1:n.880T>A
ENST00000682935.1:n.3441T>A
ENST00000682984.1:c.1052T>A	ENSP00000507209.1:p.Val351Asp
ENST00000683078.1:c.1146T>A	ENSP00000506796.1:n.1146T>A
ENST00000683223.1:c.1123T>A	ENSP00000507685.1:n.1123T>A
ENST00000683238.1:n.2615T>A
ENST00000683249.1:n.2988T>A
ENST00000683336.1:c.1212T>A	ENSP00000507695.1:n.1212T>A
ENST00000683362.1:c.1052T>A	ENSP00000506985.1:p.Val351Asp
ENST00000683850.1:n.1314T>A
ENST00000683919.1:c.1321T>A	ENSP00000507617.1:n.1321T>A
ENST00000683953.1:c.1302T>A	ENSP00000508375.1:n.1302T>A
ENST00000684023.1:c.1368T>A	ENSP00000507461.1:n.1368T>A
ENST00000684064.1:c.1082T>A	ENSP00000508192.1:p.Val361Asp
ENST00000684089.1:n.2941T>A
ENST00000684149.1:c.*570T>A	ENSP00000507943.1:n.*570T>A
ENST00000684416.1:n.1350T>A
ENST00000684540.1:c.1321T>A	ENSP00000507987.1:n.1321T>A
ENST00000453321.8:c.1391T>A MANE Select	ENSP00000389998.3:p.Val464Asp
ENST00000323130.7:c.1361T>A	ENSP00000314488.3:p.Val454Asp
ENST00000409623.7:c.1148T>A	ENSP00000386966.3:p.Val383Asp
ENST00000452276.5:c.1082T>A	ENSP00000388671.1:p.Val361Asp
ENST00000453321.7:c.1391T>A	ENSP00000389998.3:p.Val464Asp
ENST00000453906.5:c.509T>A	ENSP00000403035.1:p.Val170Asp
ENST00000474944.5:n.529T>A
ENST00000520680.1:c.213T>A
NM_001142301.1:c.1148T>A , LRG_688t2:c.1148T>A	NP_001135773.1:p.Val383Asp
NM_153704.5:c.1391T>A , LRG_688t1:c.1391T>A	NP_714915.3:p.Val464Asp
NR_024522.1:n.1462T>A
XM_006716686.2:c.1088T>A	XP_006716749.1:p.Val363Asp
XM_006716687.2:c.791T>A	XP_006716750.1:p.Val264Asp
XM_011517363.1:c.509T>A	XP_011515665.1:p.Val170Asp
XR_428387.1:n.1449T>A
XR_928360.1:n.1449T>A
XR_928361.1:n.1449T>A
XR_928362.1:n.1449T>A
XM_006716686.4:c.1088T>A	XP_006716749.1:p.Val363Asp
XM_011517363.3:c.509T>A	XP_011515665.1:p.Val170Asp
XM_024447326.1:c.737T>A	XP_024303094.1:p.Val246Asp
XR_001745619.2:n.1432T>A
XR_428387.2:n.1432T>A
XR_928360.3:n.1432T>A
XR_928362.3:n.1432T>A
NM_153704.6:c.1391T>A MANE Select	NP_714915.3:p.Val464Asp
NR_024522.2:n.1412T>A