Canonical Allele Identifier: CA371689946

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94800072T>A (hg19) ; chr8:g.93787844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93787844T>A , CM000670.2:g.93787844T>A	GRCh38
NC_000008.10:g.94800072T>A , CM000670.1:g.94800072T>A	GRCh37
NC_000008.9:g.94869248T>A	NCBI36
NG_009190.1:g.38001T>A , LRG_688:g.38001T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1413T>A	ENSP00000314488.4:p.Ser471Arg
ENST00000409623.8:c.1368T>A	ENSP00000386966.4:p.Ser456Arg
ENST00000452276.6:c.1413T>A	ENSP00000388671.2:p.Ser471Arg
ENST00000453906.6:c.531T>A	ENSP00000403035.2:p.Ser177Arg
ENST00000520680.2:c.1413T>A	ENSP00000428785.2:p.Ser471Arg
ENST00000521517.6:c.1413T>A	ENSP00000430740.2:p.Ser471Arg
ENST00000681998.1:c.1234T>A	ENSP00000506773.1:n.1234T>A
ENST00000682036.1:c.531T>A	ENSP00000508390.1:p.Ser177Arg
ENST00000682577.1:c.1186T>A	ENSP00000506963.1:n.1186T>A
ENST00000682624.1:c.*987T>A	ENSP00000508343.1:n.*987T>A
ENST00000682700.1:c.1413T>A	ENSP00000507627.1:p.Ser471Arg
ENST00000682744.1:n.951T>A
ENST00000682804.1:n.1236T>A
ENST00000682837.1:c.902T>A	ENSP00000507920.1:n.902T>A
ENST00000682935.1:n.3463T>A
ENST00000682984.1:c.1074T>A	ENSP00000507209.1:p.Ser358Arg
ENST00000683078.1:c.1168T>A	ENSP00000506796.1:n.1168T>A
ENST00000683223.1:c.1145T>A	ENSP00000507685.1:n.1145T>A
ENST00000683238.1:n.2637T>A
ENST00000683249.1:n.3010T>A
ENST00000683336.1:c.1234T>A	ENSP00000507695.1:n.1234T>A
ENST00000683362.1:c.1074T>A	ENSP00000506985.1:p.Ser358Arg
ENST00000683850.1:n.1336T>A
ENST00000683919.1:c.1343T>A	ENSP00000507617.1:n.1343T>A
ENST00000683953.1:c.1324T>A	ENSP00000508375.1:n.1324T>A
ENST00000684023.1:c.1390T>A	ENSP00000507461.1:n.1390T>A
ENST00000684064.1:c.1104T>A	ENSP00000508192.1:p.Ser368Arg
ENST00000684089.1:n.2963T>A
ENST00000684149.1:c.*592T>A	ENSP00000507943.1:n.*592T>A
ENST00000684416.1:n.1372T>A
ENST00000684540.1:c.1343T>A	ENSP00000507987.1:n.1343T>A
ENST00000453321.8:c.1413T>A MANE Select	ENSP00000389998.3:p.Ser471Arg
ENST00000323130.7:c.1383T>A	ENSP00000314488.3:p.Ser461Arg
ENST00000409623.7:c.1170T>A	ENSP00000386966.3:p.Ser390Arg
ENST00000452276.5:c.1104T>A	ENSP00000388671.1:p.Ser368Arg
ENST00000453321.7:c.1413T>A	ENSP00000389998.3:p.Ser471Arg
ENST00000453906.5:c.531T>A	ENSP00000403035.1:p.Ser177Arg
ENST00000474944.5:n.551T>A
ENST00000520680.1:c.235T>A
NM_001142301.1:c.1170T>A , LRG_688t2:c.1170T>A	NP_001135773.1:p.Ser390Arg
NM_153704.5:c.1413T>A , LRG_688t1:c.1413T>A	NP_714915.3:p.Ser471Arg
NR_024522.1:n.1484T>A
XM_006716686.2:c.1110T>A	XP_006716749.1:p.Ser370Arg
XM_006716687.2:c.813T>A	XP_006716750.1:p.Ser271Arg
XM_011517363.1:c.531T>A	XP_011515665.1:p.Ser177Arg
XR_428387.1:n.1471T>A
XR_928360.1:n.1471T>A
XR_928361.1:n.1471T>A
XR_928362.1:n.1471T>A
XM_006716686.4:c.1110T>A	XP_006716749.1:p.Ser370Arg
XM_011517363.3:c.531T>A	XP_011515665.1:p.Ser177Arg
XM_024447326.1:c.759T>A	XP_024303094.1:p.Ser253Arg
XR_001745619.2:n.1454T>A
XR_428387.2:n.1454T>A
XR_928360.3:n.1454T>A
XR_928362.3:n.1454T>A
NM_153704.6:c.1413T>A MANE Select	NP_714915.3:p.Ser471Arg
NR_024522.2:n.1434T>A