Canonical Allele Identifier: CA371689712

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798492T>A (hg19) ; chr8:g.93786264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786264T>A , CM000670.2:g.93786264T>A	GRCh38
NC_000008.10:g.94798492T>A , CM000670.1:g.94798492T>A	GRCh37
NC_000008.9:g.94867668T>A	NCBI36
NG_009190.1:g.36421T>A , LRG_688:g.36421T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1330T>A	ENSP00000314488.4:p.Leu444Ile
ENST00000409623.8:c.1289-4T>A	ENSP00000386966.4:n.1289-4T>A
ENST00000452276.6:c.1330T>A	ENSP00000388671.2:p.Leu444Ile
ENST00000453906.6:c.448T>A	ENSP00000403035.2:p.Leu150Ile
ENST00000520680.2:c.1330T>A	ENSP00000428785.2:p.Leu444Ile
ENST00000521517.6:c.1330T>A	ENSP00000430740.2:p.Leu444Ile
ENST00000681998.1:c.1151T>A	ENSP00000506773.1:n.1151T>A
ENST00000682036.1:c.448T>A	ENSP00000508390.1:p.Leu150Ile
ENST00000682577.1:c.1103T>A	ENSP00000506963.1:n.1103T>A
ENST00000682624.1:c.*904T>A	ENSP00000508343.1:n.*904T>A
ENST00000682700.1:c.1330T>A	ENSP00000507627.1:p.Leu444Ile
ENST00000682744.1:n.868T>A
ENST00000682804.1:n.1153T>A
ENST00000682837.1:c.819T>A	ENSP00000507920.1:n.819T>A
ENST00000682935.1:n.3380T>A
ENST00000682984.1:c.991T>A	ENSP00000507209.1:p.Leu331Ile
ENST00000683078.1:c.1085T>A	ENSP00000506796.1:n.1085T>A
ENST00000683223.1:c.1062T>A	ENSP00000507685.1:n.1062T>A
ENST00000683238.1:n.2554T>A
ENST00000683249.1:n.2927T>A
ENST00000683336.1:c.1151T>A	ENSP00000507695.1:n.1151T>A
ENST00000683362.1:c.991T>A	ENSP00000506985.1:p.Leu331Ile
ENST00000683850.1:n.1253T>A
ENST00000683919.1:c.1260T>A	ENSP00000507617.1:n.1260T>A
ENST00000683953.1:c.1241T>A	ENSP00000508375.1:n.1241T>A
ENST00000684023.1:c.1307T>A	ENSP00000507461.1:n.1307T>A
ENST00000684064.1:c.1021T>A	ENSP00000508192.1:p.Leu341Ile
ENST00000684089.1:n.2880T>A
ENST00000684149.1:c.*509T>A	ENSP00000507943.1:n.*509T>A
ENST00000684416.1:n.1289T>A
ENST00000684540.1:c.1260T>A	ENSP00000507987.1:n.1260T>A
ENST00000453321.8:c.1330T>A MANE Select	ENSP00000389998.3:p.Leu444Ile
ENST00000323130.7:c.1300T>A	ENSP00000314488.3:p.Leu434Ile
ENST00000409623.7:c.1087T>A	ENSP00000386966.3:p.Leu363Ile
ENST00000452276.5:c.1021T>A	ENSP00000388671.1:p.Leu341Ile
ENST00000453321.7:c.1330T>A	ENSP00000389998.3:p.Leu444Ile
ENST00000453906.5:c.448T>A	ENSP00000403035.1:p.Leu150Ile
ENST00000474944.5:n.468T>A
ENST00000520680.1:c.152T>A
NM_001142301.1:c.1087T>A , LRG_688t2:c.1087T>A	NP_001135773.1:p.Leu363Ile
NM_153704.5:c.1330T>A , LRG_688t1:c.1330T>A	NP_714915.3:p.Leu444Ile
NR_024522.1:n.1401T>A
XM_006716686.2:c.1027T>A	XP_006716749.1:p.Leu343Ile
XM_006716687.2:c.730T>A	XP_006716750.1:p.Leu244Ile
XM_011517363.1:c.448T>A	XP_011515665.1:p.Leu150Ile
XR_428387.1:n.1388T>A
XR_928360.1:n.1388T>A
XR_928361.1:n.1388T>A
XR_928362.1:n.1388T>A
XM_006716686.4:c.1027T>A	XP_006716749.1:p.Leu343Ile
XM_011517363.3:c.448T>A	XP_011515665.1:p.Leu150Ile
XM_024447326.1:c.676T>A	XP_024303094.1:p.Leu226Ile
XR_001745619.2:n.1371T>A
XR_428387.2:n.1371T>A
XR_928360.3:n.1371T>A
XR_928362.3:n.1371T>A
NM_153704.6:c.1330T>A MANE Select	NP_714915.3:p.Leu444Ile
NR_024522.2:n.1351T>A