Canonical Allele Identifier: CA461858987

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798527A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786299A>G , CM000670.2:g.93786299A>G	GRCh38
NC_000008.10:g.94798527A>G , CM000670.1:g.94798527A>G	GRCh37
NC_000008.9:g.94867703A>G	NCBI36
NG_009190.1:g.36456A>G , LRG_688:g.36456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1365A>G	ENSP00000314488.4:p.Leu455=
ENST00000409623.8:c.1320A>G	ENSP00000386966.4:p.Leu440=
ENST00000452276.6:c.1365A>G	ENSP00000388671.2:p.Leu455=
ENST00000453906.6:c.483A>G	ENSP00000403035.2:p.Leu161=
ENST00000520680.2:c.1365A>G	ENSP00000428785.2:p.Leu455=
ENST00000521517.6:c.1365A>G	ENSP00000430740.2:p.Leu455=
ENST00000681998.1:c.1186A>G	ENSP00000506773.1:n.1186A>G
ENST00000682036.1:c.483A>G	ENSP00000508390.1:p.Leu161=
ENST00000682577.1:c.1138A>G	ENSP00000506963.1:n.1138A>G
ENST00000682624.1:c.*939A>G	ENSP00000508343.1:n.*939A>G
ENST00000682700.1:c.1365A>G	ENSP00000507627.1:p.Leu455=
ENST00000682744.1:n.903A>G
ENST00000682804.1:n.1188A>G
ENST00000682837.1:c.854A>G	ENSP00000507920.1:n.854A>G
ENST00000682935.1:n.3415A>G
ENST00000682984.1:c.1026A>G	ENSP00000507209.1:p.Leu342=
ENST00000683078.1:c.1120A>G	ENSP00000506796.1:n.1120A>G
ENST00000683223.1:c.1097A>G	ENSP00000507685.1:n.1097A>G
ENST00000683238.1:n.2589A>G
ENST00000683249.1:n.2962A>G
ENST00000683336.1:c.1186A>G	ENSP00000507695.1:n.1186A>G
ENST00000683362.1:c.1026A>G	ENSP00000506985.1:p.Leu342=
ENST00000683850.1:n.1288A>G
ENST00000683919.1:c.1295A>G	ENSP00000507617.1:n.1295A>G
ENST00000683953.1:c.1276A>G	ENSP00000508375.1:n.1276A>G
ENST00000684023.1:c.1342A>G	ENSP00000507461.1:n.1342A>G
ENST00000684064.1:c.1056A>G	ENSP00000508192.1:p.Leu352=
ENST00000684089.1:n.2915A>G
ENST00000684149.1:c.*544A>G	ENSP00000507943.1:n.*544A>G
ENST00000684416.1:n.1324A>G
ENST00000684540.1:c.1295A>G	ENSP00000507987.1:n.1295A>G
ENST00000453321.8:c.1365A>G MANE Select	ENSP00000389998.3:p.Leu455=
ENST00000323130.7:c.1335A>G	ENSP00000314488.3:p.Leu445=
ENST00000409623.7:c.1122A>G	ENSP00000386966.3:p.Leu374=
ENST00000452276.5:c.1056A>G	ENSP00000388671.1:p.Leu352=
ENST00000453321.7:c.1365A>G	ENSP00000389998.3:p.Leu455=
ENST00000453906.5:c.483A>G	ENSP00000403035.1:p.Leu161=
ENST00000474944.5:n.503A>G
ENST00000520680.1:c.187A>G
NM_001142301.1:c.1122A>G , LRG_688t2:c.1122A>G	NP_001135773.1:p.Leu374=
NM_153704.5:c.1365A>G , LRG_688t1:c.1365A>G	NP_714915.3:p.Leu455=
NR_024522.1:n.1436A>G
XM_006716686.2:c.1062A>G	XP_006716749.1:p.Leu354=
XM_006716687.2:c.765A>G	XP_006716750.1:p.Leu255=
XM_011517363.1:c.483A>G	XP_011515665.1:p.Leu161=
XR_428387.1:n.1423A>G
XR_928360.1:n.1423A>G
XR_928361.1:n.1423A>G
XR_928362.1:n.1423A>G
XM_006716686.4:c.1062A>G	XP_006716749.1:p.Leu354=
XM_011517363.3:c.483A>G	XP_011515665.1:p.Leu161=
XM_024447326.1:c.711A>G	XP_024303094.1:p.Leu237=
XR_001745619.2:n.1406A>G
XR_428387.2:n.1406A>G
XR_928360.3:n.1406A>G
XR_928362.3:n.1406A>G
NM_153704.6:c.1365A>G MANE Select	NP_714915.3:p.Leu455=
NR_024522.2:n.1386A>G