Canonical Allele Identifier: CA371689821

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798546A>G (hg19) ; chr8:g.93786318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786318A>G , CM000670.2:g.93786318A>G	GRCh38
NC_000008.10:g.94798546A>G , CM000670.1:g.94798546A>G	GRCh37
NC_000008.9:g.94867722A>G	NCBI36
NG_009190.1:g.36475A>G , LRG_688:g.36475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1384A>G	ENSP00000314488.4:p.Ile462Val
ENST00000409623.8:c.1339A>G	ENSP00000386966.4:p.Ile447Val
ENST00000452276.6:c.1384A>G	ENSP00000388671.2:p.Ile462Val
ENST00000453906.6:c.502A>G	ENSP00000403035.2:p.Ile168Val
ENST00000520680.2:c.1384A>G	ENSP00000428785.2:p.Ile462Val
ENST00000521517.6:c.1384A>G	ENSP00000430740.2:p.Ile462Val
ENST00000681998.1:c.1205A>G	ENSP00000506773.1:n.1205A>G
ENST00000682036.1:c.502A>G	ENSP00000508390.1:p.Ile168Val
ENST00000682577.1:c.1157A>G	ENSP00000506963.1:n.1157A>G
ENST00000682624.1:c.*958A>G	ENSP00000508343.1:n.*958A>G
ENST00000682700.1:c.1384A>G	ENSP00000507627.1:p.Ile462Val
ENST00000682744.1:n.922A>G
ENST00000682804.1:n.1207A>G
ENST00000682837.1:c.873A>G	ENSP00000507920.1:n.873A>G
ENST00000682935.1:n.3434A>G
ENST00000682984.1:c.1045A>G	ENSP00000507209.1:p.Ile349Val
ENST00000683078.1:c.1139A>G	ENSP00000506796.1:n.1139A>G
ENST00000683223.1:c.1116A>G	ENSP00000507685.1:n.1116A>G
ENST00000683238.1:n.2608A>G
ENST00000683249.1:n.2981A>G
ENST00000683336.1:c.1205A>G	ENSP00000507695.1:n.1205A>G
ENST00000683362.1:c.1045A>G	ENSP00000506985.1:p.Ile349Val
ENST00000683850.1:n.1307A>G
ENST00000683919.1:c.1314A>G	ENSP00000507617.1:n.1314A>G
ENST00000683953.1:c.1295A>G	ENSP00000508375.1:n.1295A>G
ENST00000684023.1:c.1361A>G	ENSP00000507461.1:n.1361A>G
ENST00000684064.1:c.1075A>G	ENSP00000508192.1:p.Ile359Val
ENST00000684089.1:n.2934A>G
ENST00000684149.1:c.*563A>G	ENSP00000507943.1:n.*563A>G
ENST00000684416.1:n.1343A>G
ENST00000684540.1:c.1314A>G	ENSP00000507987.1:n.1314A>G
ENST00000453321.8:c.1384A>G MANE Select	ENSP00000389998.3:p.Ile462Val
ENST00000323130.7:c.1354A>G	ENSP00000314488.3:p.Ile452Val
ENST00000409623.7:c.1141A>G	ENSP00000386966.3:p.Ile381Val
ENST00000452276.5:c.1075A>G	ENSP00000388671.1:p.Ile359Val
ENST00000453321.7:c.1384A>G	ENSP00000389998.3:p.Ile462Val
ENST00000453906.5:c.502A>G	ENSP00000403035.1:p.Ile168Val
ENST00000474944.5:n.522A>G
ENST00000520680.1:c.206A>G
NM_001142301.1:c.1141A>G , LRG_688t2:c.1141A>G	NP_001135773.1:p.Ile381Val
NM_153704.5:c.1384A>G , LRG_688t1:c.1384A>G	NP_714915.3:p.Ile462Val
NR_024522.1:n.1455A>G
XM_006716686.2:c.1081A>G	XP_006716749.1:p.Ile361Val
XM_006716687.2:c.784A>G	XP_006716750.1:p.Ile262Val
XM_011517363.1:c.502A>G	XP_011515665.1:p.Ile168Val
XR_428387.1:n.1442A>G
XR_928360.1:n.1442A>G
XR_928361.1:n.1442A>G
XR_928362.1:n.1442A>G
XM_006716686.4:c.1081A>G	XP_006716749.1:p.Ile361Val
XM_011517363.3:c.502A>G	XP_011515665.1:p.Ile168Val
XM_024447326.1:c.730A>G	XP_024303094.1:p.Ile244Val
XR_001745619.2:n.1425A>G
XR_428387.2:n.1425A>G
XR_928360.3:n.1425A>G
XR_928362.3:n.1425A>G
NM_153704.6:c.1384A>G MANE Select	NP_714915.3:p.Ile462Val
NR_024522.2:n.1405A>G