Canonical Allele Identifier: CA371689734

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798502C>G (hg19) ; chr8:g.93786274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786274C>G , CM000670.2:g.93786274C>G	GRCh38
NC_000008.10:g.94798502C>G , CM000670.1:g.94798502C>G	GRCh37
NC_000008.9:g.94867678C>G	NCBI36
NG_009190.1:g.36431C>G , LRG_688:g.36431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1340C>G	ENSP00000314488.4:p.Ala447Gly
ENST00000409623.8:c.1295C>G	ENSP00000386966.4:p.Ala432Gly
ENST00000452276.6:c.1340C>G	ENSP00000388671.2:p.Ala447Gly
ENST00000453906.6:c.458C>G	ENSP00000403035.2:p.Ala153Gly
ENST00000520680.2:c.1340C>G	ENSP00000428785.2:p.Ala447Gly
ENST00000521517.6:c.1340C>G	ENSP00000430740.2:p.Ala447Gly
ENST00000681998.1:c.1161C>G	ENSP00000506773.1:n.1161C>G
ENST00000682036.1:c.458C>G	ENSP00000508390.1:p.Ala153Gly
ENST00000682577.1:c.1113C>G	ENSP00000506963.1:n.1113C>G
ENST00000682624.1:c.*914C>G	ENSP00000508343.1:n.*914C>G
ENST00000682700.1:c.1340C>G	ENSP00000507627.1:p.Ala447Gly
ENST00000682744.1:n.878C>G
ENST00000682804.1:n.1163C>G
ENST00000682837.1:c.829C>G	ENSP00000507920.1:n.829C>G
ENST00000682935.1:n.3390C>G
ENST00000682984.1:c.1001C>G	ENSP00000507209.1:p.Ala334Gly
ENST00000683078.1:c.1095C>G	ENSP00000506796.1:n.1095C>G
ENST00000683223.1:c.1072C>G	ENSP00000507685.1:n.1072C>G
ENST00000683238.1:n.2564C>G
ENST00000683249.1:n.2937C>G
ENST00000683336.1:c.1161C>G	ENSP00000507695.1:n.1161C>G
ENST00000683362.1:c.1001C>G	ENSP00000506985.1:p.Ala334Gly
ENST00000683850.1:n.1263C>G
ENST00000683919.1:c.1270C>G	ENSP00000507617.1:n.1270C>G
ENST00000683953.1:c.1251C>G	ENSP00000508375.1:n.1251C>G
ENST00000684023.1:c.1317C>G	ENSP00000507461.1:n.1317C>G
ENST00000684064.1:c.1031C>G	ENSP00000508192.1:p.Ala344Gly
ENST00000684089.1:n.2890C>G
ENST00000684149.1:c.*519C>G	ENSP00000507943.1:n.*519C>G
ENST00000684416.1:n.1299C>G
ENST00000684540.1:c.1270C>G	ENSP00000507987.1:n.1270C>G
ENST00000453321.8:c.1340C>G MANE Select	ENSP00000389998.3:p.Ala447Gly
ENST00000323130.7:c.1310C>G	ENSP00000314488.3:p.Ala437Gly
ENST00000409623.7:c.1097C>G	ENSP00000386966.3:p.Ala366Gly
ENST00000452276.5:c.1031C>G	ENSP00000388671.1:p.Ala344Gly
ENST00000453321.7:c.1340C>G	ENSP00000389998.3:p.Ala447Gly
ENST00000453906.5:c.458C>G	ENSP00000403035.1:p.Ala153Gly
ENST00000474944.5:n.478C>G
ENST00000520680.1:c.162C>G
NM_001142301.1:c.1097C>G , LRG_688t2:c.1097C>G	NP_001135773.1:p.Ala366Gly
NM_153704.5:c.1340C>G , LRG_688t1:c.1340C>G	NP_714915.3:p.Ala447Gly
NR_024522.1:n.1411C>G
XM_006716686.2:c.1037C>G	XP_006716749.1:p.Ala346Gly
XM_006716687.2:c.740C>G	XP_006716750.1:p.Ala247Gly
XM_011517363.1:c.458C>G	XP_011515665.1:p.Ala153Gly
XR_428387.1:n.1398C>G
XR_928360.1:n.1398C>G
XR_928361.1:n.1398C>G
XR_928362.1:n.1398C>G
XM_006716686.4:c.1037C>G	XP_006716749.1:p.Ala346Gly
XM_011517363.3:c.458C>G	XP_011515665.1:p.Ala153Gly
XM_024447326.1:c.686C>G	XP_024303094.1:p.Ala229Gly
XR_001745619.2:n.1381C>G
XR_428387.2:n.1381C>G
XR_928360.3:n.1381C>G
XR_928362.3:n.1381C>G
NM_153704.6:c.1340C>G MANE Select	NP_714915.3:p.Ala447Gly
NR_024522.2:n.1361C>G