Canonical Allele Identifier: CA371689755

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798511G>C (hg19) ; chr8:g.93786283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786283G>C , CM000670.2:g.93786283G>C	GRCh38
NC_000008.10:g.94798511G>C , CM000670.1:g.94798511G>C	GRCh37
NC_000008.9:g.94867687G>C	NCBI36
NG_009190.1:g.36440G>C , LRG_688:g.36440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1349G>C	ENSP00000314488.4:p.Gly450Ala
ENST00000409623.8:c.1304G>C	ENSP00000386966.4:p.Gly435Ala
ENST00000452276.6:c.1349G>C	ENSP00000388671.2:p.Gly450Ala
ENST00000453906.6:c.467G>C	ENSP00000403035.2:p.Gly156Ala
ENST00000520680.2:c.1349G>C	ENSP00000428785.2:p.Gly450Ala
ENST00000521517.6:c.1349G>C	ENSP00000430740.2:p.Gly450Ala
ENST00000681998.1:c.1170G>C	ENSP00000506773.1:n.1170G>C
ENST00000682036.1:c.467G>C	ENSP00000508390.1:p.Gly156Ala
ENST00000682577.1:c.1122G>C	ENSP00000506963.1:n.1122G>C
ENST00000682624.1:c.*923G>C	ENSP00000508343.1:n.*923G>C
ENST00000682700.1:c.1349G>C	ENSP00000507627.1:p.Gly450Ala
ENST00000682744.1:n.887G>C
ENST00000682804.1:n.1172G>C
ENST00000682837.1:c.838G>C	ENSP00000507920.1:n.838G>C
ENST00000682935.1:n.3399G>C
ENST00000682984.1:c.1010G>C	ENSP00000507209.1:p.Gly337Ala
ENST00000683078.1:c.1104G>C	ENSP00000506796.1:n.1104G>C
ENST00000683223.1:c.1081G>C	ENSP00000507685.1:n.1081G>C
ENST00000683238.1:n.2573G>C
ENST00000683249.1:n.2946G>C
ENST00000683336.1:c.1170G>C	ENSP00000507695.1:n.1170G>C
ENST00000683362.1:c.1010G>C	ENSP00000506985.1:p.Gly337Ala
ENST00000683850.1:n.1272G>C
ENST00000683919.1:c.1279G>C	ENSP00000507617.1:n.1279G>C
ENST00000683953.1:c.1260G>C	ENSP00000508375.1:n.1260G>C
ENST00000684023.1:c.1326G>C	ENSP00000507461.1:n.1326G>C
ENST00000684064.1:c.1040G>C	ENSP00000508192.1:p.Gly347Ala
ENST00000684089.1:n.2899G>C
ENST00000684149.1:c.*528G>C	ENSP00000507943.1:n.*528G>C
ENST00000684416.1:n.1308G>C
ENST00000684540.1:c.1279G>C	ENSP00000507987.1:n.1279G>C
ENST00000453321.8:c.1349G>C MANE Select	ENSP00000389998.3:p.Gly450Ala
ENST00000323130.7:c.1319G>C	ENSP00000314488.3:p.Gly440Ala
ENST00000409623.7:c.1106G>C	ENSP00000386966.3:p.Gly369Ala
ENST00000452276.5:c.1040G>C	ENSP00000388671.1:p.Gly347Ala
ENST00000453321.7:c.1349G>C	ENSP00000389998.3:p.Gly450Ala
ENST00000453906.5:c.467G>C	ENSP00000403035.1:p.Gly156Ala
ENST00000474944.5:n.487G>C
ENST00000520680.1:c.171G>C
NM_001142301.1:c.1106G>C , LRG_688t2:c.1106G>C	NP_001135773.1:p.Gly369Ala
NM_153704.5:c.1349G>C , LRG_688t1:c.1349G>C	NP_714915.3:p.Gly450Ala
NR_024522.1:n.1420G>C
XM_006716686.2:c.1046G>C	XP_006716749.1:p.Gly349Ala
XM_006716687.2:c.749G>C	XP_006716750.1:p.Gly250Ala
XM_011517363.1:c.467G>C	XP_011515665.1:p.Gly156Ala
XR_428387.1:n.1407G>C
XR_928360.1:n.1407G>C
XR_928361.1:n.1407G>C
XR_928362.1:n.1407G>C
XM_006716686.4:c.1046G>C	XP_006716749.1:p.Gly349Ala
XM_011517363.3:c.467G>C	XP_011515665.1:p.Gly156Ala
XM_024447326.1:c.695G>C	XP_024303094.1:p.Gly232Ala
XR_001745619.2:n.1390G>C
XR_428387.2:n.1390G>C
XR_928360.3:n.1390G>C
XR_928362.3:n.1390G>C
NM_153704.6:c.1349G>C MANE Select	NP_714915.3:p.Gly450Ala
NR_024522.2:n.1370G>C