Canonical Allele Identifier: CA371689703

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93786260-T-G
• MyVariant Identifiers: chr8:g.94798488T>G (hg19) ; chr8:g.93786260T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786260T>G , CM000670.2:g.93786260T>G	GRCh38
NC_000008.10:g.94798488T>G , CM000670.1:g.94798488T>G	GRCh37
NC_000008.9:g.94867664T>G	NCBI36
NG_009190.1:g.36417T>G , LRG_688:g.36417T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1326T>G	ENSP00000314488.4:p.Ile442Met
ENST00000409623.8:c.1289-8T>G	ENSP00000386966.4:n.1289-8T>G
ENST00000452276.6:c.1326T>G	ENSP00000388671.2:p.Ile442Met
ENST00000453906.6:c.444T>G	ENSP00000403035.2:p.Ile148Met
ENST00000520680.2:c.1326T>G	ENSP00000428785.2:p.Ile442Met
ENST00000521517.6:c.1326T>G	ENSP00000430740.2:p.Ile442Met
ENST00000681998.1:c.1147T>G	ENSP00000506773.1:n.1147T>G
ENST00000682036.1:c.444T>G	ENSP00000508390.1:p.Ile148Met
ENST00000682577.1:c.1099T>G	ENSP00000506963.1:n.1099T>G
ENST00000682624.1:c.*900T>G	ENSP00000508343.1:n.*900T>G
ENST00000682700.1:c.1326T>G	ENSP00000507627.1:p.Ile442Met
ENST00000682744.1:n.864T>G
ENST00000682804.1:n.1149T>G
ENST00000682837.1:c.815T>G	ENSP00000507920.1:n.815T>G
ENST00000682935.1:n.3376T>G
ENST00000682984.1:c.987T>G	ENSP00000507209.1:p.Ile329Met
ENST00000683078.1:c.1081T>G	ENSP00000506796.1:n.1081T>G
ENST00000683223.1:c.1058T>G	ENSP00000507685.1:n.1058T>G
ENST00000683238.1:n.2550T>G
ENST00000683249.1:n.2923T>G
ENST00000683336.1:c.1147T>G	ENSP00000507695.1:n.1147T>G
ENST00000683362.1:c.987T>G	ENSP00000506985.1:p.Ile329Met
ENST00000683850.1:n.1249T>G
ENST00000683919.1:c.1256T>G	ENSP00000507617.1:n.1256T>G
ENST00000683953.1:c.1237T>G	ENSP00000508375.1:n.1237T>G
ENST00000684023.1:c.1303T>G	ENSP00000507461.1:n.1303T>G
ENST00000684064.1:c.1017T>G	ENSP00000508192.1:p.Ile339Met
ENST00000684089.1:n.2876T>G
ENST00000684149.1:c.*505T>G	ENSP00000507943.1:n.*505T>G
ENST00000684416.1:n.1285T>G
ENST00000684540.1:c.1256T>G	ENSP00000507987.1:n.1256T>G
ENST00000453321.8:c.1326T>G MANE Select	ENSP00000389998.3:p.Ile442Met
ENST00000323130.7:c.1296T>G	ENSP00000314488.3:p.Ile432Met
ENST00000409623.7:c.1083T>G	ENSP00000386966.3:p.Ile361Met
ENST00000452276.5:c.1017T>G	ENSP00000388671.1:p.Ile339Met
ENST00000453321.7:c.1326T>G	ENSP00000389998.3:p.Ile442Met
ENST00000453906.5:c.444T>G	ENSP00000403035.1:p.Ile148Met
ENST00000474944.5:n.464T>G
ENST00000520680.1:c.148T>G
NM_001142301.1:c.1083T>G , LRG_688t2:c.1083T>G	NP_001135773.1:p.Ile361Met
NM_153704.5:c.1326T>G , LRG_688t1:c.1326T>G	NP_714915.3:p.Ile442Met
NR_024522.1:n.1397T>G
XM_006716686.2:c.1023T>G	XP_006716749.1:p.Ile341Met
XM_006716687.2:c.726T>G	XP_006716750.1:p.Ile242Met
XM_011517363.1:c.444T>G	XP_011515665.1:p.Ile148Met
XR_428387.1:n.1384T>G
XR_928360.1:n.1384T>G
XR_928361.1:n.1384T>G
XR_928362.1:n.1384T>G
XM_006716686.4:c.1023T>G	XP_006716749.1:p.Ile341Met
XM_011517363.3:c.444T>G	XP_011515665.1:p.Ile148Met
XM_024447326.1:c.672T>G	XP_024303094.1:p.Ile224Met
XR_001745619.2:n.1367T>G
XR_428387.2:n.1367T>G
XR_928360.3:n.1367T>G
XR_928362.3:n.1367T>G
NM_153704.6:c.1326T>G MANE Select	NP_714915.3:p.Ile442Met
NR_024522.2:n.1347T>G